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
ENST00000258530 [[105567073, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105630016]] [[105568091, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105629790]]
ENST00000547439 [[105567074, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593302], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105629981]] [[105593298, 105593302], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105629790]]
ENST00000539978 [[105567712, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105626868, 105627228]] [[105568091, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105622926]]
ENST00000547790 [[105567794, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571233]] None
ENST00000546731 [[105567882, 105568226], [105569812, 105570152]] [[105568091, 105568226], [105569812, 105570001]]
ENST00000551662 [[105567985, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601825], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105629861]] [[105568091, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601825], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105629790]]
ENST00000553109 [[105568115, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582174], [105583549, 105583602], [105583768, 105583818]] [[105568115, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582174], [105583549, 105583602], [105583768, 105583818]]
ENST00000548425 [[105570580, 105570794], [105571003, 105571040], [105582050, 105582227]] None
ENST00000547809 [[105570887, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105626868, 105626932]] None
ENST00000552945 [[105582152, 105582225], [105583549, 105583667], [105583768, 105583933], [105589038, 105589054]] None
ENST00000549573 [[105591541, 105591658], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601797]] None
ENST00000549974 [[105593109, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601779], [105601935, 105601977], [105605007, 105605051]] [[105600981, 105600985], [105601748, 105601779], [105601935, 105601977]]
ENST00000550648 [[105597200, 105597563], [105600838, 105600985], [105601748, 105601767]] None
ENST00000546768 [[105600627, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611461]] None
ENST00000553097 [[105600927, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105629736, 105629871]] [[105600927, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105629736, 105629790]]
ENST00000549056 [[105605066, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105623405, 105623638]] [[105605066, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105622926]]
NM_001251905 [[105567074, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105626868, 105627183]] [[105568091, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105622926]]
NM_001251904 [[105567074, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601825], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105630008]] [[105568091, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601825], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105629790]]
NM_018171 [[105567074, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105630008]] [[105568091, 105568226], [105569812, 105569860], [105570653, 105570794], [105571003, 105571040], [105582050, 105582225], [105583549, 105583602], [105583768, 105583933], [105589038, 105589127], [105589222, 105589279], [105589362, 105589405], [105591542, 105591731], [105593150, 105593309], [105597480, 105597563], [105600838, 105600985], [105601748, 105601807], [105601935, 105601977], [105605007, 105605095], [105610846, 105610918], [105611443, 105611503], [105622902, 105623001], [105629736, 105629790]]
Promoter
Chrom Start End Description
chr12 105626985 105627000 CAGE_peak_6_at_APPL2_5end
chr12 105629810 105629835 CAGE_peak_3_at_APPL2_5end
chr12 105629852 105629969 CAGE_peak_1_at_APPL2_5end
chr12 105629982 105630010 CAGE_peak_2_at_APPL2_5end
chr12 105630020 105630031 CAGE_peak_4_at_APPL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I104283 104283995 104290677 2.32 [{'connected_gene': 'TXNRD1', 'score': 550.19}, {'connected_gene': 'EID3', 'score': 43.72}, {'connected_gene': 'WASHC4', 'score': 12.48}, {'connected_gene': 'TDG', 'score': 12.27}, {'connected_gene': 'APPL2', 'score': 9.77}, {'connected_gene': 'ENSG00000257732', 'score': 0.44}]
chr12 GH12I105277 105277698 105279182 0.43 [{'connected_gene': 'APPL2', 'score': 12.78}, {'connected_gene': 'C12orf75', 'score': 0.26}, {'connected_gene': 'KCCAT198', 'score': 0.25}]
chr12 GH12I105293 105293073 105295322 0.62 [{'connected_gene': 'APPL2', 'score': 11.97}, {'connected_gene': 'WASHC4', 'score': 6.26}, {'connected_gene': 'C12orf75', 'score': 4.49}, {'connected_gene': 'KCCAT198', 'score': 0.29}]
chr12 GH12I105203 105203953 105207022 0.51 [{'connected_gene': 'APPL2', 'score': 28.28}, {'connected_gene': 'WASHC4', 'score': 21.42}, {'connected_gene': 'C12orf75', 'score': 11.22}, {'connected_gene': 'GC12P105208', 'score': 0.77}, {'connected_gene': 'LOC105369953', 'score': 0.44}]
chr12 GH12I105225 105225577 105237077 2.68 [{'connected_gene': 'APPL2', 'score': 571.35}, {'connected_gene': 'WASHC4', 'score': 32.78}, {'connected_gene': 'C12orf75', 'score': 13.14}, {'connected_gene': 'PIR46520', 'score': 0.37}, {'connected_gene': 'GC12P105208', 'score': 0.34}]
chr12 GH12I105090 105090443 105090732 0.43 [{'connected_gene': 'APPL2', 'score': 7.14}, {'connected_gene': 'ALDH1L2', 'score': 0.44}, {'connected_gene': 'WASHC4', 'score': 0.37}]
chr12 GH12I105409 105409011 105411046 1.24 [{'connected_gene': 'APPL2', 'score': 9.84}, {'connected_gene': 'CASC18', 'score': 6.85}, {'connected_gene': 'LOC105369955', 'score': 0.39}, {'connected_gene': 'LOC105369957', 'score': 0.28}, {'connected_gene': 'GC12M105372', 'score': 0.28}]
chr12 GH12I104710 104710771 104711732 0.66 [{'connected_gene': 'CHST11', 'score': 10.62}, {'connected_gene': 'APPL2', 'score': 5.14}, {'connected_gene': 'PIR42556', 'score': 0.77}, {'connected_gene': 'GC12P104758', 'score': 0.25}]
chr12 GH12I105326 105326101 105337946 2.15 [{'connected_gene': 'C12orf75', 'score': 596.0}, {'connected_gene': 'APPL2', 'score': 16.31}, {'connected_gene': 'WASHC4', 'score': 10.35}, {'connected_gene': 'KCCAT198', 'score': 8.14}, {'connected_gene': 'LOC105369957', 'score': 0.26}]
chr12 GH12I105253 105253266 105258386 0.92 [{'connected_gene': 'C12orf75', 'score': 27.21}, {'connected_gene': 'APPL2', 'score': 22.84}, {'connected_gene': 'WASHC4', 'score': 20.35}, {'connected_gene': 'KCCAT198', 'score': 0.19}]
chr12 GH12I105358 105358801 105359200 0.72 [{'connected_gene': 'C12orf75', 'score': 10.4}, {'connected_gene': 'APPL2', 'score': 10.4}, {'connected_gene': 'LOC105369957', 'score': 0.39}, {'connected_gene': 'KCCAT198', 'score': 0.29}]
chr12 GH12I105279 105279583 105279635 0.52 [{'connected_gene': 'C12orf75', 'score': 0.26}, {'connected_gene': 'APPL2', 'score': 0.26}, {'connected_gene': 'KCCAT198', 'score': 0.25}]
chr12 GH12I105382 105382518 105383802 0.86 [{'connected_gene': 'C12orf75', 'score': 25.16}, {'connected_gene': 'APPL2', 'score': 11.25}, {'connected_gene': 'CASC18', 'score': 4.28}, {'connected_gene': 'LOC105369957', 'score': 0.39}, {'connected_gene': 'GC12M105372', 'score': 0.39}, {'connected_gene': 'LOC105369955', 'score': 0.26}]
chr12 GH12I105384 105384739 105385727 0.2 [{'connected_gene': 'C12orf75', 'score': 25.12}, {'connected_gene': 'APPL2', 'score': 11.25}, {'connected_gene': 'CASC18', 'score': 4.6}, {'connected_gene': 'LOC105369957', 'score': 0.39}, {'connected_gene': 'GC12M105372', 'score': 0.39}, {'connected_gene': 'LOC105369955', 'score': 0.28}]
chr12 GH12I105322 105321552 105323042 0.86 [{'connected_gene': 'C12orf75', 'score': 17.87}, {'connected_gene': 'KCCAT198', 'score': 10.13}, {'connected_gene': 'APPL2', 'score': 1.47}]
chr12 GH12I105315 105315210 105319975 1.21 [{'connected_gene': 'C12orf75', 'score': 18.2}, {'connected_gene': 'KCCAT198', 'score': 9.4}, {'connected_gene': 'APPL2', 'score': 8.06}]
chr12 GH12I105091 105091407 105093186 1.02 [{'connected_gene': 'WASHC4', 'score': 32.36}, {'connected_gene': 'APPL2', 'score': 24.09}, {'connected_gene': 'C12orf75', 'score': 22.9}, {'connected_gene': 'ALDH1L2', 'score': 0.44}]
chr12 GH12I105218 105218292 105224820 0.99 [{'connected_gene': 'WASHC4', 'score': 34.44}, {'connected_gene': 'APPL2', 'score': 19.38}, {'connected_gene': 'C12orf75', 'score': 12.66}, {'connected_gene': 'PIR46520', 'score': 0.44}, {'connected_gene': 'GC12P105208', 'score': 0.39}]
chr12 GH12I105106 105106532 105111681 2.1 [{'connected_gene': 'WASHC4', 'score': 583.11}, {'connected_gene': 'LOC414300', 'score': 550.77}, {'connected_gene': 'APPL2', 'score': 15.31}, {'connected_gene': 'KCCAT198', 'score': 8.24}, {'connected_gene': 'GC12P105154', 'score': 0.25}]
chr12 GH12I105281 105281083 105281795 0.62 [{'connected_gene': 'WASHC4', 'score': 5.59}, {'connected_gene': 'C12orf75', 'score': 0.25}, {'connected_gene': 'APPL2', 'score': 0.25}, {'connected_gene': 'KCCAT198', 'score': 0.25}]
chr12 GH12I105292 105292823 105292972 0.49 [{'connected_gene': 'KCCAT198', 'score': 0.29}, {'connected_gene': 'C12orf75', 'score': 0.22}, {'connected_gene': 'APPL2', 'score': 0.22}]
chr12 GH12I105321 105321243 105321392 0.63 [{'connected_gene': 'KCCAT198', 'score': 0.44}, {'connected_gene': 'C12orf75', 'score': 0.17}, {'connected_gene': 'APPL2', 'score': 0.17}]
chr12 GH12I105198 105198114 105200691 0.69 [{'connected_gene': 'LOC105369953', 'score': 550.77}, {'connected_gene': 'WASHC4', 'score': 31.64}, {'connected_gene': 'C12orf75', 'score': 11.18}, {'connected_gene': 'APPL2', 'score': 11.18}, {'connected_gene': 'GC12P105154', 'score': 0.26}]
chr12 GH12I104560 104560845 104562720 0.43 [{'connected_gene': 'GC12P104563', 'score': 550.77}, {'connected_gene': 'CHST11', 'score': 10.34}, {'connected_gene': 'APPL2', 'score': 5.79}, {'connected_gene': 'GC12P104553', 'score': 0.44}]
chr12 GH12I105210 105210681 105217597 1.15 [{'connected_gene': 'PIR46520', 'score': 550.77}, {'connected_gene': 'WASHC4', 'score': 28.2}, {'connected_gene': 'APPL2', 'score': 25.62}, {'connected_gene': 'C12orf75', 'score': 12.01}, {'connected_gene': 'GC12P105208', 'score': 0.44}, {'connected_gene': 'LOC105369953', 'score': 0.39}]
chr12 GH12I105208 105208567 105210015 0.43 [{'connected_gene': 'GC12P105208', 'score': 550.77}, {'connected_gene': 'WASHC4', 'score': 40.35}, {'connected_gene': 'PIR46520', 'score': 0.77}, {'connected_gene': 'LOC105369953', 'score': 0.44}, {'connected_gene': 'APPL2', 'score': 0.31}]

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