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
ENST00000388712 [[88641060, 88642808], [88648196, 88648310], [88650282, 88650540], [88651262, 88651422], [88655653, 88655783], [88661384, 88661487], [88667451, 88667506], [88692326, 88692506], [88694106, 88694256], [88714325, 88714473]] [[88642731, 88642808], [88648196, 88648310], [88650282, 88650540], [88651262, 88651422], [88655653, 88655783], [88661384, 88661487], [88667451, 88667506], [88692326, 88692506], [88694106, 88694235]]
ENST00000388711 [[88641061, 88642808], [88648196, 88648310], [88650282, 88650540], [88651262, 88651422], [88655653, 88655783], [88661384, 88661487], [88667451, 88667506], [88692326, 88692506], [88694106, 88694256], [88714939, 88715064]] [[88642731, 88642808], [88648196, 88648310], [88650282, 88650540], [88651262, 88651422], [88655653, 88655783], [88661384, 88661487], [88667451, 88667506], [88692326, 88692506], [88694106, 88694235]]
ENST00000464314 [[88650309, 88650540], [88651262, 88651728]] None
ENST00000257504 [[88650502, 88650540], [88651262, 88651422], [88655653, 88655783], [88661384, 88661487], [88667451, 88667506], [88692326, 88692506], [88692799, 88692927]] None
ENST00000470762 [[88655655, 88655783], [88661384, 88661487], [88692326, 88692506], [88694106, 88694256]] [[88661478, 88661487], [88692326, 88692506], [88694106, 88694235]]
ENST00000472919 [[88661384, 88661487], [88667451, 88667506], [88692326, 88692454], [88694215, 88694256], [88714939, 88715088]] [[88692390, 88692454], [88694215, 88694235]]
ENST00000486130 [[88667451, 88667506], [88692326, 88692506], [88694106, 88694256], [88694596, 88695080]] [[88667451, 88667506], [88692326, 88692506], [88694106, 88694235]]
ENST00000466178 [[88692395, 88692506], [88694106, 88694256], [88699834, 88699954], [88714939, 88715064]] [[88692395, 88692506], [88694106, 88694235]]
NM_016548 [[88641055, 88642808], [88648196, 88648310], [88650282, 88650540], [88651262, 88651422], [88655653, 88655783], [88661384, 88661487], [88667451, 88667506], [88692326, 88692506], [88694106, 88694256], [88714325, 88714510]] [[88642731, 88642808], [88648196, 88648310], [88650282, 88650540], [88651262, 88651422], [88655653, 88655783], [88661384, 88661487], [88667451, 88667506], [88692326, 88692506], [88694106, 88694235]]
NM_177937 [[88641055, 88642808], [88648196, 88648310], [88650282, 88650540], [88651262, 88651422], [88655653, 88655783], [88661384, 88661487], [88667451, 88667506], [88692326, 88692506], [88694106, 88694256], [88714939, 88715116]] [[88642731, 88642808], [88648196, 88648310], [88650282, 88650540], [88651262, 88651422], [88655653, 88655783], [88661384, 88661487], [88667451, 88667506], [88692326, 88692506], [88694106, 88694235]]
Promoter
Chrom Start End Description
chr9 88642014 88642018 CAGE_peak_11_at_GOLM1_5end
chr9 88650579 88650589 CAGE_peak_14_at_GOLM1_5end
chr9 88650651 88650663 CAGE_peak_26_at_GOLM1_5end
chr9 88694438 88694466 CAGE_peak_6_at_GOLM1_5end
chr9 88694473 88694480 CAGE_peak_24_at_GOLM1_5end
chr9 88714421 88714506 CAGE_peak_1_at_GOLM1_5end
chr9 88715023 88715032 CAGE_peak_10_at_GOLM1_5end
chr9 88715044 88715071 CAGE_peak_3_at_GOLM1_5end
chr9 88715078 88715095 CAGE_peak_5_at_GOLM1_5end
chr9 88715101 88715132 CAGE_peak_4_at_GOLM1_5end
chr9 88897426 88897497 CAGE_peak_1_at_ISCA1_5end,CAGE_peak_2_at_GOLM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I086405 86405209 86408415 1.42 [{'connected_gene': 'ZCCHC6', 'score': 13.46}, {'connected_gene': 'GOLM1', 'score': 5.4}, {'connected_gene': 'C9orf153', 'score': 4.35}, {'connected_gene': 'GC09P086413', 'score': 0.44}, {'connected_gene': 'RPS6P13', 'score': 0.29}]
chr9 GH09I085939 85939651 85942899 2.06 [{'connected_gene': 'NAA35', 'score': 550.77}, {'connected_gene': 'GOLM1', 'score': 9.54}, {'connected_gene': 'LOC389765', 'score': 4.9}, {'connected_gene': 'GC09P085989', 'score': 0.25}]
chr9 GH09I085936 85936991 85938406 1.03 [{'connected_gene': 'GOLM1', 'score': 6.84}, {'connected_gene': 'NAA35', 'score': 0.77}, {'connected_gene': 'LOC100130049', 'score': 0.77}]
chr9 GH09I085943 85943108 85943311 0.6 [{'connected_gene': 'GOLM1', 'score': 9.54}, {'connected_gene': 'NAA35', 'score': 0.77}, {'connected_gene': 'GC09P085989', 'score': 0.25}]
chr9 GH09I085971 85971560 85972502 0.31 [{'connected_gene': 'GOLM1', 'score': 6.2}, {'connected_gene': 'GC09P085989', 'score': 0.37}, {'connected_gene': 'NAA35', 'score': 0.29}]
chr9 GH09I086062 86062505 86064183 0.84 [{'connected_gene': 'GOLM1', 'score': 16.21}, {'connected_gene': 'C9orf153', 'score': 9.62}, {'connected_gene': 'RN7SKP264', 'score': 9.62}, {'connected_gene': 'GC09M086071', 'score': 0.39}, {'connected_gene': 'PIR41548', 'score': 0.31}]
chr9 GH09I086122 86122466 86122615 0.31 [{'connected_gene': 'GOLM1', 'score': 12.59}, {'connected_gene': 'LOC101927623', 'score': 0.77}]
chr9 GH09I086042 86042706 86042855 0.31 [{'connected_gene': 'GOLM1', 'score': 11.22}, {'connected_gene': 'PIR41548', 'score': 0.44}, {'connected_gene': 'GC09M086071', 'score': 0.29}]
chr9 GH09I086069 86069169 86069675 0.49 [{'connected_gene': 'GOLM1', 'score': 11.3}, {'connected_gene': 'GC09M086071', 'score': 0.77}, {'connected_gene': 'PIR41548', 'score': 0.29}]
chr9 GH09I086092 86092199 86095874 1.11 [{'connected_gene': 'GOLM1', 'score': 56.46}, {'connected_gene': 'PIR41563', 'score': 0.39}]
chr9 GH09I086098 86098400 86100795 1.79 [{'connected_gene': 'GOLM1', 'score': 609.88}, {'connected_gene': 'PIR41563', 'score': 0.34}]
chr9 GH09I086096 86096445 86096711 0.38 [{'connected_gene': 'GOLM1', 'score': 0.77}, {'connected_gene': 'PIR41563', 'score': 0.37}]
chr9 GH09I086256 86256025 86256154 0.24 [{'connected_gene': 'C9orf153', 'score': 71.52}, {'connected_gene': 'GOLM1', 'score': 10.3}, {'connected_gene': 'RN7SKP264', 'score': 0.77}, {'connected_gene': 'ENSG00000270688', 'score': 0.31}]
chr9 GH09I086126 86126379 86129319 1.13 [{'connected_gene': 'LOC101927623', 'score': 550.77}, {'connected_gene': 'GOLM1', 'score': 18.32}, {'connected_gene': 'LOC100130049', 'score': 4.5}, {'connected_gene': 'LOC100287212', 'score': 0.77}, {'connected_gene': 'GC09P086133', 'score': 0.77}]
chr9 GH09I086106 86106986 86107155 0.87 [{'connected_gene': 'GAS1RR', 'score': 10.16}, {'connected_gene': 'GOLM1', 'score': 0.44}, {'connected_gene': 'LOC101927623', 'score': 0.34}]
chr9 GH09I086076 86076989 86078242 0.2 [{'connected_gene': 'PIR41563', 'score': 550.77}, {'connected_gene': 'GOLM1', 'score': 21.49}, {'connected_gene': 'C9orf153', 'score': 10.07}, {'connected_gene': 'RN7SKP264', 'score': 10.07}, {'connected_gene': 'GC09M086071', 'score': 0.77}]
chr9 GH09I086078 86078366 86078515 0.2 [{'connected_gene': 'PIR41563', 'score': 550.77}, {'connected_gene': 'GC09M086071', 'score': 0.77}, {'connected_gene': 'GOLM1', 'score': 0.34}]
chr9 GH09I086072 86072486 86072635 0.46 [{'connected_gene': 'GC09M086071', 'score': 550.77}, {'connected_gene': 'GOLM1', 'score': 11.8}, {'connected_gene': 'PIR41548', 'score': 0.28}]
chr9 GH09I086079 86079786 86079935 0.31 [{'connected_gene': 'PIR41563', 'score': 550.77}, {'connected_gene': 'GOLM1', 'score': 0.34}]
chr9 GH09I086074 86074920 86075726 0.2 [{'connected_gene': 'GC09M086071', 'score': 550.77}, {'connected_gene': 'GOLM1', 'score': 22.83}, {'connected_gene': 'PIR41563', 'score': 0.77}]
chr9 GH09I086080 86079606 86079755 0.31 [{'connected_gene': 'PIR41563', 'score': 550.77}, {'connected_gene': 'GOLM1', 'score': 0.34}]

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