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
ENST00000479290 [[39369196, 39371376], [39371460, 39372131], [39374266, 39374396], [39379726, 39380784], [39384053, 39384748]] None
ENST00000462654 [[39369196, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39385050]] None
ENST00000249396 [[39369196, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39389018, 39389065], [39390145, 39390463]] [[39369794, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39389018, 39389065], [39390145, 39390161]]
ENST00000392081 [[39369196, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39390145, 39390502]] [[39369794, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384459]]
ENST00000358931 [[39369220, 39369950], [39370073, 39370140], [39371489, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39389018, 39389065], [39390145, 39390353]] [[39370119, 39370140], [39371489, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39389018, 39389065], [39390145, 39390161]]
ENST00000496069 [[39369933, 39369950], [39370073, 39370140], [39370271, 39370793]] None
ENST00000414941 [[39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39389018, 39389065], [39389433, 39389558], [39390145, 39390463]] [[39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384459]]
ENST00000420440 [[39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39379893, 39379963], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39390145, 39390318]] [[39379948, 39379963], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384459]]
ENST00000443898 [[39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384611], [39389018, 39389065], [39390145, 39390351]] [[39384092, 39384167], [39384458, 39384611], [39389018, 39389065], [39390145, 39390161]]
ENST00000407552 [[39374278, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39389433, 39389558], [39390145, 39390354]] [[39374278, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384459]]
ENST00000381766 [[39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384917]] [[39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384459]]
ENST00000491960 [[39379808, 39379963], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39390145, 39390240]] None
ENST00000476771 [[39379870, 39379963], [39380328, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39390145, 39390158]] None
ENST00000451193 [[39380336, 39380385], [39380494, 39380601], [39380742, 39380784], [39381204, 39381302], [39384053, 39384167], [39384458, 39384507], [39390145, 39390242]] [[39381297, 39381302], [39384053, 39384167], [39384458, 39384459]]
ENST00000423526 [[39380499, 39380601], [39380742, 39380784], [39382433, 39382606], [39384053, 39384167], [39384458, 39384507], [39390145, 39390221]] [[39382562, 39382606], [39384053, 39384167], [39384458, 39384459]]
ENST00000437828 [[39380522, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384638], [39390145, 39390285]] [[39380522, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384459]]
ENST00000447739 [[39380538, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384611], [39390145, 39390351]] [[39380538, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384459]]
ENST00000481381 [[39389019, 39389554], [39390145, 39390228]] None
NR_034146 [[39369194, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384795]] None
NM_012237 [[39369194, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39389018, 39389065], [39390145, 39390463]] [[39369794, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39389018, 39389065], [39390145, 39390161]]
NM_030593 [[39369194, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39390145, 39390502]] [[39369794, 39369950], [39370073, 39370140], [39370271, 39370342], [39371324, 39371376], [39371460, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384459]]
NM_001193286 [[39369194, 39369950], [39370073, 39370140], [39371489, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384507], [39390145, 39390502]] [[39370119, 39370140], [39371489, 39371537], [39371739, 39371795], [39372071, 39372131], [39374266, 39374396], [39379726, 39379795], [39380328, 39380385], [39380494, 39380601], [39380742, 39380784], [39384053, 39384167], [39384458, 39384459]]
Promoter
Chrom Start End Description
chr19 39390150 39390161 CAGE_peak_4_at_SIRT2_5end
chr19 39390172 39390210 CAGE_peak_2_at_SIRT2_5end
chr19 39390212 39390305 CAGE_peak_1_at_SIRT2_5end
chr19 39390350 39390363 CAGE_peak_3_at_SIRT2_5end
chr19 39390440 39390464 CAGE_peak_5_at_SIRT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I038777 38777004 38777581 0.46 [{'connected_gene': 'LGALS7', 'score': 40.79}, {'connected_gene': 'NFKBIB', 'score': 11.33}, {'connected_gene': 'SIRT2', 'score': 11.33}, {'connected_gene': 'CAPN12', 'score': 5.12}, {'connected_gene': 'LGALS7B', 'score': 0.39}]
chr19 GH19I038884 38884954 38887285 0.9 [{'connected_gene': 'PAF1', 'score': 11.62}, {'connected_gene': 'SUPT5H', 'score': 10.8}, {'connected_gene': 'SAMD4B', 'score': 10.09}, {'connected_gene': 'SIRT2', 'score': 7.18}, {'connected_gene': 'ERVK9-11', 'score': 6.26}, {'connected_gene': 'GC19M038871', 'score': 0.77}, {'connected_gene': 'NFKBIB', 'score': 0.39}]
chr19 GH19I038898 38898061 38901768 2.12 [{'connected_gene': 'NFKBIB', 'score': 550.77}, {'connected_gene': 'SIRT2', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 59.0}, {'connected_gene': 'FBL', 'score': 53.04}, {'connected_gene': 'SUPT5H', 'score': 29.38}, {'connected_gene': 'ENSG00000269688', 'score': 22.72}, {'connected_gene': 'PLEKHG2', 'score': 22.22}, {'connected_gene': 'RN7SL566P', 'score': 21.67}, {'connected_gene': 'ACTN4', 'score': 20.25}, {'connected_gene': 'SAMD4B', 'score': 19.81}, {'connected_gene': 'RPS16', 'score': 18.96}, {'connected_gene': 'SARS2', 'score': 17.49}, {'connected_gene': 'PAK4', 'score': 14.35}, {'connected_gene': 'ENSG00000267892', 'score': 13.54}, {'connected_gene': 'PAF1', 'score': 11.63}, {'connected_gene': 'ENSG00000268756', 'score': 10.23}, {'connected_gene': 'ERVK9-11', 'score': 10.16}, {'connected_gene': 'FBXO17', 'score': 9.96}, {'connected_gene': 'EID2B', 'score': 9.74}, {'connected_gene': 'C19orf33', 'score': 5.49}, {'connected_gene': 'LGALS4', 'score': 4.17}, {'connected_gene': 'PIR42249', 'score': 0.44}]
chr19 GH19I038891 38891466 38892176 0.31 [{'connected_gene': 'NFKBIB', 'score': 0.44}, {'connected_gene': 'SIRT2', 'score': 0.44}, {'connected_gene': 'GC19M038871', 'score': 0.39}]
chr19 GH19I038893 38893125 38893733 0.31 [{'connected_gene': 'NFKBIB', 'score': 0.44}, {'connected_gene': 'SIRT2', 'score': 0.44}, {'connected_gene': 'GC19M038871', 'score': 0.39}]
chr19 GH19I038890 38890717 38891289 0.4 [{'connected_gene': 'SIRT2', 'score': 7.88}, {'connected_gene': 'NFKBIB', 'score': 0.44}, {'connected_gene': 'GC19M038871', 'score': 0.44}]
chr19 GH19I038887 38887541 38887730 0.92 [{'connected_gene': 'SIRT2', 'score': 7.17}, {'connected_gene': 'GC19M038871', 'score': 0.44}, {'connected_gene': 'NFKBIB', 'score': 0.39}]
chr19 GH19I039052 39052321 39054664 0.89 [{'connected_gene': 'FBXO27', 'score': 62.81}, {'connected_gene': 'PAK4', 'score': 11.37}, {'connected_gene': 'NFKBIB', 'score': 10.78}, {'connected_gene': 'SIRT2', 'score': 10.78}, {'connected_gene': 'FBXO17', 'score': 9.96}, {'connected_gene': 'GC19M039038', 'score': 0.39}, {'connected_gene': 'GC19P039085', 'score': 0.31}]
chr19 GH19I039061 39061541 39061570 0.74 [{'connected_gene': 'FBXO27', 'score': 12.69}, {'connected_gene': 'PAK4', 'score': 11.38}, {'connected_gene': 'NFKBIB', 'score': 10.78}, {'connected_gene': 'SIRT2', 'score': 10.78}, {'connected_gene': 'FBXO17', 'score': 9.95}, {'connected_gene': 'GC19M039038', 'score': 0.34}, {'connected_gene': 'GC19P039085', 'score': 0.34}]
chr19 GH19I039059 39059689 39059762 0.34 [{'connected_gene': 'FBXO27', 'score': 12.69}, {'connected_gene': 'PAK4', 'score': 11.38}, {'connected_gene': 'SIRT2', 'score': 10.78}, {'connected_gene': 'NFKBIB', 'score': 10.78}, {'connected_gene': 'ACP7', 'score': 1.77}, {'connected_gene': 'LGALS7', 'score': 1.7}, {'connected_gene': 'EID2B', 'score': 1.36}, {'connected_gene': 'GC19M039038', 'score': 0.37}, {'connected_gene': 'GC19P039085', 'score': 0.34}]
chr19 GH19I038876 38876690 38881600 1.8 [{'connected_gene': 'RINL', 'score': 556.01}, {'connected_gene': 'PAF1', 'score': 11.62}, {'connected_gene': 'SUPT5H', 'score': 10.8}, {'connected_gene': 'SAMD4B', 'score': 10.09}, {'connected_gene': 'LGALS7', 'score': 9.81}, {'connected_gene': 'LRFN1', 'score': 5.06}, {'connected_gene': 'LGALS4', 'score': 4.89}, {'connected_gene': 'FBXO17', 'score': 4.82}, {'connected_gene': 'ENSG00000267892', 'score': 4.07}, {'connected_gene': 'GC19M038871', 'score': 0.77}, {'connected_gene': 'SIRT2', 'score': 0.34}]
chr19 GH19I038883 38883228 38884097 0.74 [{'connected_gene': 'PAK4', 'score': 10.9}, {'connected_gene': 'GC19M038871', 'score': 0.77}, {'connected_gene': 'NFKBIB', 'score': 0.37}, {'connected_gene': 'SIRT2', 'score': 0.37}]
chr19 GH19I038882 38882881 38883050 1.13 [{'connected_gene': 'GC19M038871', 'score': 550.77}, {'connected_gene': 'NFKBIB', 'score': 0.37}, {'connected_gene': 'SIRT2', 'score': 0.37}]
chr19 GH19I038934 38934041 38934793 0.64 [{'connected_gene': 'PIR45188', 'score': 550.77}, {'connected_gene': 'FBXO17', 'score': 17.61}, {'connected_gene': 'SARS2', 'score': 13.07}, {'connected_gene': 'NFKBIB', 'score': 12.24}, {'connected_gene': 'SIRT2', 'score': 12.24}, {'connected_gene': 'ERVK9-11', 'score': 8.62}, {'connected_gene': 'ENSG00000269547', 'score': 0.37}]

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