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
ENST00000368281 [[127761487, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127772361]] None
ENST00000465254 [[127762192, 127765427], [127768016, 127768230]] [[127765374, 127765427], [127768016, 127768230]]
ENST00000483725 [[127764391, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775246], [127780319, 127780536]] [[127765253, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775126]]
ENST00000487331 [[127768742, 127768885], [127770966, 127771046], [127771134, 127771497], [127772426, 127772462], [127774991, 127775246], [127780319, 127780510]] [[127768742, 127768885], [127770966, 127771046], [127771134, 127771497], [127772426, 127772462], [127774991, 127775126]]
ENST00000472335 [[127771190, 127771497], [127774991, 127775387]] None
NM_014702 [[127759550, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775246], [127780319, 127780535]] [[127765253, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775126]]
Promoter
Chrom Start End Description
chr6 127780484 127780494 CAGE_peak_4_at_KIAA0408_5end
chr6 127780511 127780539 CAGE_peak_1_at_KIAA0408_5end
chr6 127780566 127780578 CAGE_peak_2_at_KIAA0408_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I127456 127456056 127460203 1.64 [{'connected_gene': 'KIAA0408', 'score': 559.97}, {'connected_gene': 'ECHDC1', 'score': 12.96}, {'connected_gene': 'GC06P127437', 'score': 0.34}, {'connected_gene': 'ENSG00000255330', 'score': 0.21}, {'connected_gene': 'SOGA3', 'score': 0.21}]
chr6 GH06I127346 127346801 127347766 1.09 [{'connected_gene': 'KIAA0408', 'score': 9.96}, {'connected_gene': 'ECHDC1', 'score': 5.95}, {'connected_gene': 'YWHAZP4', 'score': 0.44}]
chr6 GH06I127514 127514401 127517200 1.13 [{'connected_gene': 'KIAA0408', 'score': 22.26}, {'connected_gene': 'ENSG00000255330', 'score': 0.77}, {'connected_gene': 'SOGA3', 'score': 0.77}, {'connected_gene': 'PIR32248', 'score': 0.28}]
chr6 GH06I127582 127582876 127583025 0.59 [{'connected_gene': 'KIAA0408', 'score': 10.33}, {'connected_gene': 'LOC105377995', 'score': 0.31}, {'connected_gene': 'C6orf58', 'score': 0.21}]
chr6 GH06I127301 127301245 127301405 0.2 [{'connected_gene': 'KIAA0408', 'score': 10.59}, {'connected_gene': 'LOC105377994', 'score': 0.77}, {'connected_gene': 'RNA5SP217', 'score': 0.37}, {'connected_gene': 'ECHDC1', 'score': 0.26}]
chr6 GH06I127637 127637804 127638137 0.22 [{'connected_gene': 'KIAA0408', 'score': 10.23}, {'connected_gene': 'LOC100420743', 'score': 0.77}, {'connected_gene': 'ENSG00000218187', 'score': 0.37}]
chr6 GH06I127398 127397216 127397365 0.2 [{'connected_gene': 'KIAA0408', 'score': 10.55}, {'connected_gene': 'LOC100287856', 'score': 0.37}, {'connected_gene': 'GC06P127375', 'score': 0.34}]
chr6 GH06I127399 127397396 127397565 0.31 [{'connected_gene': 'KIAA0408', 'score': 10.55}, {'connected_gene': 'LOC100287856', 'score': 0.37}, {'connected_gene': 'GC06P127375', 'score': 0.34}]
chr6 GH06I127271 127271069 127273472 0.31 [{'connected_gene': 'ECHDC1', 'score': 15.59}, {'connected_gene': 'KIAA0408', 'score': 10.12}, {'connected_gene': 'RNF146', 'score': 0.44}, {'connected_gene': 'LOC105377994', 'score': 0.34}]
chr6 GH06I127419 127419958 127421504 1.32 [{'connected_gene': 'ECHDC1', 'score': 24.57}, {'connected_gene': 'KIAA0408', 'score': 11.75}, {'connected_gene': 'RNF146', 'score': 2.42}, {'connected_gene': 'LOC100287856', 'score': 0.77}, {'connected_gene': 'RPL17P23', 'score': 0.39}]
chr6 GH06I127397 127397576 127398482 0.84 [{'connected_gene': 'ECHDC1', 'score': 14.1}, {'connected_gene': 'KIAA0408', 'score': 10.55}, {'connected_gene': 'RNF146', 'score': 1.99}, {'connected_gene': 'LOC100287856', 'score': 0.37}, {'connected_gene': 'GC06P127375', 'score': 0.34}]
chr6 GH06I127463 127463049 127465668 1.07 [{'connected_gene': 'ECHDC1', 'score': 8.77}, {'connected_gene': 'KIAA0408', 'score': 0.77}, {'connected_gene': 'GC06P127475', 'score': 0.39}, {'connected_gene': 'ENSG00000255330', 'score': 0.23}, {'connected_gene': 'SOGA3', 'score': 0.23}]
chr6 GH06I127340 127340402 127345054 2.5 [{'connected_gene': 'ECHDC1', 'score': 567.37}, {'connected_gene': 'GC06P127344', 'score': 550.77}, {'connected_gene': 'KIAA0408', 'score': 10.81}, {'connected_gene': 'C6orf58', 'score': 6.49}, {'connected_gene': 'RNA5SP217', 'score': 0.34}, {'connected_gene': 'LOC105377994', 'score': 0.25}]
chr6 GH06I127352 127352055 127353907 0.31 [{'connected_gene': 'ECHDC1', 'score': 14.86}, {'connected_gene': 'KIAA0408', 'score': 11.1}, {'connected_gene': 'YWHAZP4', 'score': 0.77}]
chr6 GH06I127345 127345801 127346000 0.66 [{'connected_gene': 'ECHDC1', 'score': 564.95}, {'connected_gene': 'KIAA0408', 'score': 9.96}, {'connected_gene': 'YWHAZP4', 'score': 0.44}]
chr6 GH06I127299 127299621 127301165 0.86 [{'connected_gene': 'ECHDC1', 'score': 14.22}, {'connected_gene': 'KIAA0408', 'score': 10.59}, {'connected_gene': 'LOC105377994', 'score': 0.77}, {'connected_gene': 'RNA5SP217', 'score': 0.37}]
chr6 GH06I127336 127336102 127337173 0.31 [{'connected_gene': 'ECHDC1', 'score': 14.64}, {'connected_gene': 'KIAA0408', 'score': 9.71}, {'connected_gene': 'GC06P127344', 'score': 0.44}, {'connected_gene': 'RNA5SP217', 'score': 0.37}, {'connected_gene': 'LOC105377994', 'score': 0.28}]
chr6 GH06I127331 127331717 127334600 1.04 [{'connected_gene': 'ECHDC1', 'score': 15.9}, {'connected_gene': 'KIAA0408', 'score': 10.03}, {'connected_gene': 'GC06P127344', 'score': 0.39}, {'connected_gene': 'RNA5SP217', 'score': 0.37}, {'connected_gene': 'LOC105377994', 'score': 0.28}]
chr6 GH06I127390 127390050 127392701 0.2 [{'connected_gene': 'ECHDC1', 'score': 16.6}, {'connected_gene': 'KIAA0408', 'score': 10.82}, {'connected_gene': 'GC06P127375', 'score': 0.37}, {'connected_gene': 'LOC100287856', 'score': 0.31}]
chr6 GH06I127365 127365473 127367955 1.22 [{'connected_gene': 'ECHDC1', 'score': 14.77}, {'connected_gene': 'YWHAZP4', 'score': 10.69}, {'connected_gene': 'KIAA0408', 'score': 10.42}, {'connected_gene': 'RPL5P18', 'score': 0.77}, {'connected_gene': 'GC06P127373', 'score': 0.44}]
chr6 GH06I127518 127518336 127519800 1.84 [{'connected_gene': 'SOGA3', 'score': 556.28}, {'connected_gene': 'ENSG00000255330', 'score': 550.77}, {'connected_gene': 'C6orf58', 'score': 550.77}, {'connected_gene': 'KIAA0408', 'score': 20.91}]
chr6 GH06I127481 127481314 127485314 1.24 [{'connected_gene': 'C6orf58', 'score': 20.44}, {'connected_gene': 'KIAA0408', 'score': 12.68}, {'connected_gene': 'ENSG00000255330', 'score': 11.69}, {'connected_gene': 'SOGA3', 'score': 11.69}, {'connected_gene': 'ECHDC1', 'score': 8.54}, {'connected_gene': 'PIR32248', 'score': 0.77}]
chr6 GH06I127317 127317001 127318000 0.69 [{'connected_gene': 'RNA5SP217', 'score': 550.77}, {'connected_gene': 'ECHDC1', 'score': 15.82}, {'connected_gene': 'KIAA0408', 'score': 9.52}, {'connected_gene': 'LOC105377994', 'score': 0.34}]
chr6 GH06I127446 127446456 127446605 0.43 [{'connected_gene': 'GC06P127437', 'score': 0.39}, {'connected_gene': 'KIAA0408', 'score': 0.39}, {'connected_gene': 'ENSG00000255330', 'score': 0.19}, {'connected_gene': 'SOGA3', 'score': 0.19}]