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
ENST00000272748 [[176788619, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860285, 176860374], [176866887, 176867073]] [[176794694, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860285, 176860312]]
ENST00000409660 [[176793900, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176860285, 176860374], [176866887, 176867002]] [[176794694, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829305]]
ENST00000544803 [[176794672, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176805715, 176805808], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860285, 176860374], [176866887, 176867003]] [[176794694, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176805715, 176805808], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860285, 176860312]]
ENST00000535310 [[176794710, 176794927], [176796815, 176796890], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176858861, 176859008], [176860285, 176860374], [176867239, 176867514]] [[176796879, 176796890], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176856990]]
ENST00000479012 [[176794666, 176794927], [176802071, 176802584]] None
ENST00000475515 [[176794673, 176794927], [176796815, 176796890], [176802071, 176802242], [176803040, 176803064]] None
ENST00000431754 [[176794696, 176794927], [176802071, 176802242], [176804279, 176804385], [176812207, 176812238]] [[176802169, 176802242], [176804279, 176804385], [176812207, 176812238]]
ENST00000489827 [[176802195, 176802242], [176803040, 176803535]] None
ENST00000480788 [[176802205, 176802242], [176803040, 176803111], [176804279, 176804482]] None
ENST00000392540 [[176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860280, 176860374], [176866887, 176866991]] [[176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860280, 176860292]]
ENST00000483230 [[176856958, 176857001], [176860285, 176860374], [176866887, 176867007]] None
ENST00000445472 [[176856966, 176857146], [176857909, 176857951], [176860285, 176860374], [176867239, 176867567]] [[176856966, 176857146], [176857909, 176857951], [176860285, 176860312]]
ENST00000466445 [[176857908, 176857951], [176858861, 176859008], [176860285, 176860374], [176867239, 176867514]] None
NM_001305008 [[176788619, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860280, 176860374], [176866887, 176867073]] [[176794694, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860280, 176860374], [176866887, 176867018]]
NM_001305009 [[176788619, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176805715, 176805808], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860285, 176860374], [176866887, 176867073]] [[176794694, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176805715, 176805808], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860285, 176860312]]
NM_030650 [[176788619, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860285, 176860374], [176866887, 176867073]] [[176794694, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176860285, 176860312]]
NM_001305010 [[176788619, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857001], [176860285, 176860374], [176866887, 176867073]] [[176794694, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857001], [176860285, 176860374], [176866887, 176867018]]
NM_001305011 [[176788619, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176860285, 176860374], [176866887, 176867073]] [[176794694, 176794927], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829305]]
NR_130941 [[176788619, 176794927], [176796815, 176796890], [176802071, 176802242], [176803040, 176803111], [176804279, 176804385], [176812207, 176812420], [176829099, 176829151], [176829233, 176829317], [176835491, 176835532], [176844537, 176844596], [176856958, 176857146], [176857909, 176857951], [176858861, 176859008], [176860285, 176860374], [176867239, 176867567]] None
Promoter
Chrom Start End Description
chr2 176866961 176866972 CAGE_peak_2_at_KIAA1715_5end
chr2 176866978 176867023 CAGE_peak_1_at_KIAA1715_5end
chr2 176867501 176867518 CAGE_peak_9_at_KIAA1715_5end
chr2 176867534 176867553 CAGE_peak_3_at_KIAA1715_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I176075 176075342 176076682 1.12 [{'connected_gene': 'LNPK', 'score': 8.12}, {'connected_gene': 'EVX2', 'score': 0.44}, {'connected_gene': 'GC02M176020', 'score': 0.22}]
chr2 GH02I175974 175974674 175975029 0.22 [{'connected_gene': 'LNPK', 'score': 11.69}, {'connected_gene': 'HOXD11', 'score': 9.8}, {'connected_gene': 'HOXD12', 'score': 9.8}, {'connected_gene': 'HAGLROS', 'score': 4.5}, {'connected_gene': 'GC02M175980', 'score': 0.39}, {'connected_gene': 'ENSG00000229779', 'score': 0.2}]
chr2 GH02I176000 176000764 176003200 2.31 [{'connected_gene': 'LNPK', 'score': 563.2}, {'connected_gene': 'HAGLROS', 'score': 4.8}, {'connected_gene': 'GC02M175980', 'score': 0.37}]
chr2 GH02I175931 175931612 175932303 0.31 [{'connected_gene': 'LNPK', 'score': 27.41}, {'connected_gene': 'ENSG00000229779', 'score': 0.31}, {'connected_gene': 'GC02M175980', 'score': 0.23}]
chr2 GH02I175999 175999801 176000000 0.38 [{'connected_gene': 'LNPK', 'score': 17.95}, {'connected_gene': 'GC02M175980', 'score': 0.39}]
chr2 GH02I176003 176003601 176003800 0.31 [{'connected_gene': 'LNPK', 'score': 550.77}, {'connected_gene': 'GC02M175980', 'score': 0.37}]
chr2 GH02I176096 176096463 176098282 0.94 [{'connected_gene': 'HOXD12', 'score': 550.77}, {'connected_gene': 'HAGLROS', 'score': 6.73}, {'connected_gene': 'LNPK', 'score': 5.12}, {'connected_gene': 'HOXD13', 'score': 0.44}]
chr2 GH02I176073 176073451 176073970 0.76 [{'connected_gene': 'HOXD11', 'score': 11.35}, {'connected_gene': 'HOXD12', 'score': 11.34}, {'connected_gene': 'HOXD10', 'score': 11.34}, {'connected_gene': 'HOXD1', 'score': 10.14}, {'connected_gene': 'HAGLR', 'score': 10.13}, {'connected_gene': 'LNPK', 'score': 4.46}, {'connected_gene': 'EVX2', 'score': 0.39}, {'connected_gene': 'GC02M176020', 'score': 0.23}]
chr2 GH02I175852 175852857 175857160 1.22 [{'connected_gene': 'GC02P175853', 'score': 550.77}, {'connected_gene': 'LNPK', 'score': 5.08}, {'connected_gene': 'GC02P175890', 'score': 0.28}]
chr2 GH02I175929 175929993 175930142 0.31 [{'connected_gene': 'ENSG00000229779', 'score': 0.34}, {'connected_gene': 'GC02M175980', 'score': 0.22}, {'connected_gene': 'LNPK', 'score': 0.18}]
chr2 GH02I175964 175964781 175965104 0.51 [{'connected_gene': 'GC02M175980', 'score': 0.34}, {'connected_gene': 'LNPK', 'score': 0.26}, {'connected_gene': 'ENSG00000229779', 'score': 0.22}]
chr2 GH02I175926 175926373 175926482 0.2 [{'connected_gene': 'ENSG00000229779', 'score': 0.34}, {'connected_gene': 'GC02M175980', 'score': 0.22}, {'connected_gene': 'LNPK', 'score': 0.18}]

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