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
ENST00000461949 [[153308496, 153311230], [153312319, 153312551], [153313991, 153314109], [153315647, 153315777]] None
ENST00000414771 [[153308496, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316378, 153316454]] [[153311029, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316378, 153316454]]
ENST00000464135 [[153308496, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316270, 153316429], [153319684, 153319764], [153323561, 153323820]] None
ENST00000485512 [[153308496, 153311230], [153313991, 153314109], [153315647, 153315811], [153316270, 153316429], [153319684, 153319764], [153323561, 153323820]] None
ENST00000367231 [[153308496, 153311230], [153313991, 153314109], [153315647, 153315811], [153316270, 153316454], [153319684, 153319764], [153323561, 153323820]] [[153311219, 153311230], [153313991, 153314109], [153315647, 153315811], [153316270, 153316454], [153319684, 153319764], [153323561, 153323820]]
ENST00000367233 [[153308496, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316270, 153316454], [153319684, 153319764], [153323561, 153323820]] [[153311029, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316270, 153316454], [153319684, 153319764], [153323561, 153323820]]
ENST00000367230 [[153308496, 153311230], [153313991, 153314109], [153315647, 153315811], [153316378, 153316454], [153319684, 153319764], [153323561, 153323820]] [[153311219, 153311230], [153313991, 153314109], [153315647, 153315811], [153316378, 153316454], [153319684, 153319764], [153323561, 153323820]]
ENST00000485283 [[153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316397, 153316454], [153319684, 153319877]] None
ENST00000463251 [[153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316397, 153316454], [153319684, 153319764], [153323561, 153323820]] None
ENST00000448966 [[153312362, 153312456], [153313991, 153314109], [153315647, 153315943]] [[153312362, 153312456], [153313991, 153314109], [153315647, 153315926]]
ENST00000482526 [[153319427, 153319764], [153323561, 153323671]] None
NM_019041 [[153308500, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316270, 153316454], [153319684, 153319764], [153323561, 153323950]] [[153311029, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316270, 153316454], [153319684, 153319764], [153323561, 153323820]]
NM_001114184 [[153308500, 153311230], [153313991, 153314109], [153315647, 153315811], [153316270, 153316454], [153319684, 153319764], [153323561, 153323950]] [[153311219, 153311230], [153313991, 153314109], [153315647, 153315811], [153316270, 153316454], [153319684, 153319764], [153323561, 153323820]]
NM_001301870 [[153308500, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316378, 153316454], [153319684, 153319764], [153323561, 153323950]] [[153311029, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316378, 153316454], [153319684, 153319764], [153323561, 153323820]]
NM_001301047 [[153308500, 153311230], [153313991, 153314109], [153315647, 153315811], [153316378, 153316454], [153319684, 153319764], [153323561, 153323950]] [[153311219, 153311230], [153313991, 153314109], [153315647, 153315811], [153316378, 153316454], [153319684, 153319764], [153323561, 153323820]]
NM_001301871 [[153308500, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316270, 153316429], [153319684, 153319764], [153323561, 153323950]] [[153311029, 153311230], [153312319, 153312456], [153313991, 153314109], [153315647, 153315811], [153316270, 153316367]]
NR_126056 [[153308500, 153311230], [153313991, 153314109], [153315647, 153315811], [153316270, 153316429], [153319684, 153319764], [153323561, 153323950]] None
NM_001301872 [[153319427, 153319764], [153323561, 153323950]] [[153319660, 153319764], [153323561, 153323820]]
Promoter
Chrom Start End Description
chr6 153323801 153323874 CAGE_peak_1_at_MTRF1L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I153032 153032366 153032495 0.43 [{'connected_gene': 'MTRF1L', 'score': 12.63}, {'connected_gene': 'PIR48130', 'score': 0.44}, {'connected_gene': 'RGS17', 'score': 0.15}]
chr6 GH06I152975 152975001 152975800 0.77 [{'connected_gene': 'MTRF1L', 'score': 52.36}, {'connected_gene': 'FBXO5', 'score': 0.44}, {'connected_gene': 'ENSG00000227627', 'score': 0.44}, {'connected_gene': 'ENSG00000220745', 'score': 0.37}]
chr6 GH06I152978 152978601 152979000 0.38 [{'connected_gene': 'MTRF1L', 'score': 27.84}, {'connected_gene': 'FBXO5', 'score': 0.77}, {'connected_gene': 'ENSG00000227627', 'score': 0.77}, {'connected_gene': 'ENSG00000220745', 'score': 0.37}]
chr6 GH06I153001 153001207 153004185 2.04 [{'connected_gene': 'MTRF1L', 'score': 600.81}, {'connected_gene': 'GC06P153002', 'score': 550.77}, {'connected_gene': 'PIR33309', 'score': 0.37}, {'connected_gene': 'GC06P152985', 'score': 0.37}]
chr6 GH06I153101 153101541 153101800 0.29 [{'connected_gene': 'RGS17', 'score': 11.03}, {'connected_gene': 'MTRF1L', 'score': 1.99}, {'connected_gene': 'PIR48130', 'score': 0.18}]
chr6 GH06I153089 153089855 153093614 1.22 [{'connected_gene': 'RGS17', 'score': 17.95}, {'connected_gene': 'MTRF1L', 'score': 6.01}, {'connected_gene': 'PIR48130', 'score': 0.2}]
chr6 GH06I152980 152980263 152985920 2.09 [{'connected_gene': 'FBXO5', 'score': 608.13}, {'connected_gene': 'PIR33309', 'score': 550.77}, {'connected_gene': 'ENSG00000227627', 'score': 550.77}, {'connected_gene': 'GC06P152985', 'score': 550.77}, {'connected_gene': 'MTRF1L', 'score': 36.34}, {'connected_gene': 'RPL27AP6', 'score': 10.27}, {'connected_gene': 'ENSG00000220745', 'score': 0.34}]
chr6 GH06I153024 153024526 153024695 0.7 [{'connected_gene': 'PIR48130', 'score': 550.77}, {'connected_gene': 'VIP', 'score': 9.67}, {'connected_gene': 'MTRF1L', 'score': 0.34}, {'connected_gene': 'RGS17', 'score': 0.14}]