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
ENST00000422447 [[18415934, 18416183], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429972]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18428828]]
ENST00000543445 [[18416106, 18416188], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424438]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424438]]
ENST00000469976 [[18416107, 18416183], [18418365, 18418945]] None
ENST00000545467 [[18416108, 18416183], [18418365, 18418515], [18420344, 18420535], [18420977, 18421095], [18422383, 18422419]] [[18418389, 18418515], [18420344, 18420347]]
ENST00000430553 [[18416108, 18416183], [18418365, 18418515], [18420977, 18421095], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429214]] [[18418389, 18418515], [18420977, 18421095], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18428828]]
ENST00000396222 [[18416108, 18416183], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425335], [18428785, 18429765]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425335], [18428785, 18428923]]
ENST00000535451 [[18416109, 18416183], [18416670, 18416820], [18418365, 18418515], [18420977, 18421068]] [[18418389, 18418515], [18420977, 18421068]]
ENST00000494573 [[18416109, 18416183], [18418365, 18418515], [18420977, 18421907]] None
ENST00000539814 [[18416109, 18416183], [18418365, 18418515], [18420977, 18421095], [18422176, 18422292], [18422383, 18422481]] [[18418389, 18418515], [18420977, 18421095], [18422176, 18422217]]
ENST00000543695 [[18416109, 18416183], [18418365, 18418501], [18422453, 18422557], [18424386, 18424560], [18425240, 18425306]] [[18418389, 18418501], [18422453, 18422482]]
ENST00000536528 [[18416109, 18416183], [18418365, 18418515], [18424386, 18424560], [18425240, 18425358]] [[18418389, 18418515], [18424386, 18424398]]
ENST00000541097 [[18416109, 18416183], [18418365, 18418515], [18420977, 18421095], [18425284, 18425358], [18426995, 18427119], [18428663, 18428705]] [[18418389, 18418515], [18420977, 18421095], [18425284, 18425310]]
ENST00000545215 [[18416109, 18416183], [18418365, 18418515], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429189]] [[18418389, 18418515], [18422383, 18422395]]
ENST00000227157 [[18416132, 18416183], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18428663, 18429765]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18428663, 18428679]]
ENST00000478970 [[18416158, 18416433], [18418365, 18418515], [18420977, 18421095], [18422383, 18422572]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422572]]
ENST00000495052 [[18416250, 18416433], [18418026, 18418157], [18418365, 18418515], [18420977, 18421095], [18422383, 18422483]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422483]]
ENST00000540430 [[18417812, 18418157], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429765]] [[18418094, 18418157], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18428828]]
ENST00000379412 [[18417824, 18418157], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429394]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18428828]]
ENST00000542179 [[18418100, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18428828]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18428828]]
ENST00000486690 [[18418364, 18418515], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427042]] [[18418389, 18418515], [18422383, 18422395]]
ENST00000537296 [[18420176, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427121]] None
ENST00000460405 [[18420412, 18420535], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425331]] None
ENST00000375710 [[18421272, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429131]] None
ENST00000538451 [[18424081, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429287]] None
NR_028500 [[18415935, 18416183], [18418365, 18418515], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429765]] None
NM_001135239 [[18415935, 18416183], [18418365, 18418515], [18420977, 18421095], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429765]] [[18418389, 18418515], [18420977, 18421095], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18428828]]
NM_001165415 [[18415935, 18416183], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425335], [18428785, 18429765]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425335], [18428785, 18428923]]
NM_001165416 [[18415935, 18416183], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18428663, 18429765]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18428663, 18428679]]
NM_005566 [[18415935, 18416183], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429765]] [[18418389, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18428828]]
NM_001165414 [[18417812, 18418157], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18429765]] [[18418094, 18418157], [18418365, 18418515], [18420977, 18421095], [18422383, 18422557], [18424386, 18424560], [18425240, 18425358], [18426995, 18427119], [18428663, 18428828]]
Promoter
Chrom Start End Description
chr11 18416103 18416118 CAGE_peak_1_at_LDHA_5end
chr11 18416135 18416147 CAGE_peak_2_at_LDHA_5end
chr11 18417848 18417887 CAGE_peak_5_at_LDHA_5end
chr11 18417890 18417941 CAGE_peak_3_at_LDHA_5end
chr11 18417948 18417964 CAGE_peak_6_at_LDHA_5end
chr11 18418371 18418411 CAGE_peak_4_at_LDHA_5end
chr11 18420176 18420179 CAGE_peak_7_at_LDHA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I018771 18771452 18773050 0.38 [{'connected_gene': 'PTPN5', 'score': 20.68}, {'connected_gene': 'LDHA', 'score': 9.59}, {'connected_gene': 'SERGEF', 'score': 9.58}, {'connected_gene': 'PIR60589', 'score': 0.28}]
chr11 GH11I018768 18768296 18769286 0.75 [{'connected_gene': 'PTPN5', 'score': 11.69}, {'connected_gene': 'IGSF22', 'score': 11.07}, {'connected_gene': 'LOC105376579', 'score': 9.83}, {'connected_gene': 'LDHA', 'score': 9.59}, {'connected_gene': 'SERGEF', 'score': 9.58}, {'connected_gene': 'PIR60589', 'score': 0.29}]
chr11 GH11I018525 18525600 18528282 2.08 [{'connected_gene': 'TSG101', 'score': 590.04}, {'connected_gene': 'GC11P018527', 'score': 550.77}, {'connected_gene': 'LDHC', 'score': 14.81}, {'connected_gene': 'LDHA', 'score': 10.72}, {'connected_gene': 'HPS5', 'score': 10.25}, {'connected_gene': 'GTF2H1', 'score': 10.25}, {'connected_gene': 'SPTY2D1OS', 'score': 10.18}, {'connected_gene': 'LOC100129966', 'score': 10.17}, {'connected_gene': 'ENSG00000256361', 'score': 0.37}]
chr11 GH11I018407 18407206 18408402 0.96 [{'connected_gene': 'LDHC', 'score': 11.69}, {'connected_gene': 'LDHA', 'score': 10.57}, {'connected_gene': 'ENSG00000256006', 'score': 0.77}]
chr11 GH11I018382 18382569 18385599 1.62 [{'connected_gene': 'LDHC', 'score': 46.03}, {'connected_gene': 'SPTY2D1', 'score': 17.65}, {'connected_gene': 'SAAL1', 'score': 12.86}, {'connected_gene': 'ENSG00000256361', 'score': 12.77}, {'connected_gene': 'ENSG00000256588', 'score': 12.77}, {'connected_gene': 'TSG101', 'score': 12.33}, {'connected_gene': 'LDHA', 'score': 10.44}, {'connected_gene': 'LDHAL6A', 'score': 5.76}, {'connected_gene': 'HPS5', 'score': 2.6}, {'connected_gene': 'MIR3159', 'score': 0.77}, {'connected_gene': 'GC11P018375', 'score': 0.44}]
chr11 GH11I018769 18769894 18770043 0.75 [{'connected_gene': 'LDHA', 'score': 9.59}, {'connected_gene': 'PTPN5', 'score': 0.34}, {'connected_gene': 'PIR60589', 'score': 0.28}]
chr11 GH11I018392 18392212 18397209 2.51 [{'connected_gene': 'LDHA', 'score': 560.94}, {'connected_gene': 'LDHC', 'score': 50.04}, {'connected_gene': 'SPTY2D1', 'score': 12.61}, {'connected_gene': 'SAAL1', 'score': 10.2}, {'connected_gene': 'GTF2H1', 'score': 7.03}, {'connected_gene': 'ENSG00000256006', 'score': 0.39}]
chr11 GH11I018423 18423038 18423189 0.22 [{'connected_gene': 'LDHA', 'score': 11.39}, {'connected_gene': 'HPS5', 'score': 10.57}, {'connected_gene': 'GTF2H1', 'score': 10.57}, {'connected_gene': 'SAA4', 'score': 10.46}, {'connected_gene': 'YWHABP2', 'score': 6.7}, {'connected_gene': 'SAAL1', 'score': 1.77}, {'connected_gene': 'LDHC', 'score': 0.39}, {'connected_gene': 'ENSG00000256734', 'score': 0.31}]
chr11 GH11I018328 18328702 18331351 1.3 [{'connected_gene': 'GTF2H1', 'score': 34.48}, {'connected_gene': 'LDHA', 'score': 17.69}, {'connected_gene': 'LDHC', 'score': 10.94}, {'connected_gene': 'HPS5', 'score': 0.44}, {'connected_gene': 'LOC105376577', 'score': 0.37}]
chr11 GH11I018331 18331999 18333745 0.63 [{'connected_gene': 'GTF2H1', 'score': 34.93}, {'connected_gene': 'LDHA', 'score': 15.81}, {'connected_gene': 'SPTY2D1', 'score': 4.21}, {'connected_gene': 'HPS5', 'score': 0.39}, {'connected_gene': 'LOC105376577', 'score': 0.37}]
chr11 GH11I018309 18309963 18315399 1.22 [{'connected_gene': 'GTF2H1', 'score': 42.59}, {'connected_gene': 'SPTY2D1', 'score': 14.14}, {'connected_gene': 'SAAL1', 'score': 14.01}, {'connected_gene': 'ENSG00000256361', 'score': 11.81}, {'connected_gene': 'LDHA', 'score': 10.76}, {'connected_gene': 'LDHC', 'score': 10.39}, {'connected_gene': 'HPS5', 'score': 10.27}, {'connected_gene': 'SERGEF', 'score': 9.36}, {'connected_gene': 'RNA5SP334', 'score': 0.25}]
chr11 GH11I018279 18279775 18282720 0.8 [{'connected_gene': 'GTF2H1', 'score': 25.98}, {'connected_gene': 'HPS5', 'score': 21.88}, {'connected_gene': 'LOC494141', 'score': 10.88}, {'connected_gene': 'LOC645319', 'score': 10.86}, {'connected_gene': 'LDHA', 'score': 10.18}, {'connected_gene': 'SPTY2D1OS', 'score': 9.24}, {'connected_gene': 'LOC100129966', 'score': 9.24}, {'connected_gene': 'RNA5SP334', 'score': 0.39}]
chr11 GH11I018617 18617346 18619048 0.72 [{'connected_gene': 'SPTY2D1', 'score': 33.02}, {'connected_gene': 'LOC105376579', 'score': 9.99}, {'connected_gene': 'IGSF22', 'score': 9.96}, {'connected_gene': 'LDHA', 'score': 9.62}, {'connected_gene': 'UEVLD', 'score': 5.5}, {'connected_gene': 'ENSG00000279837', 'score': 0.37}]
chr11 GH11I018368 18368400 18368601 0.4 [{'connected_gene': 'HPS5', 'score': 20.77}, {'connected_gene': 'LDHA', 'score': 13.04}, {'connected_gene': 'GTF2H1', 'score': 11.22}, {'connected_gene': 'LDHC', 'score': 10.94}, {'connected_gene': 'GC11P018373', 'score': 0.77}, {'connected_gene': 'LOC105376577', 'score': 0.37}]
chr11 GH11I018346 18346639 18348766 0.31 [{'connected_gene': 'LOC105376577', 'score': 550.77}, {'connected_gene': 'GTF2H1', 'score': 16.43}, {'connected_gene': 'HPS5', 'score': 12.19}, {'connected_gene': 'LDHA', 'score': 11.7}, {'connected_gene': 'LDHC', 'score': 10.89}, {'connected_gene': 'SPTY2D1', 'score': 4.21}]
chr11 GH11I018489 18489354 18493979 0.77 [{'connected_gene': 'YWHABP2', 'score': 559.49}, {'connected_gene': 'TSG101', 'score': 20.81}, {'connected_gene': 'LDHC', 'score': 19.28}, {'connected_gene': 'HPS5', 'score': 10.65}, {'connected_gene': 'GTF2H1', 'score': 10.65}, {'connected_gene': 'LDHA', 'score': 10.46}, {'connected_gene': 'SPTY2D1OS', 'score': 9.92}, {'connected_gene': 'LOC100129966', 'score': 9.91}, {'connected_gene': 'SPTY2D1', 'score': 5.15}, {'connected_gene': 'ENSG00000256588', 'score': 0.37}]
chr11 GH11I018524 18524525 18524851 0.76 [{'connected_gene': 'LOC100129966', 'score': 10.66}, {'connected_gene': 'LDHA', 'score': 10.54}, {'connected_gene': 'HPS5', 'score': 10.25}, {'connected_gene': 'GTF2H1', 'score': 10.25}, {'connected_gene': 'SPTY2D1OS', 'score': 9.87}, {'connected_gene': 'LOC105376579', 'score': 9.79}, {'connected_gene': 'IGSF22', 'score': 9.78}, {'connected_gene': 'SPTY2D1', 'score': 3.65}, {'connected_gene': 'TSG101', 'score': 3.38}, {'connected_gene': 'GC11P018527', 'score': 0.77}, {'connected_gene': 'ENSG00000256361', 'score': 0.39}]
chr11 GH11I018371 18371056 18372816 0.77 [{'connected_gene': 'GC11P018373', 'score': 550.77}, {'connected_gene': 'GTF2H1', 'score': 44.4}, {'connected_gene': 'HPS5', 'score': 20.17}, {'connected_gene': 'LDHA', 'score': 13.07}, {'connected_gene': 'LDHC', 'score': 10.94}, {'connected_gene': 'GC11M018372', 'score': 0.77}, {'connected_gene': 'LOC105376577', 'score': 0.34}]
chr11 GH11I018404 18404865 18405051 0.25 [{'connected_gene': 'ENSG00000256006', 'score': 550.77}, {'connected_gene': 'GTF2H1', 'score': 9.64}, {'connected_gene': 'HPS5', 'score': 9.64}, {'connected_gene': 'LDHA', 'score': 0.39}]

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