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
ENST00000371204 [[60358979, 60359501], [60366636, 60366775], [60370542, 60370730], [60373457, 60373599], [60375455, 60375632], [60377279, 60377440], [60377833, 60377983], [60381609, 60381772], [60392208, 60392462]] [[60359322, 60359501], [60366636, 60366775], [60370542, 60370730], [60373457, 60373599], [60375455, 60375632], [60377279, 60377440], [60377833, 60377983], [60381609, 60381772], [60392208, 60392418]]
ENST00000492633 [[60358987, 60359501], [60366636, 60366775], [60370037, 60370188], [60370542, 60370730], [60373457, 60373599], [60375455, 60375632], [60377279, 60377440], [60377833, 60378910]] None
ENST00000466095 [[60358991, 60359501], [60366636, 60366775], [60373457, 60373599], [60375455, 60375632], [60377279, 60377440], [60377833, 60377983], [60381609, 60381772], [60392208, 60392433]] None
ENST00000469406 [[60358991, 60359501], [60366636, 60366775], [60370037, 60370188], [60370542, 60370730], [60373457, 60373599], [60375455, 60375632], [60377279, 60377440], [60377833, 60377983], [60381609, 60381772], [60392208, 60392433]] None
ENST00000468257 [[60375582, 60375632], [60377279, 60377440], [60377833, 60377983], [60381609, 60381772], [60392192, 60392427]] None
NR_134982 [[60358979, 60359501], [60366636, 60366775], [60370037, 60370188], [60370542, 60370730], [60373457, 60373599], [60375455, 60375632], [60377279, 60377440], [60377833, 60377983], [60381609, 60381772], [60392208, 60392470]] None
NM_000775 [[60358979, 60359501], [60366636, 60366775], [60370542, 60370730], [60373457, 60373599], [60375455, 60375632], [60377279, 60377440], [60377833, 60377983], [60381609, 60381772], [60392208, 60392470]] [[60359322, 60359501], [60366636, 60366775], [60370542, 60370730], [60373457, 60373599], [60375455, 60375632], [60377279, 60377440], [60377833, 60377983], [60381609, 60381772], [60392208, 60392418]]
NR_134981 [[60358979, 60359501], [60366636, 60366775], [60373457, 60373599], [60375455, 60375632], [60377279, 60377440], [60377833, 60377983], [60381609, 60381772], [60392208, 60392470]] None
Promoter
Chrom Start End Description
chr1 60392397 60392451 CAGE_peak_1_at_CYP2J2_5end
chr1 60392452 60392499 CAGE_peak_2_at_CYP2J2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I059541 59541361 59545949 1.11 [{'connected_gene': 'FGGY', 'score': 10.22}, {'connected_gene': 'CYP2J2', 'score': 2.38}, {'connected_gene': 'GC01P059473', 'score': 0.19}, {'connected_gene': 'MIR4711', 'score': 0.09}]
chr1 GH01I059906 59906767 59907951 0.38 [{'connected_gene': 'HOOK1', 'score': 14.45}, {'connected_gene': 'GC01P059903', 'score': 0.77}, {'connected_gene': 'CYP2J2', 'score': 0.37}]
chr1 GH01I059621 59621457 59621475 0.23 [{'connected_gene': 'CYP2J2', 'score': 1.7}, {'connected_gene': 'MIR4711', 'score': 0.14}, {'connected_gene': 'GC01P059473', 'score': 0.11}, {'connected_gene': 'FGGY', 'score': 0.05}]
chr1 GH01I059891 59891590 59894380 0.49 [{'connected_gene': 'CYP2J2', 'score': 12.08}, {'connected_gene': 'GC01M059897', 'score': 0.44}, {'connected_gene': 'GC01P059852', 'score': 0.26}]
chr1 GH01I059920 59920388 59923258 0.54 [{'connected_gene': 'CYP2J2', 'score': 7.01}, {'connected_gene': 'GC01P059903', 'score': 0.37}]
chr1 GH01I059926 59926180 59927398 1.84 [{'connected_gene': 'CYP2J2', 'score': 556.32}, {'connected_gene': 'GC01P059903', 'score': 0.34}]
chr1 GH01I059966 59966786 59967838 0.99 [{'connected_gene': 'C1orf87', 'score': 10.18}, {'connected_gene': 'CYP2J2', 'score': 5.27}, {'connected_gene': 'HOOK1', 'score': 4.53}, {'connected_gene': 'RN7SL475P', 'score': 0.44}, {'connected_gene': 'GC01M059975', 'score': 0.44}]
chr1 GH01I059971 59971266 59973546 0.92 [{'connected_gene': 'RN7SL475P', 'score': 0.77}, {'connected_gene': 'GC01M059975', 'score': 0.77}, {'connected_gene': 'CYP2J2', 'score': 0.25}]