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
ENST00000494143 [[71897736, 71899897], [71902423, 71902609], [71903597, 71904591]] None
ENST00000287078 [[71897736, 71899897], [71902423, 71902609], [71903597, 71903728], [71905176, 71906342]] [[71899679, 71899897], [71902423, 71902609], [71903597, 71903728], [71905176, 71906342]]
ENST00000335494 [[71897736, 71899897], [71905176, 71906412]] [[71899866, 71899897], [71905176, 71906342]]
ENST00000479086 [[71897738, 71899897], [71902423, 71902609], [71903597, 71903728], [71906288, 71906432]] None
NR_073595 [[71897736, 71899897], [71902423, 71902609], [71903597, 71903728], [71904240, 71904484]] None
NM_173555 [[71897736, 71899897], [71902423, 71902609], [71903597, 71903728], [71905176, 71906496]] [[71899679, 71899897], [71902423, 71902609], [71903597, 71903728], [71905176, 71906342]]
NM_001040273 [[71897736, 71899897], [71905176, 71906496]] [[71899866, 71899897], [71905176, 71906342]]
NR_073581 [[71897736, 71899897], [71902423, 71902609], [71903597, 71903728], [71906288, 71906496]] None
NR_073594 [[71897736, 71899897], [71902520, 71902609], [71903597, 71903728], [71906288, 71906496]] None
NR_073592 [[71897736, 71899897], [71906288, 71906496]] None
NR_073582 [[71897736, 71899897], [71902423, 71902609], [71903597, 71903728], [71906408, 71906496]] None
NR_073593 [[71897736, 71899897], [71902520, 71902609], [71903597, 71903728], [71906408, 71906496]] None
NR_073591 [[71897736, 71899897], [71902423, 71902520], [71903597, 71903728], [71906408, 71906496]] None
NR_073580 [[71897736, 71899897], [71906408, 71906496]] None
Promoter
Chrom Start End Description
chr10 71905940 71905995 CAGE_peak_2_at_TYSND1_5end
chr10 71906364 71906479 CAGE_peak_1_at_TYSND1_5end
chr10 71906491 71906500 CAGE_peak_3_at_TYSND1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I070843 70843469 70846414 0.67 [{'connected_gene': 'SGPL1', 'score': 39.54}, {'connected_gene': 'TYSND1', 'score': 9.71}, {'connected_gene': 'PCBD1', 'score': 5.8}, {'connected_gene': 'GC10P070863', 'score': 0.37}]
chr10 GH10I070173 70173673 70175045 1.06 [{'connected_gene': 'AIFM2', 'score': 29.06}, {'connected_gene': 'TYSND1', 'score': 12.42}, {'connected_gene': 'SAR1A', 'score': 0.77}, {'connected_gene': 'RPS25P9', 'score': 0.34}]
chr10 GH10I069213 69213435 69218702 1.69 [{'connected_gene': 'HKDC1', 'score': 14.1}, {'connected_gene': 'LOC102723350', 'score': 9.95}, {'connected_gene': 'ENSG00000231748', 'score': 9.85}, {'connected_gene': 'HK1', 'score': 9.85}, {'connected_gene': 'TYSND1', 'score': 9.73}, {'connected_gene': 'SUPV3L1', 'score': 8.3}, {'connected_gene': 'SRGN', 'score': 6.58}, {'connected_gene': 'VPS26A', 'score': 2.18}, {'connected_gene': 'DDX21', 'score': 1.45}, {'connected_gene': 'LOC101928994', 'score': 0.37}]
chr10 GH10I069179 69179012 69182306 2.11 [{'connected_gene': 'SUPV3L1', 'score': 558.01}, {'connected_gene': 'CCAR1', 'score': 92.78}, {'connected_gene': 'DDX50', 'score': 84.45}, {'connected_gene': 'HNRNPH3', 'score': 45.57}, {'connected_gene': 'TYSND1', 'score': 38.9}, {'connected_gene': 'SAR1A', 'score': 29.27}, {'connected_gene': 'DDX21', 'score': 23.57}, {'connected_gene': 'RPL26P27', 'score': 19.07}, {'connected_gene': 'VPS26A', 'score': 13.67}, {'connected_gene': 'HKDC1', 'score': 12.18}, {'connected_gene': 'LOC101928994', 'score': 5.97}]
chr10 GH10I070331 70331099 70332600 1.38 [{'connected_gene': 'NPFFR1', 'score': 12.27}, {'connected_gene': 'PPA1', 'score': 11.27}, {'connected_gene': 'CALM2P2', 'score': 10.22}, {'connected_gene': 'SAR1A', 'score': 10.22}, {'connected_gene': 'TYSND1', 'score': 10.21}, {'connected_gene': 'LRRC20', 'score': 0.23}]
chr10 GH10I070342 70342489 70344392 0.52 [{'connected_gene': 'NPFFR1', 'score': 11.49}, {'connected_gene': 'PPA1', 'score': 11.41}, {'connected_gene': 'CALM2P2', 'score': 10.32}, {'connected_gene': 'SAR1A', 'score': 10.32}, {'connected_gene': 'TYSND1', 'score': 10.11}, {'connected_gene': 'NODAL', 'score': 9.35}, {'connected_gene': 'LRRC20', 'score': 6.35}]
chr10 GH10I070337 70337245 70337394 0.2 [{'connected_gene': 'NPFFR1', 'score': 11.51}, {'connected_gene': 'PPA1', 'score': 11.04}, {'connected_gene': 'SAR1A', 'score': 9.77}, {'connected_gene': 'CALM2P2', 'score': 9.76}, {'connected_gene': 'TYSND1', 'score': 9.75}, {'connected_gene': 'LRRC20', 'score': 0.25}]
chr10 GH10I070338 70337485 70337634 0.2 [{'connected_gene': 'NPFFR1', 'score': 11.51}, {'connected_gene': 'PPA1', 'score': 11.04}, {'connected_gene': 'SAR1A', 'score': 9.77}, {'connected_gene': 'CALM2P2', 'score': 9.76}, {'connected_gene': 'TYSND1', 'score': 9.75}, {'connected_gene': 'LRRC20', 'score': 0.25}]
chr10 GH10I070089 70089949 70094003 1.06 [{'connected_gene': 'NPFFR1', 'score': 15.52}, {'connected_gene': 'TYSND1', 'score': 11.1}, {'connected_gene': 'CALM2P2', 'score': 11.06}, {'connected_gene': 'SAR1A', 'score': 11.05}, {'connected_gene': 'LRRC20', 'score': 4.93}, {'connected_gene': 'PIR45222', 'score': 0.44}, {'connected_gene': 'H2AFY2', 'score': 0.28}]
chr10 GH10I070168 70168788 70171535 2.04 [{'connected_gene': 'SAR1A', 'score': 563.02}, {'connected_gene': 'AIFM2', 'score': 27.56}, {'connected_gene': 'TYSND1', 'score': 12.44}, {'connected_gene': 'PPA1', 'score': 5.26}, {'connected_gene': 'CALM2P2', 'score': 0.44}]
chr10 GH10I070558 70558614 70563399 1.4 [{'connected_gene': 'SAR1A', 'score': 11.4}, {'connected_gene': 'TYSND1', 'score': 10.12}, {'connected_gene': 'ADAMTS14', 'score': 4.79}, {'connected_gene': 'PRF1', 'score': 0.26}, {'connected_gene': 'YY1P1', 'score': 0.19}, {'connected_gene': 'PALD1', 'score': 0.15}]
chr10 GH10I070601 70601090 70604504 1.75 [{'connected_gene': 'PRF1', 'score': 571.56}, {'connected_gene': 'ADAMTS14', 'score': 16.79}, {'connected_gene': 'TYSND1', 'score': 5.44}, {'connected_gene': 'GC10M070611', 'score': 0.39}]
chr10 GH10I069325 69325402 69341401 1.41 [{'connected_gene': 'CCAR1', 'score': 33.86}, {'connected_gene': 'DDX50', 'score': 23.51}, {'connected_gene': 'SAR1A', 'score': 19.56}, {'connected_gene': 'HK1', 'score': 18.73}, {'connected_gene': 'RPL26P27', 'score': 14.05}, {'connected_gene': 'MIR1254-1', 'score': 11.46}, {'connected_gene': 'ENSG00000231748', 'score': 11.05}, {'connected_gene': 'TYSND1', 'score': 10.13}, {'connected_gene': 'DDX21', 'score': 9.71}, {'connected_gene': 'STOX1', 'score': 5.39}, {'connected_gene': 'RPS15AP28', 'score': 0.29}, {'connected_gene': 'TACR2', 'score': 0.18}]
chr10 GH10I070081 70081066 70081466 0.55 [{'connected_gene': 'H2AFY2', 'score': 11.63}, {'connected_gene': 'TYSND1', 'score': 10.52}, {'connected_gene': 'CALM2P2', 'score': 10.49}, {'connected_gene': 'SAR1A', 'score': 10.48}, {'connected_gene': 'PIR45222', 'score': 0.37}]
chr10 GH10I070349 70349885 70351027 0.31 [{'connected_gene': 'LRRC20', 'score': 11.68}, {'connected_gene': 'CEP57L1P1', 'score': 11.66}, {'connected_gene': 'NPFFR1', 'score': 11.35}, {'connected_gene': 'SAR1A', 'score': 10.18}, {'connected_gene': 'CALM2P2', 'score': 10.17}, {'connected_gene': 'TYSND1', 'score': 10.16}, {'connected_gene': 'NODAL', 'score': 9.43}]
chr10 GH10I070380 70380709 70383556 2.18 [{'connected_gene': 'LRRC20', 'score': 566.35}, {'connected_gene': 'TYSND1', 'score': 9.95}, {'connected_gene': 'NPFFR1', 'score': 0.15}]
chr10 GH10I070190 70190137 70194529 0.96 [{'connected_gene': 'PPA1', 'score': 62.41}, {'connected_gene': 'AIFM2', 'score': 16.33}, {'connected_gene': 'SAR1A', 'score': 12.15}, {'connected_gene': 'CALM2P2', 'score': 12.12}, {'connected_gene': 'TYSND1', 'score': 12.06}, {'connected_gene': 'RPS25P9', 'score': 0.44}]
chr10 GH10I070138 70137805 70138944 0.63 [{'connected_gene': 'PPA1', 'score': 39.31}, {'connected_gene': 'AIFM2', 'score': 18.08}, {'connected_gene': 'PIR42845', 'score': 0.44}, {'connected_gene': 'TYSND1', 'score': 0.44}]
chr10 GH10I070258 70258088 70259514 0.65 [{'connected_gene': 'PPA1', 'score': 13.19}, {'connected_gene': 'NPFFR1', 'score': 12.04}, {'connected_gene': 'SAR1A', 'score': 10.27}, {'connected_gene': 'CALM2P2', 'score': 10.26}, {'connected_gene': 'TYSND1', 'score': 10.24}]
chr10 GH10I070221 70221228 70223422 1.02 [{'connected_gene': 'PPA1', 'score': 58.75}, {'connected_gene': 'SAR1A', 'score': 23.99}, {'connected_gene': 'CEP57L1P1', 'score': 11.86}, {'connected_gene': 'LRRC20', 'score': 11.86}, {'connected_gene': 'CALM2P2', 'score': 11.45}, {'connected_gene': 'NPFFR1', 'score': 11.18}, {'connected_gene': 'TYSND1', 'score': 11.13}, {'connected_gene': 'GC10M070217', 'score': 0.77}]
chr10 GH10I069315 69315097 69322298 2.53 [{'connected_gene': 'HK1', 'score': 578.84}, {'connected_gene': 'TYSND1', 'score': 24.86}, {'connected_gene': 'DDX50', 'score': 21.16}, {'connected_gene': 'DDX21', 'score': 13.78}, {'connected_gene': 'ENSG00000231748', 'score': 11.95}, {'connected_gene': 'CCAR1', 'score': 11.64}, {'connected_gene': 'HKDC1', 'score': 10.25}, {'connected_gene': 'SAR1A', 'score': 10.08}, {'connected_gene': 'FAM241B', 'score': 9.84}, {'connected_gene': 'RPS15AP28', 'score': 0.37}, {'connected_gene': 'TACR2', 'score': 0.15}]
chr10 GH10I069445 69445091 69454094 2.41 [{'connected_gene': 'TSPAN15', 'score': 593.72}, {'connected_gene': 'DDX50', 'score': 23.33}, {'connected_gene': 'CCAR1', 'score': 22.96}, {'connected_gene': 'DDX21', 'score': 11.13}, {'connected_gene': 'TYSND1', 'score': 10.92}, {'connected_gene': 'FAM241B', 'score': 10.56}, {'connected_gene': 'VPS26A', 'score': 9.9}, {'connected_gene': 'TACR2', 'score': 5.24}, {'connected_gene': 'AIFM2', 'score': 5.11}, {'connected_gene': 'ATP5MC1P7', 'score': 0.37}, {'connected_gene': 'GC10M069447', 'score': 0.37}]
chr10 GH10I070759 70759001 70759600 1.01 [{'connected_gene': 'TBATA', 'score': 12.01}, {'connected_gene': 'PCBD1', 'score': 10.86}, {'connected_gene': 'TYSND1', 'score': 10.58}, {'connected_gene': 'ADAMTS14', 'score': 0.17}]
chr10 GH10I070108 70108355 70108587 0.38 [{'connected_gene': 'TYSND1', 'score': 10.85}, {'connected_gene': 'CALM2P2', 'score': 10.8}, {'connected_gene': 'SAR1A', 'score': 10.78}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'PIR45222', 'score': 0.39}, {'connected_gene': 'AIFM2', 'score': 0.34}, {'connected_gene': 'H2AFY2', 'score': 0.22}]
chr10 GH10I070107 70107345 70107514 0.77 [{'connected_gene': 'TYSND1', 'score': 10.85}, {'connected_gene': 'CALM2P2', 'score': 10.8}, {'connected_gene': 'SAR1A', 'score': 10.78}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'PIR45222', 'score': 0.39}, {'connected_gene': 'AIFM2', 'score': 0.31}, {'connected_gene': 'H2AFY2', 'score': 0.23}]
chr10 GH10I070116 70116285 70116474 0.71 [{'connected_gene': 'TYSND1', 'score': 11.73}, {'connected_gene': 'CALM2P2', 'score': 11.68}, {'connected_gene': 'SAR1A', 'score': 11.67}, {'connected_gene': 'PIR50368', 'score': 0.77}, {'connected_gene': 'AIFM2', 'score': 0.37}]
chr10 GH10I070119 70119673 70121702 0.43 [{'connected_gene': 'TYSND1', 'score': 11.81}, {'connected_gene': 'CALM2P2', 'score': 11.76}, {'connected_gene': 'SAR1A', 'score': 11.75}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'AIFM2', 'score': 0.39}]
chr10 GH10I070117 70116485 70116674 0.7 [{'connected_gene': 'TYSND1', 'score': 11.73}, {'connected_gene': 'CALM2P2', 'score': 11.68}, {'connected_gene': 'SAR1A', 'score': 11.67}, {'connected_gene': 'PIR50368', 'score': 0.77}, {'connected_gene': 'AIFM2', 'score': 0.37}]
chr10 GH10I070122 70122143 70122885 0.6 [{'connected_gene': 'TYSND1', 'score': 11.84}, {'connected_gene': 'CALM2P2', 'score': 11.76}, {'connected_gene': 'SAR1A', 'score': 11.75}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'AIFM2', 'score': 0.39}]
chr10 GH10I070123 70123264 70124337 0.43 [{'connected_gene': 'TYSND1', 'score': 12.21}, {'connected_gene': 'CALM2P2', 'score': 12.15}, {'connected_gene': 'SAR1A', 'score': 12.12}, {'connected_gene': 'NPFFR1', 'score': 9.57}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'AIFM2', 'score': 0.44}]
chr10 GH10I070693 70693007 70696077 0.94 [{'connected_gene': 'ADAMTS14', 'score': 38.47}, {'connected_gene': 'PRF1', 'score': 11.98}, {'connected_gene': 'PCBD1', 'score': 10.2}, {'connected_gene': 'TYSND1', 'score': 4.66}, {'connected_gene': 'TBATA', 'score': 0.16}]
chr10 GH10I070615 70615741 70619554 0.82 [{'connected_gene': 'ADAMTS14', 'score': 30.91}, {'connected_gene': 'PCBD1', 'score': 10.14}, {'connected_gene': 'TYSND1', 'score': 4.99}, {'connected_gene': 'GC10M070611', 'score': 0.77}]
chr10 GH10I070684 70684987 70686344 1.14 [{'connected_gene': 'ADAMTS14', 'score': 29.05}, {'connected_gene': 'TYSND1', 'score': 5.63}, {'connected_gene': 'TBATA', 'score': 0.15}]
chr10 GH10I069800 69800685 69804343 1.91 [{'connected_gene': 'COL13A1', 'score': 550.77}, {'connected_gene': 'TYSND1', 'score': 18.75}, {'connected_gene': 'CEP57L1P1', 'score': 16.38}, {'connected_gene': 'DDX50', 'score': 15.6}, {'connected_gene': 'LOC105378347', 'score': 0.37}]
chr10 GH10I070144 70144884 70147981 2.26 [{'connected_gene': 'PIR42845', 'score': 550.77}, {'connected_gene': 'PIR38078', 'score': 550.77}, {'connected_gene': 'GC10M070148', 'score': 550.77}, {'connected_gene': 'TYSND1', 'score': 550.77}, {'connected_gene': 'PPA1', 'score': 23.73}, {'connected_gene': 'AIFM2', 'score': 18.04}, {'connected_gene': 'SAR1A', 'score': 13.0}]

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