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
ENST00000244458 [[34433915, 34434047], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34503006]] [[34494082, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]
ENST00000374043 [[34433915, 34434047], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34503006]] [[34495171, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]
ENST00000493633 [[34452846, 34452921], [34494019, 34494145], [34495108, 34495491]] None
ENST00000538621 [[34482663, 34482845], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34502998]] [[34494082, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]
ENST00000486120 [[34482665, 34482845], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329]] None
ENST00000487760 [[34482666, 34482845], [34494019, 34494145], [34495108, 34495471]] None
NM_020804 [[34433837, 34434047], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34503000]] [[34494082, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]
NM_001199583 [[34482648, 34482845], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34503000]] [[34494082, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]
Promoter
Chrom Start End Description
chr6 34433844 34433921 CAGE_peak_1_at_PACSIN1_5end
chr6 34482603 34482614 CAGE_peak_3_at_PACSIN1_5end
chr6 34482630 34482655 CAGE_peak_2_at_PACSIN1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I034551 34551916 34553429 0.57 [{'connected_gene': 'ZNF76', 'score': 15.59}, {'connected_gene': 'TAF11', 'score': 15.26}, {'connected_gene': 'LEMD2', 'score': 14.56}, {'connected_gene': 'ENSG00000272374', 'score': 11.08}, {'connected_gene': 'SPDEF', 'score': 0.77}, {'connected_gene': 'PACSIN1', 'score': 0.17}]
chr6 GH06I034546 34546493 34548286 0.82 [{'connected_gene': 'TAF11', 'score': 15.02}, {'connected_gene': 'RPS10', 'score': 13.07}, {'connected_gene': 'FANCE', 'score': 12.97}, {'connected_gene': 'RPL35P2', 'score': 12.39}, {'connected_gene': 'SPDEF', 'score': 0.44}, {'connected_gene': 'PACSIN1', 'score': 0.18}]
chr6 GH06I034436 34436914 34437101 0.39 [{'connected_gene': 'RPS10', 'score': 9.85}, {'connected_gene': 'ANKS1A', 'score': 1.23}, {'connected_gene': 'RPS10-NUDT3', 'score': 0.39}, {'connected_gene': 'PACSIN1', 'score': 0.31}]
chr6 GH06I034484 34484559 34486766 0.73 [{'connected_gene': 'UHRF1BP1', 'score': 5.09}, {'connected_gene': 'PACSIN1', 'score': 0.37}, {'connected_gene': 'SPDEF', 'score': 0.19}]
chr6 GH06I034468 34468504 34468653 0.66 [{'connected_gene': 'UHRF1BP1', 'score': 5.42}, {'connected_gene': 'PACSIN1', 'score': 0.77}, {'connected_gene': 'SPDEF', 'score': 0.17}]
chr6 GH06I034544 34544666 34545573 1.27 [{'connected_gene': 'UHRF1BP1', 'score': 4.6}, {'connected_gene': 'SPDEF', 'score': 2.16}, {'connected_gene': 'PACSIN1', 'score': 0.18}]
chr6 GH06I034526 34526382 34527975 1.36 [{'connected_gene': 'DEF6', 'score': 4.17}, {'connected_gene': 'SPDEF', 'score': 0.31}, {'connected_gene': 'PACSIN1', 'score': 0.21}]
chr6 GH06I034102 34102433 34104792 0.54 [{'connected_gene': 'PACSIN1', 'score': 5.46}, {'connected_gene': 'UHRF1BP1', 'score': 5.1}, {'connected_gene': 'GRM4', 'score': 0.23}, {'connected_gene': 'PIR53321', 'score': 0.17}]
chr6 GH06I034465 34465800 34466201 1.74 [{'connected_gene': 'PACSIN1', 'score': 550.77}, {'connected_gene': 'UHRF1BP1', 'score': 4.44}, {'connected_gene': 'RPS10-NUDT3', 'score': 0.28}, {'connected_gene': 'RPS10', 'score': 0.28}]
chr6 GH06I034514 34514823 34514882 0.95 [{'connected_gene': 'PACSIN1', 'score': 550.25}, {'connected_gene': 'SPDEF', 'score': 0.26}]
chr6 GH06I034490 34490251 34491544 0.97 [{'connected_gene': 'PACSIN1', 'score': 0.34}, {'connected_gene': 'SPDEF', 'score': 0.2}]
chr6 GH06I034483 34483399 34483458 0.5 [{'connected_gene': 'PACSIN1', 'score': 550.37}, {'connected_gene': 'SPDEF', 'score': 0.19}]
chr6 GH06I034460 34460004 34460133 0.76 [{'connected_gene': 'PACSIN1', 'score': 0.44}, {'connected_gene': 'RPS10-NUDT3', 'score': 0.29}, {'connected_gene': 'RPS10', 'score': 0.29}]
chr6 GH06I034462 34462387 34463075 1.05 [{'connected_gene': 'PACSIN1', 'score': 0.77}, {'connected_gene': 'RPS10-NUDT3', 'score': 0.28}, {'connected_gene': 'RPS10', 'score': 0.28}]
chr6 GH06I034142 34142594 34142939 0.79 [{'connected_gene': 'GRM4', 'score': 25.59}, {'connected_gene': 'IP6K3', 'score': 11.04}, {'connected_gene': 'MLN', 'score': 10.47}, {'connected_gene': 'PACSIN1', 'score': 1.45}, {'connected_gene': 'PIR53321', 'score': 0.13}]
chr6 GH06I034143 34143673 34144016 0.95 [{'connected_gene': 'GRM4', 'score': 52.31}, {'connected_gene': 'MLN', 'score': 10.93}, {'connected_gene': 'LEMD2', 'score': 10.72}, {'connected_gene': 'PACSIN1', 'score': 1.64}, {'connected_gene': 'PIR53321', 'score': 0.13}]
chr6 GH06I034554 34554842 34555140 0.89 [{'connected_gene': 'SPDEF', 'score': 552.5}, {'connected_gene': 'UHRF1BP1', 'score': 4.41}, {'connected_gene': 'PACSIN1', 'score': 0.17}]
chr6 GH06I034555 34555244 34556896 1.44 [{'connected_gene': 'SPDEF', 'score': 550.77}, {'connected_gene': 'UHRF1BP1', 'score': 5.62}, {'connected_gene': 'PACSIN1', 'score': 0.16}]
chr6 GH06I034536 34536744 34536893 0.9 [{'connected_gene': 'SPDEF', 'score': 0.37}, {'connected_gene': 'PACSIN1', 'score': 0.19}]
chr6 GH06I034531 34531377 34532740 0.86 [{'connected_gene': 'SPDEF', 'score': 13.3}, {'connected_gene': 'PACSIN1', 'score': 0.2}]
chr6 GH06I034550 34550705 34551876 0.31 [{'connected_gene': 'SPDEF', 'score': 0.44}, {'connected_gene': 'PACSIN1', 'score': 0.17}]
chr6 GH06I034533 34533909 34535126 0.2 [{'connected_gene': 'SPDEF', 'score': 12.91}, {'connected_gene': 'PACSIN1', 'score': 0.2}]
chr6 GH06I034144 34144462 34144811 0.96 [{'connected_gene': 'LEMD2', 'score': 21.31}, {'connected_gene': 'HCG25', 'score': 15.61}, {'connected_gene': 'PHF1', 'score': 12.92}, {'connected_gene': 'GRM4', 'score': 12.69}, {'connected_gene': 'RXRB', 'score': 10.93}, {'connected_gene': 'MLN', 'score': 10.92}, {'connected_gene': 'VPS52', 'score': 10.4}, {'connected_gene': 'CUTA', 'score': 10.02}, {'connected_gene': 'PACSIN1', 'score': 1.26}, {'connected_gene': 'PIR53321', 'score': 0.13}]