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
ENST00000343150 [[90340433, 90341313], [90342508, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346307]] [[90342518, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346022]]
ENST00000340342 [[90341023, 90341168], [90342508, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346301]] [[90342518, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346022]]
ENST00000375894 [[90341028, 90341168], [90342948, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90345988]] None
ENST00000495822 [[90341048, 90341168], [90342508, 90342617], [90343632, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346308]] None
ENST00000342020 [[90341054, 90341168], [90342508, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343912]] [[90342518, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343781]]
ENST00000482054 [[90341054, 90341223], [90342508, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344595]] None
NM_001257972 [[90340973, 90341164], [90342508, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346384]] [[90342518, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346022]]
NM_001257973 [[90340973, 90341168], [90342508, 90342617], [90343632, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346384]] [[90343649, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346022]]
NM_145918 [[90340973, 90341168], [90342508, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346384]] [[90342518, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346022]]
NM_001257971 [[90340973, 90341223], [90342508, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346384]] [[90342518, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346022]]
NM_001912 [[90340973, 90341313], [90342508, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346384]] [[90342518, 90342644], [90342941, 90343064], [90343164, 90343311], [90343499, 90343724], [90344487, 90344650], [90345295, 90345413], [90345922, 90346022]]
Promoter
Chrom Start End Description
chr9 90341025 90341041 CAGE_peak_1_at_CTSL1_5end
chr9 90341260 90341289 CAGE_peak_5_at_CTSL1_5end
chr9 90342509 90342530 CAGE_peak_3_at_CTSL1_5end
chr9 90342545 90342564 CAGE_peak_2_at_CTSL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I087554 87554026 87557399 1.34 [{'connected_gene': 'DAPK1', 'score': 27.05}, {'connected_gene': 'CTSL', 'score': 4.03}, {'connected_gene': 'DAPK1-IT1', 'score': 0.77}, {'connected_gene': 'GC09P087601', 'score': 0.25}]
chr9 GH09I087564 87564727 87565549 0.85 [{'connected_gene': 'DAPK1', 'score': 21.67}, {'connected_gene': 'CTSL', 'score': 3.07}, {'connected_gene': 'DAPK1-IT1', 'score': 0.39}, {'connected_gene': 'GC09P087601', 'score': 0.28}]
chr9 GH09I087592 87592091 87602399 1.66 [{'connected_gene': 'DAPK1', 'score': 14.98}, {'connected_gene': 'CTSL', 'score': 1.93}, {'connected_gene': 'GC09P087601', 'score': 0.77}, {'connected_gene': 'DAPK1-IT1', 'score': 0.26}]
chr9 GH09I087404 87404759 87411300 1.58 [{'connected_gene': 'DAPK1', 'score': 13.2}, {'connected_gene': 'CTSL', 'score': 5.03}, {'connected_gene': 'GC09P087394', 'score': 0.39}, {'connected_gene': 'ENSG00000228373', 'score': 0.37}]
chr9 GH09I087611 87611337 87615212 1.55 [{'connected_gene': 'DAPK1', 'score': 17.46}, {'connected_gene': 'CTSL', 'score': 4.94}, {'connected_gene': 'GC09P087601', 'score': 0.39}, {'connected_gene': 'GC09P087714', 'score': 0.15}]
chr9 GH09I087604 87603761 87608354 1.3 [{'connected_gene': 'DAPK1', 'score': 13.45}, {'connected_gene': 'CTSL', 'score': 2.64}, {'connected_gene': 'GC09P087601', 'score': 0.77}, {'connected_gene': 'GC09P087714', 'score': 0.14}]
chr9 GH09I087479 87479566 87480633 1.34 [{'connected_gene': 'DAPK1', 'score': 7.5}, {'connected_gene': 'CTSL', 'score': 2.36}, {'connected_gene': 'GC09M087454', 'score': 0.39}]
chr9 GH09I087494 87494530 87496195 1.03 [{'connected_gene': 'DAPK1', 'score': 563.55}, {'connected_gene': 'CTSL', 'score': 3.44}, {'connected_gene': 'GC09M087454', 'score': 0.31}]
chr9 GH09I087810 87810719 87811037 1.17 [{'connected_gene': 'CTSL', 'score': 1.79}, {'connected_gene': 'ELF2P3', 'score': 0.44}, {'connected_gene': 'LOC100420576', 'score': 0.39}, {'connected_gene': 'FBP2P1', 'score': 0.31}, {'connected_gene': 'CTSL3P', 'score': 0.28}]
chr9 GH09I087787 87787832 87788077 0.53 [{'connected_gene': 'CTSL', 'score': 17.83}, {'connected_gene': 'DAPK1', 'score': 1.79}, {'connected_gene': 'CTSL3P', 'score': 0.37}, {'connected_gene': 'ELF2P3', 'score': 0.31}]
chr9 GH09I087791 87791654 87794439 1.52 [{'connected_gene': 'CTSL', 'score': 15.77}, {'connected_gene': 'ENSG00000214888', 'score': 4.79}, {'connected_gene': 'DAPK1', 'score': 3.43}, {'connected_gene': 'ELF2P3', 'score': 0.34}, {'connected_gene': 'CTSL3P', 'score': 0.34}]
chr9 GH09I087795 87795801 87796868 1.1 [{'connected_gene': 'CTSL', 'score': 15.82}, {'connected_gene': 'ENSG00000214888', 'score': 5.15}, {'connected_gene': 'DAPK1', 'score': 2.29}, {'connected_gene': 'ELF2P3', 'score': 0.34}, {'connected_gene': 'CTSL3P', 'score': 0.34}]
chr9 GH09I087812 87812546 87813200 0.99 [{'connected_gene': 'CTSL', 'score': 17.52}, {'connected_gene': 'DAPK1', 'score': 1.62}, {'connected_gene': 'ELF2P3', 'score': 0.77}, {'connected_gene': 'LOC100420576', 'score': 0.44}, {'connected_gene': 'FBP2P1', 'score': 0.34}, {'connected_gene': 'CTSL3P', 'score': 0.26}]
chr9 GH09I087701 87701466 87704922 0.62 [{'connected_gene': 'CTSL', 'score': 18.26}, {'connected_gene': 'GC09P087714', 'score': 0.39}, {'connected_gene': 'GC09P087601', 'score': 0.15}, {'connected_gene': 'DAPK1', 'score': 0.08}]
chr9 GH09I087685 87685211 87686669 1.03 [{'connected_gene': 'CTSL', 'score': 18.04}, {'connected_gene': 'GC09P087714', 'score': 0.31}, {'connected_gene': 'GC09P087601', 'score': 0.18}, {'connected_gene': 'DAPK1', 'score': 0.09}]
chr9 GH09I087722 87722195 87722941 0.5 [{'connected_gene': 'CTSL', 'score': 24.16}, {'connected_gene': 'DAPK1', 'score': 3.29}, {'connected_gene': 'GC09P087714', 'score': 0.44}]
chr9 GH09I087725 87725218 87728478 2.19 [{'connected_gene': 'CTSL', 'score': 560.35}, {'connected_gene': 'NXNL2', 'score': 5.21}, {'connected_gene': 'LOC649166', 'score': 0.39}, {'connected_gene': 'GC09P087714', 'score': 0.39}]
chr9 GH09I087709 87709126 87709275 0.38 [{'connected_gene': 'CTSL', 'score': 5.44}, {'connected_gene': 'GC09P087714', 'score': 0.44}, {'connected_gene': 'GC09P087601', 'score': 0.14}]
chr9 GH09I087710 87709642 87717577 1.81 [{'connected_gene': 'GC09P087714', 'score': 550.77}, {'connected_gene': 'CTSL', 'score': 30.71}, {'connected_gene': 'LOC649166', 'score': 11.86}, {'connected_gene': 'NXNL2', 'score': 4.39}, {'connected_gene': 'DAPK1', 'score': 3.73}, {'connected_gene': 'GC09P087601', 'score': 0.14}]