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
ENST00000264995 [[131181055, 131181719], [131186934, 131187012], [131188539, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219365], [131220374, 131220559], [131221573, 131221813]] [[131181566, 131181719], [131186934, 131187012], [131188539, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219365], [131220374, 131220559], [131221573, 131221665]]
ENST00000511168 [[131181279, 131181719], [131186934, 131187012], [131188539, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219365], [131220374, 131220559], [131221692, 131221827]] [[131181566, 131181719], [131186934, 131187012], [131188539, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219365], [131220374, 131220559], [131221692, 131221827]]
ENST00000425847 [[131181399, 131181719], [131186934, 131187012], [131188539, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219365], [131220374, 131220559], [131220687, 131220768], [131221573, 131221827]] [[131181566, 131181719], [131186934, 131187012], [131188539, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219365], [131220374, 131220559], [131220687, 131220768], [131221573, 131221665]]
ENST00000507669 [[131188575, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219365], [131220374, 131220559], [131221626, 131221786]] [[131188575, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219327]]
ENST00000510043 [[131181397, 131181719], [131186934, 131187012], [131188539, 131188617], [131190016, 131190178]] None
ENST00000506487 [[131205993, 131206584], [131208824, 131208867]] None
ENST00000512877 [[131206524, 131206584], [131208824, 131208924], [131219273, 131219365], [131220374, 131220559], [131221573, 131221795]] [[131206524, 131206584], [131208824, 131208924], [131219273, 131219365], [131220374, 131220559], [131221573, 131221665]]
ENST00000506946 [[131207514, 131207644], [131208824, 131208924], [131217022, 131217121], [131219273, 131219328]] None
ENST00000510923 [[131216823, 131217121], [131219273, 131219365], [131220374, 131220559], [131221573, 131221811]] None
ENST00000510154 [[131217090, 131217121], [131219273, 131219365], [131220374, 131220559], [131220687, 131220768], [131221638, 131221781]] [[131217090, 131217121], [131219273, 131219327]]
NM_007208 [[131181044, 131181719], [131186934, 131187012], [131188539, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219365], [131220374, 131220559], [131221573, 131221860]] [[131181566, 131181719], [131186934, 131187012], [131188539, 131188617], [131190014, 131190123], [131206523, 131206584], [131208824, 131208924], [131217022, 131217121], [131219273, 131219365], [131220374, 131220559], [131221573, 131221665]]
Promoter
Chrom Start End Description
chr3 131221661 131221675 CAGE_peak_4_at_MRPL3_5end
chr3 131221688 131221701 CAGE_peak_3_at_MRPL3_5end
chr3 131221771 131221789 CAGE_peak_2_at_MRPL3_5end
chr3 131221790 131221835 CAGE_peak_1_at_MRPL3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I131380 131380240 131382801 2.16 [{'connected_gene': 'NUDT16', 'score': 557.4}, {'connected_gene': 'LOC339874', 'score': 550.77}, {'connected_gene': 'PIK3R4', 'score': 20.43}, {'connected_gene': 'ATP2C1', 'score': 11.33}, {'connected_gene': 'MRPL3', 'score': 10.27}, {'connected_gene': 'ASTE1', 'score': 10.1}]
chr3 GH03I131501 131501429 131503801 2.1 [{'connected_gene': 'MRPL3', 'score': 561.62}, {'connected_gene': 'LOC105374114', 'score': 550.77}, {'connected_gene': 'PIK3R4', 'score': 14.01}, {'connected_gene': 'ENSG00000261167', 'score': 10.91}, {'connected_gene': 'DNAJC13', 'score': 9.77}]