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
ENST00000373290 [[71211228, 71211446], [71243446, 71243632], [71244896, 71244971], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71265996], [71266584, 71267425]] [[71211350, 71211446], [71243446, 71243632], [71244896, 71244971], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71265996], [71266584, 71266734]]
ENST00000478112 [[71211232, 71211446], [71243446, 71243848]] None
ENST00000475069 [[71243580, 71243632], [71244896, 71244971], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71266096]] None
ENST00000452130 [[71243623, 71243632], [71244896, 71244971], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71265996], [71267309, 71267422]] [[71243623, 71243632], [71244896, 71244971], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71265996], [71267309, 71267330]]
ENST00000490083 [[71254703, 71255006], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71265996], [71266584, 71266612]] None
ENST00000486093 [[71254726, 71254792], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71265996], [71266584, 71266833]] None
ENST00000459981 [[71254890, 71255179], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71265996], [71266584, 71266751]] None
ENST00000470508 [[71265723, 71265996], [71266584, 71266985]] None
NM_012339 [[71211225, 71211446], [71243446, 71243632], [71244896, 71244971], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71265996], [71266584, 71267423]] [[71211350, 71211446], [71243446, 71243632], [71244896, 71244971], [71255349, 71255445], [71258035, 71258152], [71264193, 71264241], [71265879, 71265996], [71266584, 71266734]]
Promoter
Chrom Start End Description
chr10 71211212 71211288 CAGE_peak_1_at_TSPAN15_5end
chr10 71254729 71254767 CAGE_peak_2_at_TSPAN15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I069757 69757351 69758659 1 [{'connected_gene': 'DDX50', 'score': 49.52}, {'connected_gene': 'CEP57L1P1', 'score': 27.96}, {'connected_gene': 'PALD1', 'score': 18.73}, {'connected_gene': 'COL13A1', 'score': 11.17}, {'connected_gene': 'FAM241B', 'score': 10.3}, {'connected_gene': 'KIF1BP', 'score': 9.89}, {'connected_gene': 'TSPAN15', 'score': 4.72}, {'connected_gene': 'RPL5P26', 'score': 0.34}, {'connected_gene': 'GC10P069687', 'score': 0.19}]
chr10 GH10I069416 69416908 69416967 0.81 [{'connected_gene': 'TACR2', 'score': 550.77}, {'connected_gene': 'TSPAN15', 'score': 4.94}]
chr10 GH10I069417 69417346 69418858 0.97 [{'connected_gene': 'TACR2', 'score': 550.77}, {'connected_gene': 'TSPAN15', 'score': 24.06}]
chr10 GH10I069523 69523556 69523934 0.22 [{'connected_gene': 'TMEM256P1', 'score': 550.77}, {'connected_gene': 'TSPAN15', 'score': 11.03}, {'connected_gene': 'LOC105378345', 'score': 0.37}]
chr10 GH10I069407 69407665 69411425 1.96 [{'connected_gene': 'CCAR1', 'score': 23.43}, {'connected_gene': 'DDX50', 'score': 17.46}, {'connected_gene': 'TACR2', 'score': 12.12}, {'connected_gene': 'HK1', 'score': 11.82}, {'connected_gene': 'SAR1A', 'score': 11.33}, {'connected_gene': 'HKDC1', 'score': 10.95}, {'connected_gene': 'ENSG00000231748', 'score': 10.51}, {'connected_gene': 'RPL26P27', 'score': 9.79}, {'connected_gene': 'TSPAN15', 'score': 7.52}, {'connected_gene': 'SRGN', 'score': 3.17}, {'connected_gene': 'VPS26A', 'score': 1.62}, {'connected_gene': 'RPS15AP28', 'score': 0.14}]
chr10 GH10I069507 69506227 69506757 0.2 [{'connected_gene': 'NEUROG3', 'score': 11.24}, {'connected_gene': 'LOC101929021', 'score': 11.24}, {'connected_gene': 'FAM241B', 'score': 10.88}, {'connected_gene': 'TMEM256P1', 'score': 0.37}, {'connected_gene': 'GC10M069447', 'score': 0.28}, {'connected_gene': 'TSPAN15', 'score': 0.18}]
chr10 GH10I069398 69398398 69399423 0.43 [{'connected_gene': 'HK1', 'score': 11.3}, {'connected_gene': 'ENSG00000231748', 'score': 11.1}, {'connected_gene': 'HKDC1', 'score': 10.53}, {'connected_gene': 'TACR2', 'score': 6.19}, {'connected_gene': 'TSPAN15', 'score': 5.04}, {'connected_gene': 'RPS15AP28', 'score': 0.15}]
chr10 GH10I069405 69405743 69407606 0.69 [{'connected_gene': 'HK1', 'score': 11.3}, {'connected_gene': 'ENSG00000231748', 'score': 11.1}, {'connected_gene': 'HKDC1', 'score': 10.95}, {'connected_gene': 'TACR2', 'score': 10.3}, {'connected_gene': 'TSPAN15', 'score': 6.08}, {'connected_gene': 'RPS15AP28', 'score': 0.14}]
chr10 GH10I069403 69403186 69404477 0.66 [{'connected_gene': 'HK1', 'score': 11.29}, {'connected_gene': 'ENSG00000231748', 'score': 11.1}, {'connected_gene': 'HKDC1', 'score': 10.52}, {'connected_gene': 'TSPAN15', 'score': 6.09}, {'connected_gene': 'TACR2', 'score': 0.39}, {'connected_gene': 'RPS15AP28', 'score': 0.15}]
chr10 GH10I069388 69388979 69391103 0.82 [{'connected_gene': 'HK1', 'score': 11.27}, {'connected_gene': 'ENSG00000231748', 'score': 11.08}, {'connected_gene': 'TACR2', 'score': 6.58}, {'connected_gene': 'TSPAN15', 'score': 6.43}, {'connected_gene': 'RPS15AP28', 'score': 0.17}]
chr10 GH10I069392 69392036 69393086 1.1 [{'connected_gene': 'HK1', 'score': 11.21}, {'connected_gene': 'ENSG00000231748', 'score': 10.96}, {'connected_gene': 'TSPAN15', 'score': 5.38}, {'connected_gene': 'TACR2', 'score': 0.34}, {'connected_gene': 'RPS15AP28', 'score': 0.16}]
chr10 GH10I069393 69393890 69394904 0.38 [{'connected_gene': 'HK1', 'score': 11.21}, {'connected_gene': 'ENSG00000231748', 'score': 10.96}, {'connected_gene': 'TSPAN15', 'score': 5.07}, {'connected_gene': 'TACR2', 'score': 0.34}, {'connected_gene': 'RPS15AP28', 'score': 0.16}]
chr10 GH10I069421 69421985 69422214 1.07 [{'connected_gene': 'HK1', 'score': 10.22}, {'connected_gene': 'ENSG00000231748', 'score': 10.22}, {'connected_gene': 'TSPAN15', 'score': 0.77}, {'connected_gene': 'TACR2', 'score': 0.44}]
chr10 GH10I069462 69462851 69463138 0.63 [{'connected_gene': 'HK1', 'score': 1.3}, {'connected_gene': 'GC10M069447', 'score': 0.44}, {'connected_gene': 'ATP5MC1P7', 'score': 0.31}, {'connected_gene': 'TSPAN15', 'score': 0.28}]
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 GH10I069384 69384515 69386640 1.13 [{'connected_gene': 'TSPAN15', 'score': 5.31}, {'connected_gene': 'TACR2', 'score': 0.29}, {'connected_gene': 'RPS15AP28', 'score': 0.18}, {'connected_gene': 'HK1', 'score': 0.13}]
chr10 GH10I069419 69419170 69419892 0.4 [{'connected_gene': 'TSPAN15', 'score': 23.36}, {'connected_gene': 'TACR2', 'score': 0.77}]
chr10 GH10I069506 69506891 69508594 1.33 [{'connected_gene': 'TSPAN15', 'score': 13.27}, {'connected_gene': 'TMEM256P1', 'score': 0.37}, {'connected_gene': 'GC10M069447', 'score': 0.28}]
chr10 GH10I069470 69470607 69471545 0.38 [{'connected_gene': 'TSPAN15', 'score': 23.07}, {'connected_gene': 'GC10M069447', 'score': 0.77}, {'connected_gene': 'TMEM256P1', 'score': 0.23}]
chr10 GH10I069471 69471757 69473988 0.49 [{'connected_gene': 'TSPAN15', 'score': 21.46}, {'connected_gene': 'GC10M069447', 'score': 0.77}, {'connected_gene': 'TMEM256P1', 'score': 0.23}]
chr10 GH10I069501 69501900 69503649 0.43 [{'connected_gene': 'TSPAN15', 'score': 13.24}, {'connected_gene': 'NEUROG3', 'score': 11.23}, {'connected_gene': 'LOC101929021', 'score': 11.23}, {'connected_gene': 'FAM241B', 'score': 10.88}, {'connected_gene': 'TMEM256P1', 'score': 0.34}, {'connected_gene': 'GC10M069447', 'score': 0.29}]
chr10 GH10I069490 69490959 69500035 0.8 [{'connected_gene': 'TSPAN15', 'score': 40.19}, {'connected_gene': 'NEUROG3', 'score': 11.22}, {'connected_gene': 'LOC101929021', 'score': 11.22}, {'connected_gene': 'FAM241B', 'score': 10.92}, {'connected_gene': 'GC10M069447', 'score': 0.31}, {'connected_gene': 'TMEM256P1', 'score': 0.31}]
chr10 GH10I069489 69489372 69490452 0.31 [{'connected_gene': 'TSPAN15', 'score': 22.61}, {'connected_gene': 'FAM241B', 'score': 10.91}, {'connected_gene': 'GC10M069447', 'score': 0.34}, {'connected_gene': 'TMEM256P1', 'score': 0.29}]
chr10 GH10I069425 69425125 69427095 1.35 [{'connected_gene': 'TSPAN15', 'score': 572.32}, {'connected_gene': 'FAM241B', 'score': 10.67}, {'connected_gene': 'HK1', 'score': 10.12}, {'connected_gene': 'ENSG00000231748', 'score': 10.12}, {'connected_gene': 'TACR2', 'score': 5.28}, {'connected_gene': 'GC10M069434', 'score': 0.44}]
chr10 GH10I069423 69423656 69424876 1.15 [{'connected_gene': 'TSPAN15', 'score': 573.73}, {'connected_gene': 'FAM241B', 'score': 10.67}, {'connected_gene': 'HK1', 'score': 10.12}, {'connected_gene': 'ENSG00000231748', 'score': 10.12}, {'connected_gene': 'TACR2', 'score': 0.44}]
chr10 GH10I069477 69477602 69482653 1.03 [{'connected_gene': 'TSPAN15', 'score': 33.37}, {'connected_gene': 'FAM241B', 'score': 10.17}, {'connected_gene': 'HK1', 'score': 9.84}, {'connected_gene': 'ENSG00000231748', 'score': 9.84}, {'connected_gene': 'GC10M069447', 'score': 0.39}, {'connected_gene': 'TMEM256P1', 'score': 0.26}]
chr10 GH10I069482 69482844 69488546 0.49 [{'connected_gene': 'TSPAN15', 'score': 33.3}, {'connected_gene': 'FAM241B', 'score': 10.91}, {'connected_gene': 'HK1', 'score': 10.06}, {'connected_gene': 'ENSG00000231748', 'score': 10.06}, {'connected_gene': 'GC10M069447', 'score': 0.37}, {'connected_gene': 'TMEM256P1', 'score': 0.28}]
chr10 GH10I069436 69436669 69441022 1.2 [{'connected_gene': 'TSPAN15', 'score': 38.95}, {'connected_gene': 'FAM241B', 'score': 10.55}, {'connected_gene': 'HK1', 'score': 9.99}, {'connected_gene': 'ENSG00000231748', 'score': 9.98}, {'connected_gene': 'ATP5MC1P7', 'score': 0.44}, {'connected_gene': 'GC10M069447', 'score': 0.29}]
chr10 GH10I069441 69441317 69442688 0.2 [{'connected_gene': 'TSPAN15', 'score': 43.77}, {'connected_gene': 'FAM241B', 'score': 10.44}, {'connected_gene': 'ATP5MC1P7', 'score': 0.44}, {'connected_gene': 'GC10M069447', 'score': 0.31}]
chr10 GH10I069456 69456569 69462136 1.2 [{'connected_gene': 'TSPAN15', 'score': 35.82}, {'connected_gene': 'GC10M069447', 'score': 0.44}, {'connected_gene': 'ATP5MC1P7', 'score': 0.31}]
chr10 GH10I069463 69463301 69467610 1.02 [{'connected_gene': 'TSPAN15', 'score': 23.3}, {'connected_gene': 'GC10M069447', 'score': 0.77}, {'connected_gene': 'ATP5MC1P7', 'score': 0.29}]
chr10 GH10I069454 69454707 69455365 0.46 [{'connected_gene': 'TSPAN15', 'score': 38.39}, {'connected_gene': 'GC10M069447', 'score': 0.39}, {'connected_gene': 'ATP5MC1P7', 'score': 0.34}]
chr10 GH10I069427 69427225 69427434 0.82 [{'connected_gene': 'TSPAN15', 'score': 19.13}, {'connected_gene': 'GC10M069434', 'score': 0.44}]
chr10 GH10I069428 69428094 69428534 0.31 [{'connected_gene': 'TSPAN15', 'score': 19.0}, {'connected_gene': 'GC10M069434', 'score': 0.44}]
chr10 GH10I069434 69434405 69434848 0.43 [{'connected_gene': 'ATP5MC1P7', 'score': 550.77}, {'connected_gene': 'GC10M069434', 'score': 550.77}, {'connected_gene': 'TSPAN15', 'score': 0.44}, {'connected_gene': 'GC10M069447', 'score': 0.29}]
chr10 GH10I069475 69475961 69477157 0.2 [{'connected_gene': 'GC10M069447', 'score': 0.44}, {'connected_gene': 'TMEM256P1', 'score': 0.25}, {'connected_gene': 'TSPAN15', 'score': 0.23}]
chr10 GH10I069474 69474001 69475829 0.96 [{'connected_gene': 'GC10M069447', 'score': 0.44}, {'connected_gene': 'TSPAN15', 'score': 0.25}, {'connected_gene': 'TMEM256P1', 'score': 0.25}]
chr10 GH10I069467 69467801 69469434 1.16 [{'connected_gene': 'GC10M069447', 'score': 550.77}, {'connected_gene': 'TSPAN15', 'score': 23.95}, {'connected_gene': 'ATP5MC1P7', 'score': 0.28}]