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
ENST00000367889 [[165600097, 165600530], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624857]] [[165619084, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624741]]
ENST00000367888 [[165600449, 165600530], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165630665, 165631033]] [[165619084, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165630665, 165630733]]
ENST00000461308 [[165600462, 165600530], [165619077, 165620011]] None
ENST00000460632 [[165600473, 165600530], [165606011, 165606386]] None
ENST00000495447 [[165600475, 165600530], [165618991, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624854]] None
ENST00000367885 [[165600476, 165600530], [165601467, 165601511], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624857]] [[165601476, 165601511], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624741]]
ENST00000367884 [[165600491, 165600529], [165604963, 165605059], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624857]] [[165619084, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624741]]
ENST00000488688 [[165600494, 165600530], [165619077, 165619201], [165620250, 165620831]] None
ENST00000367883 [[165601299, 165601379], [165601467, 165601511], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624857]] [[165601476, 165601511], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624741]]
ENST00000367886 [[165601476, 165601511], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624853]] [[165601476, 165601511], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624741]]
ENST00000461759 [[165614897, 165617132], [165617686, 165617907]] None
ENST00000609263 [[165618028, 165621129]] None
ENST00000477450 [[165619074, 165619201], [165620250, 165620324], [165621214, 165621272], [165622933, 165623038]] None
ENST00000494074 [[165623069, 165623588], [165624604, 165624857]] None
NM_004528 [[165600109, 165600530], [165619077, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165625373]] [[165619084, 165619201], [165620250, 165620324], [165621214, 165621272], [165623515, 165623588], [165624604, 165624741]]
Promoter
Chrom Start End Description
chr1 165600083 165600134 CAGE_peak_2_at_MGST3_5end
chr1 165600436 165600508 CAGE_peak_1_at_MGST3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I165398 165398084 165398233 0.38 [{'connected_gene': 'RXRG', 'score': 10.75}, {'connected_gene': 'MGST3', 'score': 10.4}, {'connected_gene': 'LMX1A', 'score': 0.26}, {'connected_gene': 'GC01M165392', 'score': 0.26}]
chr1 GH01I165538 165538770 165540314 0.72 [{'connected_gene': 'LRRC52', 'score': 10.84}, {'connected_gene': 'RXRG', 'score': 10.4}, {'connected_gene': 'MGST3', 'score': 5.76}, {'connected_gene': 'LOC105371565', 'score': 0.77}, {'connected_gene': 'LOC400794', 'score': 0.26}]
chr1 GH01I165593 165593044 165593213 0.65 [{'connected_gene': 'MGST3', 'score': 11.06}, {'connected_gene': 'RXRG', 'score': 10.17}, {'connected_gene': 'LMX1A', 'score': 10.01}, {'connected_gene': 'TRK-CTT13-1', 'score': 0.77}, {'connected_gene': 'LOC400794', 'score': 0.39}]
chr1 GH01I165601 165601764 165602001 0.93 [{'connected_gene': 'MGST3', 'score': 17.49}, {'connected_gene': 'RXRG', 'score': 9.73}, {'connected_gene': 'ENSG00000236206', 'score': 0.77}]
chr1 GH01I165392 165392938 165393773 1.15 [{'connected_gene': 'MGST3', 'score': 11.39}, {'connected_gene': 'LMX1A', 'score': 0.28}, {'connected_gene': 'GC01M165392', 'score': 0.25}]
chr1 GH01I165629 165629812 165634437 2.3 [{'connected_gene': 'MGST3', 'score': 593.92}, {'connected_gene': 'LOC284685', 'score': 50.62}, {'connected_gene': 'LRRC52', 'score': 11.84}, {'connected_gene': 'ALDH9A1', 'score': 5.89}, {'connected_gene': 'GC01M165662', 'score': 0.29}, {'connected_gene': 'ENSG00000206990', 'score': 0.29}]
chr1 GH01I165634 165634602 165635400 0.69 [{'connected_gene': 'MGST3', 'score': 7.92}, {'connected_gene': 'ALDH9A1', 'score': 6.12}, {'connected_gene': 'GC01M165662', 'score': 0.31}, {'connected_gene': 'ENSG00000206990', 'score': 0.31}]
chr1 GH01I165705 165705537 165705846 0.26 [{'connected_gene': 'MGST3', 'score': 11.88}, {'connected_gene': 'LOC105371581', 'score': 0.77}, {'connected_gene': 'LOC440700', 'score': 0.44}, {'connected_gene': 'ALDH9A1', 'score': 0.44}]
chr1 GH01I165644 165644780 165647931 0.98 [{'connected_gene': 'MGST3', 'score': 21.02}, {'connected_gene': 'GC01M165662', 'score': 0.37}, {'connected_gene': 'ENSG00000206990', 'score': 0.37}]
chr1 GH01I165636 165636209 165638664 1.05 [{'connected_gene': 'MGST3', 'score': 21.8}, {'connected_gene': 'GC01M165662', 'score': 0.31}, {'connected_gene': 'ENSG00000206990', 'score': 0.31}]
chr1 GH01I165695 165695564 165699265 2.05 [{'connected_gene': 'ALDH9A1', 'score': 582.54}, {'connected_gene': 'LOC440700', 'score': 550.77}, {'connected_gene': 'LOC284685', 'score': 23.64}, {'connected_gene': 'MGST3', 'score': 11.86}, {'connected_gene': 'UCK2', 'score': 9.99}, {'connected_gene': 'GC01M165672', 'score': 0.37}]
chr1 GH01I165685 165685725 165687566 0.6 [{'connected_gene': 'ALDH9A1', 'score': 19.88}, {'connected_gene': 'MGST3', 'score': 11.38}, {'connected_gene': 'GC01M165672', 'score': 0.44}, {'connected_gene': 'LOC440700', 'score': 0.39}]
chr1 GH01I165594 165594740 165595902 0.31 [{'connected_gene': 'TRK-CTT13-1', 'score': 550.77}, {'connected_gene': 'MGST3', 'score': 19.35}, {'connected_gene': 'LOC400794', 'score': 0.39}]
chr1 GH01I165670 165670801 165672026 0.2 [{'connected_gene': 'RPS13P1', 'score': 550.77}, {'connected_gene': 'MGST3', 'score': 16.07}, {'connected_gene': 'RPL21P27', 'score': 0.77}, {'connected_gene': 'ALDH9A1', 'score': 0.31}]
chr1 GH01I165597 165597450 165599412 1.51 [{'connected_gene': 'ENSG00000236206', 'score': 562.09}, {'connected_gene': 'TRK-CTT13-1', 'score': 550.77}, {'connected_gene': 'LOC284685', 'score': 17.9}, {'connected_gene': 'LRRC52', 'score': 8.49}, {'connected_gene': 'MGST3', 'score': 7.05}]