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
ENST00000491890 [[71390006, 71390069], [71391235, 71391595], [71392545, 71392868]] None
ENST00000373279 [[71390013, 71390069], [71391235, 71391303], [71391464, 71391595], [71392545, 71393352]] [[71391499, 71391595], [71392545, 71392815]]
ENST00000421716 [[71390299, 71390415], [71391235, 71391303], [71391464, 71391595], [71392545, 71392633]] [[71390392, 71390415], [71391235, 71391303], [71391464, 71391595], [71392545, 71392633]]
Promoter
Chrom Start End Description
chr10 71389983 71390040 CAGE_peak_1_at_C10orf35_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 GH10I069695 69695555 69696774 0.72 [{'connected_gene': 'CCAR1', 'score': 15.86}, {'connected_gene': 'SAR1A', 'score': 14.2}, {'connected_gene': 'DDX50', 'score': 13.78}, {'connected_gene': 'COL13A1', 'score': 10.93}, {'connected_gene': 'FAM241B', 'score': 10.74}, {'connected_gene': 'GC10P069687', 'score': 0.44}, {'connected_gene': 'RPL5P26', 'score': 0.18}]
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 GH10I069637 69637005 69637154 0.49 [{'connected_gene': 'NEUROG3', 'score': 11.28}, {'connected_gene': 'LOC101929021', 'score': 11.28}, {'connected_gene': 'COL13A1', 'score': 10.57}, {'connected_gene': 'FAM241B', 'score': 0.44}, {'connected_gene': 'LOC105378346', 'score': 0.25}]
chr10 GH10I069237 69237508 69238054 1.06 [{'connected_gene': 'HK1', 'score': 11.57}, {'connected_gene': 'ENSG00000231748', 'score': 11.57}, {'connected_gene': 'HKDC1', 'score': 9.68}, {'connected_gene': 'FAM241B', 'score': 9.35}, {'connected_gene': 'CCAR1', 'score': 4.95}, {'connected_gene': 'LOC101928994', 'score': 0.44}]
chr10 GH10I069312 69312685 69312834 0.49 [{'connected_gene': 'HK1', 'score': 11.98}, {'connected_gene': 'ENSG00000231748', 'score': 11.98}, {'connected_gene': 'HKDC1', 'score': 10.26}, {'connected_gene': 'FAM241B', 'score': 9.84}, {'connected_gene': 'RPS15AP28', 'score': 0.39}, {'connected_gene': 'TACR2', 'score': 0.15}]
chr10 GH10I069314 69312894 69313414 0.73 [{'connected_gene': 'HK1', 'score': 20.62}, {'connected_gene': 'ENSG00000231748', 'score': 11.96}, {'connected_gene': 'HKDC1', 'score': 10.26}, {'connected_gene': 'FAM241B', 'score': 9.84}, {'connected_gene': 'RPS15AP28', 'score': 0.39}, {'connected_gene': 'TACR2', 'score': 0.15}]
chr10 GH10I069313 69313875 69314110 0.63 [{'connected_gene': 'HK1', 'score': 11.98}, {'connected_gene': 'ENSG00000231748', 'score': 11.96}, {'connected_gene': 'HKDC1', 'score': 10.26}, {'connected_gene': 'FAM241B', 'score': 9.84}, {'connected_gene': 'RPS15AP28', 'score': 0.39}, {'connected_gene': 'TACR2', 'score': 0.15}]
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 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 GH10I069629 69629645 69630801 1.96 [{'connected_gene': 'FAM241B', 'score': 562.98}, {'connected_gene': 'CCAR1', 'score': 15.86}, {'connected_gene': 'SAR1A', 'score': 14.18}, {'connected_gene': 'DDX50', 'score': 13.78}, {'connected_gene': 'MTND1P20', 'score': 0.29}]
chr10 GH10I069898 69898065 69902548 1.36 [{'connected_gene': 'FAM241B', 'score': 9.81}, {'connected_gene': 'H2AFY2', 'score': 2.0}, {'connected_gene': 'LOC105378347', 'score': 0.18}, {'connected_gene': 'COL13A1', 'score': 0.15}, {'connected_gene': 'LOC102723350', 'score': 0.13}]
chr10 GH10I069863 69863118 69865582 0.94 [{'connected_gene': 'FAM241B', 'score': 10.06}, {'connected_gene': 'PPA1', 'score': 5.23}, {'connected_gene': 'LOC105378347', 'score': 0.26}, {'connected_gene': 'COL13A1', 'score': 0.21}, {'connected_gene': 'LOC102723350', 'score': 0.1}]
chr10 GH10I069576 69576019 69578973 0.79 [{'connected_gene': 'FAM241B', 'score': 11.73}, {'connected_gene': 'NEUROG3', 'score': 0.77}, {'connected_gene': 'LOC101929021', 'score': 0.77}, {'connected_gene': 'MTATP6P23', 'score': 0.39}]
chr10 GH10I069865 69865599 69870180 1.33 [{'connected_gene': 'FAM241B', 'score': 10.05}, {'connected_gene': 'COL13A1', 'score': 4.94}, {'connected_gene': 'LOC105378347', 'score': 0.25}, {'connected_gene': 'LOC102723350', 'score': 0.1}]
chr10 GH10I069895 69895073 69897948 1.08 [{'connected_gene': 'FAM241B', 'score': 9.81}, {'connected_gene': 'COL13A1', 'score': 2.25}, {'connected_gene': 'LOC105378347', 'score': 0.18}, {'connected_gene': 'LOC102723350', 'score': 0.13}]
chr10 GH10I069883 69883194 69884648 0.76 [{'connected_gene': 'FAM241B', 'score': 10.41}, {'connected_gene': 'LOC105378347', 'score': 0.21}, {'connected_gene': 'COL13A1', 'score': 0.18}, {'connected_gene': 'LOC102723350', 'score': 0.12}]
chr10 GH10I069876 69876866 69878610 0.69 [{'connected_gene': 'FAM241B', 'score': 9.77}, {'connected_gene': 'LOC105378347', 'score': 0.22}, {'connected_gene': 'COL13A1', 'score': 0.18}, {'connected_gene': 'LOC102723350', 'score': 0.11}]
chr10 GH10I069871 69871165 69871374 0.51 [{'connected_gene': 'FAM241B', 'score': 10.05}, {'connected_gene': 'LOC105378347', 'score': 0.23}, {'connected_gene': 'COL13A1', 'score': 0.2}, {'connected_gene': 'LOC102723350', 'score': 0.11}]
chr10 GH10I069878 69878748 69882604 0.69 [{'connected_gene': 'FAM241B', 'score': 10.41}, {'connected_gene': 'LOC105378347', 'score': 0.22}, {'connected_gene': 'COL13A1', 'score': 0.18}, {'connected_gene': 'LOC102723350', 'score': 0.12}]
chr10 GH10I069914 69914485 69914594 0.54 [{'connected_gene': 'FAM241B', 'score': 10.3}, {'connected_gene': 'LOC105378347', 'score': 0.16}, {'connected_gene': 'LOC102723350', 'score': 0.15}, {'connected_gene': 'COL13A1', 'score': 0.14}]
chr10 GH10I069916 69914745 69914894 0.69 [{'connected_gene': 'FAM241B', 'score': 10.3}, {'connected_gene': 'LOC105378347', 'score': 0.16}, {'connected_gene': 'LOC102723350', 'score': 0.15}, {'connected_gene': 'COL13A1', 'score': 0.14}]
chr10 GH10I069655 69655764 69656311 0.52 [{'connected_gene': 'FAM241B', 'score': 11.15}, {'connected_gene': 'LOC105378346', 'score': 0.31}]
chr10 GH10I069640 69639325 69639554 0.71 [{'connected_gene': 'FAM241B', 'score': 21.45}, {'connected_gene': 'LOC105378346', 'score': 0.25}]
chr10 GH10I069639 69639674 69640868 0.46 [{'connected_gene': 'FAM241B', 'score': 20.05}, {'connected_gene': 'LOC105378346', 'score': 0.26}]
chr10 GH10I069663 69663685 69663814 0.46 [{'connected_gene': 'FAM241B', 'score': 10.9}, {'connected_gene': 'LOC105378346', 'score': 0.34}]
chr10 GH10I069626 69626873 69627126 0.23 [{'connected_gene': 'FAM241B', 'score': 13.39}, {'connected_gene': 'MTND1P20', 'score': 0.29}]
chr10 GH10I069872 69872038 69875303 0.4 [{'connected_gene': 'COL13A1', 'score': 11.31}, {'connected_gene': 'FAM241B', 'score': 10.08}, {'connected_gene': 'SRGN', 'score': 4.92}, {'connected_gene': 'LOC105378347', 'score': 0.23}, {'connected_gene': 'LOC102723350', 'score': 0.11}]
chr10 GH10I069845 69845450 69848512 0.99 [{'connected_gene': 'COL13A1', 'score': 11.69}, {'connected_gene': 'FAM241B', 'score': 10.26}, {'connected_gene': 'LOC105378347', 'score': 0.31}, {'connected_gene': 'LOC102723350', 'score': 0.09}]
chr10 GH10I069644 69644685 69644814 0.67 [{'connected_gene': 'COL13A1', 'score': 11.15}, {'connected_gene': 'FAM241B', 'score': 0.39}, {'connected_gene': 'LOC105378346', 'score': 0.26}]
chr10 GH10I069645 69645348 69645546 0.4 [{'connected_gene': 'COL13A1', 'score': 11.15}, {'connected_gene': 'FAM241B', 'score': 0.37}, {'connected_gene': 'LOC105378346', 'score': 0.28}]
chr10 GH10I069683 69683295 69687119 1.14 [{'connected_gene': 'LOC105378346', 'score': 550.77}, {'connected_gene': 'GC10P069687', 'score': 550.77}, {'connected_gene': 'FAM241B', 'score': 11.19}]
chr10 GH10I069538 69538556 69538758 0.24 [{'connected_gene': 'LOC105378345', 'score': 550.77}, {'connected_gene': 'HK1', 'score': 61.45}, {'connected_gene': 'NEUROG3', 'score': 12.19}, {'connected_gene': 'LOC101929021', 'score': 12.19}, {'connected_gene': 'FAM241B', 'score': 11.38}, {'connected_gene': 'TMEM256P1', 'score': 0.39}]
chr10 GH10I069595 69595893 69596066 0.22 [{'connected_gene': 'MTND2P15', 'score': 550.77}, {'connected_gene': 'MTND1P20', 'score': 550.77}, {'connected_gene': 'FAM241B', 'score': 12.46}, {'connected_gene': 'NEUROG3', 'score': 12.11}, {'connected_gene': 'LOC101929021', 'score': 12.11}]