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
ENST00000481848 [[127759550, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775246], [127794224, 127794536], [127796437, 127797613], [127804057, 127804129], [127834035, 127834194], [127835967, 127836192], [127836658, 127837847], [127839723, 127840146]] [[127794425, 127794536], [127796437, 127797613], [127804057, 127804129], [127834035, 127834194], [127835967, 127836192], [127836658, 127837759]]
ENST00000473298 [[127765183, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775246], [127794224, 127794536], [127796446, 127797209]] [[127794425, 127794536], [127796446, 127797209]]
ENST00000464495 [[127771331, 127771497], [127774991, 127775232], [127794224, 127794536], [127796437, 127796618]] [[127794425, 127794536], [127796437, 127796618]]
ENST00000474293 [[127775014, 127775246], [127794224, 127794362], [127796437, 127796839]] None
NM_001012279 [[127759550, 127765427], [127767552, 127768885], [127770966, 127771046], [127771134, 127771497], [127774991, 127775246], [127794224, 127794536], [127796437, 127797613], [127804057, 127804129], [127834035, 127834194], [127835967, 127836192], [127836658, 127837847], [127839723, 127840500]] [[127794425, 127794536], [127796437, 127797613], [127804057, 127804129], [127834035, 127834194], [127835967, 127836192], [127836658, 127837759]]
Promoter
Chrom Start End Description
chr6 127834099 127834103 CAGE_peak_24_at_C6orf174_5end
chr6 127837142 127837208 CAGE_peak_1_at_C6orf174_5end
chr6 127837631 127837647 CAGE_peak_6_at_C6orf174_5end
chr6 127837657 127837669 CAGE_peak_10_at_C6orf174_5end
chr6 127837672 127837701 CAGE_peak_2_at_C6orf174_5end
chr6 127837739 127837748 CAGE_peak_18_at_C6orf174_5end
chr6 127839912 127839939 CAGE_peak_13_at_C6orf174_5end
chr6 127840021 127840047 CAGE_peak_4_at_C6orf174_5end
chr6 127840048 127840074 CAGE_peak_5_at_C6orf174_5end
chr6 127840089 127840099 CAGE_peak_16_at_C6orf174_5end
chr6 127840441 127840452 CAGE_peak_17_at_C6orf174_5end
chr6 127840453 127840507 CAGE_peak_3_at_C6orf174_5end
chr6 127840520 127840528 CAGE_peak_26_at_C6orf174_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 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 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 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 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}]