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
ENST00000272348 [[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70520749, 70520903]] [[70508765, 70508816], [70515199, 70515324], [70516481, 70516504], [70520749, 70520781]]
ENST00000429728 [[70508498, 70508816], [70515199, 70515324], [70520749, 70520872]] None
ENST00000482975 [[70508635, 70508816], [70515199, 70515324], [70516481, 70516504], [70519806, 70520570]] [[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
ENST00000438261 [[70508636, 70508816], [70515199, 70515324], [70516481, 70516504], [70518412, 70518441], [70520422, 70520580]] [[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
ENST00000449935 [[70508638, 70508816], [70515199, 70515324], [70516481, 70516504], [70519806, 70519908]] [[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
ENST00000413456 [[70508638, 70508816], [70515199, 70515324], [70516481, 70516504], [70520284, 70520356]] [[70508765, 70508816], [70515199, 70515324], [70516481, 70516504], [70520284, 70520292]]
ENST00000454893 [[70508638, 70508816], [70514396, 70514503], [70515199, 70515324], [70516481, 70516504], [70520749, 70520843]] [[70508812, 70508816], [70514396, 70514503], [70515199, 70515324], [70516481, 70516504], [70520749, 70520781]]
ENST00000480370 [[70514939, 70515324], [70520749, 70520851]] None
ENST00000488400 [[70515067, 70515324], [70516481, 70516504], [70520749, 70520862]] None
NM_001317167 [[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70520284, 70520356]] [[70508765, 70508816], [70515199, 70515324], [70516481, 70516504], [70520284, 70520292]]
NM_001317168 [[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70519806, 70520590]] [[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
NM_001317169 [[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70518412, 70518441], [70520422, 70520590]] [[70508765, 70508816], [70515199, 70515324], [70516481, 70516500]]
NM_001317165 [[70508493, 70508816], [70514396, 70514503], [70515199, 70515324], [70516481, 70516504], [70520749, 70520903]] [[70508812, 70508816], [70514396, 70514503], [70515199, 70515324], [70516481, 70516504], [70520749, 70520781]]
NM_003096 [[70508493, 70508816], [70515199, 70515324], [70516481, 70516504], [70520749, 70520903]] [[70508765, 70508816], [70515199, 70515324], [70516481, 70516504], [70520749, 70520781]]
NM_001317166 [[70508493, 70508816], [70515202, 70515324], [70516481, 70516504], [70520749, 70520903]] [[70508765, 70508816], [70515202, 70515324], [70516481, 70516504], [70520749, 70520781]]
NM_001317171 [[70508493, 70508816], [70515199, 70515324], [70520749, 70520903]] [[70508765, 70508816], [70515199, 70515324], [70520749, 70520750]]
Promoter
Chrom Start End Description
chr2 70520539 70520585 CAGE_peak_3_at_SNRPG_5end
chr2 70520810 70520831 CAGE_peak_2_at_SNRPG_5end
chr2 70520832 70520881 CAGE_peak_1_at_SNRPG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I070291 70291167 70295237 2.1 [{'connected_gene': 'SNRPG', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 34.02}, {'connected_gene': 'CLEC4F', 'score': 32.44}, {'connected_gene': 'TEX261', 'score': 30.91}, {'connected_gene': 'TIA1', 'score': 28.03}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'PCYOX1', 'score': 13.45}, {'connected_gene': 'C2orf42', 'score': 11.83}, {'connected_gene': 'NAGK', 'score': 10.52}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.02}, {'connected_gene': 'GC02P070271', 'score': 0.34}]
chr2 GH02I069945 69944802 69949062 1.66 [{'connected_gene': 'MXD1', 'score': 27.1}, {'connected_gene': 'SNRNP27', 'score': 19.11}, {'connected_gene': 'ASPRV1', 'score': 17.38}, {'connected_gene': 'TIA1', 'score': 11.96}, {'connected_gene': 'PCBP1', 'score': 10.33}, {'connected_gene': 'GMCL1', 'score': 9.54}, {'connected_gene': 'SNRPG', 'score': 5.68}, {'connected_gene': 'PIR33848', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.13}]