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
ENST00000265044 [[156257928, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271570], [156272745, 156272973]] [[156260991, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271570], [156272745, 156272878]]
ENST00000467789 [[156260609, 156261058], [156262096, 156262228], [156266654, 156266792], [156271443, 156271570], [156272745, 156272938]] [[156260991, 156261058], [156262096, 156262228], [156266654, 156266792], [156271443, 156271570], [156272745, 156272878]]
ENST00000498205 [[156260792, 156261058], [156262096, 156262228], [156266693, 156266888]] None
ENST00000476217 [[156260792, 156261058], [156262082, 156262228], [156266693, 156266792], [156271443, 156271570], [156272745, 156272914]] [[156261038, 156261058], [156262082, 156262228], [156266693, 156266792], [156271443, 156271570], [156272745, 156272878]]
ENST00000478842 [[156260796, 156261058], [156262096, 156262228], [156266693, 156266792], [156269186, 156269305]] None
ENST00000464138 [[156260850, 156261058], [156262096, 156262228], [156266593, 156266786]] None
ENST00000463503 [[156260929, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271570], [156272525, 156272634]] [[156260991, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271547]]
ENST00000496050 [[156260970, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271570], [156271781, 156271914]] [[156260991, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271547]]
ENST00000467733 [[156261742, 156262228], [156266693, 156266792], [156271443, 156271570], [156272745, 156272906]] None
NM_001308205 [[156257341, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271570], [156271781, 156271914]] [[156260991, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271547]]
NM_001308204 [[156257341, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271570], [156272525, 156272634]] [[156260991, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271547]]
NM_001308197 [[156257341, 156261058], [156262096, 156262228], [156266654, 156266792], [156271443, 156271570], [156272745, 156272989]] [[156260991, 156261058], [156262096, 156262228], [156266654, 156266792], [156271443, 156271570], [156272745, 156272878]]
NM_007107 [[156257341, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271570], [156272745, 156272989]] [[156260991, 156261058], [156262096, 156262228], [156266693, 156266792], [156271443, 156271570], [156272745, 156272878]]
Promoter
Chrom Start End Description
chr3 156272872 156272923 CAGE_peak_1_at_SSR3_5end
chr3 156272924 156272951 CAGE_peak_2_at_SSR3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I156781 156781025 156785917 1.54 [{'connected_gene': 'LINC00886', 'score': 30.06}, {'connected_gene': 'LEKR1', 'score': 12.71}, {'connected_gene': 'SSR3', 'score': 1.44}, {'connected_gene': 'GC03P156804', 'score': 0.34}, {'connected_gene': 'METTL15P1', 'score': 0.2}]
chr3 GH03I156786 156786191 156790346 1.5 [{'connected_gene': 'LINC00886', 'score': 29.19}, {'connected_gene': 'LEKR1', 'score': 11.87}, {'connected_gene': 'TIPARP-AS1', 'score': 7.72}, {'connected_gene': 'SSR3', 'score': 3.61}, {'connected_gene': 'GC03P156804', 'score': 0.37}, {'connected_gene': 'METTL15P1', 'score': 0.19}]
chr3 GH03I156705 156705564 156706400 0.66 [{'connected_gene': 'LINC00886', 'score': 11.42}, {'connected_gene': 'LEKR1', 'score': 11.41}, {'connected_gene': 'TIPARP-AS1', 'score': 11.15}, {'connected_gene': 'TIPARP', 'score': 11.15}, {'connected_gene': 'SSR3', 'score': 9.72}, {'connected_gene': 'METTL15P1', 'score': 0.44}, {'connected_gene': 'PIR33904', 'score': 0.31}]
chr3 GH03I156549 156549765 156556118 2.28 [{'connected_gene': 'SSR3', 'score': 557.0}, {'connected_gene': 'GMPS', 'score': 15.99}, {'connected_gene': 'CCNL1', 'score': 15.76}, {'connected_gene': 'ENSG00000272990', 'score': 7.0}, {'connected_gene': 'KCNAB1', 'score': 5.84}, {'connected_gene': 'GC03P156555', 'score': 0.77}, {'connected_gene': 'GC03M156535', 'score': 0.37}]
chr3 GH03I156663 156663854 156665765 1.18 [{'connected_gene': 'SSR3', 'score': 11.25}, {'connected_gene': 'LINC00886', 'score': 6.09}, {'connected_gene': 'TIPARP', 'score': 0.44}, {'connected_gene': 'GC03P156555', 'score': 0.14}]
chr3 GH03I156579 156579442 156579681 0.87 [{'connected_gene': 'SSR3', 'score': 12.19}, {'connected_gene': 'LEKR1', 'score': 4.33}, {'connected_gene': 'TIPARP', 'score': 3.31}, {'connected_gene': 'GC03P156555', 'score': 0.34}]
chr3 GH03I156614 156614283 156616866 0.74 [{'connected_gene': 'SSR3', 'score': 4.62}, {'connected_gene': 'TIPARP', 'score': 0.22}, {'connected_gene': 'GC03P156555', 'score': 0.21}]
chr3 GH03I156661 156661001 156661800 0.56 [{'connected_gene': 'SSR3', 'score': 11.16}, {'connected_gene': 'TIPARP', 'score': 0.39}, {'connected_gene': 'GC03P156555', 'score': 0.14}]
chr3 GH03I156586 156586802 156588399 0.68 [{'connected_gene': 'SSR3', 'score': 16.04}, {'connected_gene': 'TIPARP-AS1', 'score': 9.58}, {'connected_gene': 'KCNAB1-AS1', 'score': 9.37}, {'connected_gene': 'LEKR1', 'score': 3.92}, {'connected_gene': 'TIPARP', 'score': 1.99}, {'connected_gene': 'GC03P156555', 'score': 0.29}]
chr3 GH03I156547 156547532 156547681 0.4 [{'connected_gene': 'SSR3', 'score': 0.44}, {'connected_gene': 'GC03M156535', 'score': 0.39}]
chr3 GH03I157110 157110456 157112089 0.8 [{'connected_gene': 'KRT18P34', 'score': 10.44}, {'connected_gene': 'SSR3', 'score': 6.0}, {'connected_gene': 'TIPARP-AS1', 'score': 4.55}, {'connected_gene': 'LINC00880', 'score': 0.39}, {'connected_gene': 'LINC00881', 'score': 0.34}]
chr3 GH03I157140 157140495 157145058 0.43 [{'connected_gene': 'KRT18P34', 'score': 37.63}, {'connected_gene': 'ENSG00000241770', 'score': 11.99}, {'connected_gene': 'TIPARP-AS1', 'score': 11.68}, {'connected_gene': 'TIPARP', 'score': 11.68}, {'connected_gene': 'SSR3', 'score': 10.3}, {'connected_gene': 'ENSG00000243176', 'score': 6.85}, {'connected_gene': 'ENSG00000201778', 'score': 0.39}, {'connected_gene': 'GC03M157131', 'score': 0.39}]
chr3 GH03I157119 157119274 157124144 1.67 [{'connected_gene': 'LINC00880', 'score': 562.73}, {'connected_gene': 'SSR3', 'score': 9.97}, {'connected_gene': 'LEKR1', 'score': 7.99}, {'connected_gene': 'CCNL1', 'score': 7.98}, {'connected_gene': 'TIPARP', 'score': 5.71}, {'connected_gene': 'TIPARP-AS1', 'score': 4.51}, {'connected_gene': 'LINC00881', 'score': 0.29}]
chr3 GH03I156673 156673334 156687687 2.77 [{'connected_gene': 'TIPARP', 'score': 558.24}, {'connected_gene': 'CCNL1', 'score': 32.22}, {'connected_gene': 'LINC00886', 'score': 27.39}, {'connected_gene': 'LEKR1', 'score': 19.6}, {'connected_gene': 'SSR3', 'score': 10.86}, {'connected_gene': 'TIPARP-AS1', 'score': 10.5}, {'connected_gene': 'PIR33904', 'score': 0.77}, {'connected_gene': 'METTL15P1', 'score': 0.29}]
chr3 GH03I156627 156627465 156629236 0.68 [{'connected_gene': 'TIPARP', 'score': 11.73}, {'connected_gene': 'TIPARP-AS1', 'score': 11.71}, {'connected_gene': 'SSR3', 'score': 11.02}, {'connected_gene': 'LINC00886', 'score': 6.55}, {'connected_gene': 'LEKR1', 'score': 4.03}, {'connected_gene': 'GC03P156555', 'score': 0.19}]
chr3 GH03I157095 157095075 157095834 0.69 [{'connected_gene': 'TIPARP', 'score': 11.49}, {'connected_gene': 'TIPARP-AS1', 'score': 11.49}, {'connected_gene': 'SSR3', 'score': 10.23}, {'connected_gene': 'LINC02029', 'score': 5.12}, {'connected_gene': 'LINC00881', 'score': 0.44}, {'connected_gene': 'LINC00880', 'score': 0.31}]
chr3 GH03I157094 157094832 157094981 0.97 [{'connected_gene': 'TIPARP', 'score': 11.49}, {'connected_gene': 'TIPARP-AS1', 'score': 11.49}, {'connected_gene': 'SSR3', 'score': 10.23}, {'connected_gene': 'LINC00881', 'score': 0.44}, {'connected_gene': 'LINC00880', 'score': 0.31}]
chr3 GH03I157092 157092151 157093839 0.62 [{'connected_gene': 'TIPARP', 'score': 11.49}, {'connected_gene': 'TIPARP-AS1', 'score': 11.49}, {'connected_gene': 'CCNL1', 'score': 10.74}, {'connected_gene': 'ENSG00000241770', 'score': 10.73}, {'connected_gene': 'KRT18P34', 'score': 10.73}, {'connected_gene': 'SSR3', 'score': 10.49}, {'connected_gene': 'KCNAB1-AS1', 'score': 9.56}, {'connected_gene': 'LINC00881', 'score': 0.77}, {'connected_gene': 'LINC00880', 'score': 0.29}]
chr3 GH03I157079 157079692 157080552 0.2 [{'connected_gene': 'LINC02029', 'score': 550.77}, {'connected_gene': 'TIPARP-AS1', 'score': 11.46}, {'connected_gene': 'TIPARP', 'score': 11.46}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.7}, {'connected_gene': 'SSR3', 'score': 10.51}, {'connected_gene': 'LINC00886', 'score': 9.5}, {'connected_gene': 'RN7SKP177', 'score': 0.21}]
chr3 GH03I157081 157081045 157083901 1.37 [{'connected_gene': 'LINC02029', 'score': 565.08}, {'connected_gene': 'TIPARP-AS1', 'score': 11.76}, {'connected_gene': 'TIPARP', 'score': 11.76}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.7}, {'connected_gene': 'SSR3', 'score': 10.51}, {'connected_gene': 'LINC00881', 'score': 0.44}, {'connected_gene': 'LINC00880', 'score': 0.26}]
chr3 GH03I156482 156482580 156485467 1.56 [{'connected_gene': 'KCNAB1-AS1', 'score': 11.69}, {'connected_gene': 'SSR3', 'score': 10.9}, {'connected_gene': 'KCNAB1', 'score': 4.89}, {'connected_gene': 'TIPARP', 'score': 1.74}, {'connected_gene': 'LEKR1', 'score': 1.27}, {'connected_gene': 'GC03P156486', 'score': 0.77}, {'connected_gene': 'GC03M156457', 'score': 0.37}]
chr3 GH03I157085 157085606 157091780 2.22 [{'connected_gene': 'LINC00881', 'score': 550.77}, {'connected_gene': 'CCNL1', 'score': 36.36}, {'connected_gene': 'TIPARP-AS1', 'score': 11.6}, {'connected_gene': 'TIPARP', 'score': 11.6}, {'connected_gene': 'ENSG00000241770', 'score': 10.73}, {'connected_gene': 'KRT18P34', 'score': 10.72}, {'connected_gene': 'SSR3', 'score': 10.49}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.17}, {'connected_gene': 'LINC02029', 'score': 0.44}, {'connected_gene': 'LINC00880', 'score': 0.29}]
chr3 GH03I156604 156604742 156607400 1.15 [{'connected_gene': 'TIPARP-AS1', 'score': 17.37}, {'connected_gene': 'SSR3', 'score': 12.02}, {'connected_gene': 'TIPARP', 'score': 11.32}, {'connected_gene': 'ENSG00000272990', 'score': 4.25}, {'connected_gene': 'GC03P156555', 'score': 0.23}]
chr3 GH03I156632 156632920 156634419 0.43 [{'connected_gene': 'TIPARP-AS1', 'score': 22.25}, {'connected_gene': 'SSR3', 'score': 11.58}, {'connected_gene': 'TIPARP', 'score': 11.16}, {'connected_gene': 'GC03P156555', 'score': 0.18}]
chr3 GH03I156607 156607887 156610431 0.49 [{'connected_gene': 'TIPARP-AS1', 'score': 10.22}, {'connected_gene': 'SSR3', 'score': 4.96}, {'connected_gene': 'ENSG00000272990', 'score': 4.42}, {'connected_gene': 'GC03P156555', 'score': 0.23}, {'connected_gene': 'TIPARP', 'score': 0.21}]
chr3 GH03I156593 156593179 156594848 0.79 [{'connected_gene': 'TIPARP-AS1', 'score': 9.33}, {'connected_gene': 'SSR3', 'score': 4.99}, {'connected_gene': 'GC03P156555', 'score': 0.28}, {'connected_gene': 'TIPARP', 'score': 0.18}]
chr3 GH03I157070 157070600 157071000 0.76 [{'connected_gene': 'TIPARP-AS1', 'score': 10.96}, {'connected_gene': 'TIPARP', 'score': 10.96}, {'connected_gene': 'SSR3', 'score': 10.13}, {'connected_gene': 'LINC00886', 'score': 5.05}, {'connected_gene': 'LINC02029', 'score': 0.39}, {'connected_gene': 'RN7SKP177', 'score': 0.23}]
chr3 GH03I156625 156625794 156626702 0.85 [{'connected_gene': 'TIPARP-AS1', 'score': 23.15}, {'connected_gene': 'TIPARP', 'score': 11.71}, {'connected_gene': 'SSR3', 'score': 11.25}, {'connected_gene': 'LINC00886', 'score': 5.02}, {'connected_gene': 'GC03P156555', 'score': 0.19}]
chr3 GH03I156629 156629807 156631604 0.93 [{'connected_gene': 'TIPARP-AS1', 'score': 21.52}, {'connected_gene': 'TIPARP', 'score': 11.73}, {'connected_gene': 'SSR3', 'score': 11.18}, {'connected_gene': 'LINC00886', 'score': 6.23}, {'connected_gene': 'GC03P156555', 'score': 0.18}]
chr3 GH03I157096 157096094 157098029 0.63 [{'connected_gene': 'TIPARP-AS1', 'score': 11.49}, {'connected_gene': 'TIPARP', 'score': 11.49}, {'connected_gene': 'SSR3', 'score': 10.23}, {'connected_gene': 'LINC00880', 'score': 7.92}, {'connected_gene': 'LINC00881', 'score': 4.94}]
chr3 GH03I157099 157099186 157099793 0.4 [{'connected_gene': 'TIPARP-AS1', 'score': 11.49}, {'connected_gene': 'TIPARP', 'score': 11.49}, {'connected_gene': 'SSR3', 'score': 10.23}, {'connected_gene': 'LINC00881', 'score': 5.56}, {'connected_gene': 'LINC00880', 'score': 0.34}]
chr3 GH03I157098 157098248 157098725 0.43 [{'connected_gene': 'TIPARP-AS1', 'score': 11.49}, {'connected_gene': 'TIPARP', 'score': 11.49}, {'connected_gene': 'SSR3', 'score': 10.23}, {'connected_gene': 'LINC00881', 'score': 0.44}, {'connected_gene': 'LINC00880', 'score': 0.34}]
chr3 GH03I157077 157077046 157078396 1.2 [{'connected_gene': 'TIPARP-AS1', 'score': 11.46}, {'connected_gene': 'TIPARP', 'score': 11.46}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.7}, {'connected_gene': 'SSR3', 'score': 10.51}, {'connected_gene': 'LINC00886', 'score': 8.95}, {'connected_gene': 'PQLC2L', 'score': 2.57}, {'connected_gene': 'LINC02029', 'score': 0.77}, {'connected_gene': 'RN7SKP177', 'score': 0.21}]
chr3 GH03I157075 157075661 157076544 0.66 [{'connected_gene': 'TIPARP-AS1', 'score': 11.46}, {'connected_gene': 'TIPARP', 'score': 11.46}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.7}, {'connected_gene': 'SSR3', 'score': 10.51}, {'connected_gene': 'LINC02029', 'score': 0.44}, {'connected_gene': 'RN7SKP177', 'score': 0.22}]
chr3 GH03I156541 156541132 156541281 0.77 [{'connected_gene': 'TIPARP-AS1', 'score': 11.01}, {'connected_gene': 'TIPARP', 'score': 11.01}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.25}, {'connected_gene': 'GC03M156535', 'score': 0.77}, {'connected_gene': 'SSR3', 'score': 0.39}]
chr3 GH03I156542 156542732 156542881 0.4 [{'connected_gene': 'TIPARP-AS1', 'score': 11.01}, {'connected_gene': 'TIPARP', 'score': 11.01}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.24}, {'connected_gene': 'GC03M156535', 'score': 0.44}, {'connected_gene': 'SSR3', 'score': 0.39}]
chr3 GH03I156524 156524672 156524821 0.69 [{'connected_gene': 'ENSG00000272990', 'score': 550.77}, {'connected_gene': 'SSR3', 'score': 11.48}, {'connected_gene': 'GC03M156535', 'score': 0.39}, {'connected_gene': 'KCNAB1', 'score': 0.04}]
chr3 GH03I156548 156547752 156548685 0.4 [{'connected_gene': 'ENSG00000272990', 'score': 6.73}, {'connected_gene': 'SSR3', 'score': 6.67}, {'connected_gene': 'GC03M156535', 'score': 0.39}]
chr3 GH03I157124 157124715 157138181 1.96 [{'connected_gene': 'GC03M157131', 'score': 550.77}, {'connected_gene': 'KRT18P34', 'score': 27.41}, {'connected_gene': 'CCNL1', 'score': 24.02}, {'connected_gene': 'LEKR1', 'score': 14.08}, {'connected_gene': 'LINC00880', 'score': 13.94}, {'connected_gene': 'ENSG00000241770', 'score': 11.94}, {'connected_gene': 'TIPARP', 'score': 11.1}, {'connected_gene': 'SSR3', 'score': 10.39}, {'connected_gene': 'TIPARP-AS1', 'score': 5.03}]
chr3 GH03I156485 156485775 156487359 0.2 [{'connected_gene': 'GC03P156486', 'score': 550.77}, {'connected_gene': 'KCNAB1-AS1', 'score': 11.69}, {'connected_gene': 'SSR3', 'score': 10.91}, {'connected_gene': 'KCNAB1', 'score': 8.96}, {'connected_gene': 'VN2R1P', 'score': 8.95}, {'connected_gene': 'LINC00886', 'score': 4.49}, {'connected_gene': 'ENSG00000272990', 'score': 0.28}]

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