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
ENST00000372070 [[46016214, 46016827], [46018107, 46018235], [46027460, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035721]] [[46027466, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035628]]
ENST00000434299 [[46016475, 46016548], [46016637, 46016827], [46018107, 46018235], [46027460, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033740]] [[46027466, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033740]]
ENST00000496999 [[46016517, 46016827], [46032240, 46032360], [46032540, 46032885]] None
ENST00000476957 [[46016525, 46016827], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034296]] None
ENST00000481885 [[46016738, 46016827], [46027460, 46027550], [46032240, 46032360], [46032540, 46032692], [46033632, 46033697]] [[46027466, 46027550], [46032240, 46032360], [46032540, 46032692], [46033632, 46033697]]
ENST00000351829 [[46016738, 46016827], [46027460, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035721]] [[46027466, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035628]]
ENST00000471651 [[46016739, 46016827], [46027460, 46027550], [46032240, 46032360], [46032540, 46033260]] [[46027466, 46027550], [46032240, 46032360], [46032540, 46032696]]
ENST00000497973 [[46032540, 46032692], [46033653, 46033849], [46034598, 46034671], [46034814, 46034901], [46035562, 46035721]] None
ENST00000473038 [[46033220, 46033849], [46034598, 46034671], [46034814, 46034901], [46035562, 46035721]] None
ENST00000495913 [[46033653, 46033762], [46034605, 46034671], [46034814, 46034901], [46035562, 46035721]] None
ENST00000487654 [[46033818, 46033849], [46034156, 46034356], [46034598, 46034678], [46034814, 46034901], [46035562, 46035716]] None
ENST00000475919 [[46034285, 46034671], [46034814, 46034901], [46035562, 46035719]] None
ENST00000475985 [[46034721, 46034901], [46035562, 46035717]] None
NM_001202413 [[46016454, 46016548], [46016637, 46016827], [46027460, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035723]] [[46027466, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035628]]
NM_001202414 [[46016454, 46016548], [46016637, 46016827], [46018107, 46018235], [46027460, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035723]] [[46027466, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035628]]
NM_153326 [[46016454, 46016827], [46027460, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035723]] [[46027466, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035628]]
NM_006066 [[46016454, 46016827], [46018107, 46018235], [46027460, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035723]] [[46027466, 46027550], [46032240, 46032360], [46032540, 46032692], [46033653, 46033849], [46034156, 46034356], [46034598, 46034671], [46034814, 46034901], [46035562, 46035628]]
Promoter
Chrom Start End Description
chr1 46016465 46016544 CAGE_peak_1_at_AKR1A1_5end
chr1 46016554 46016576 CAGE_peak_4_at_AKR1A1_5end
chr1 46016703 46016755 CAGE_peak_2_at_AKR1A1_5end
chr1 46016762 46016777 CAGE_peak_3_at_AKR1A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I045520 45520000 45523699 2.15 [{'connected_gene': 'PRDX1', 'score': 576.06}, {'connected_gene': 'CCDC163', 'score': 98.48}, {'connected_gene': 'TOE1', 'score': 76.85}, {'connected_gene': 'LRRC41', 'score': 65.93}, {'connected_gene': 'MUTYH', 'score': 54.01}, {'connected_gene': 'GPBP1L1', 'score': 49.18}, {'connected_gene': 'RPS8', 'score': 31.05}, {'connected_gene': 'RPL7AP16', 'score': 26.87}, {'connected_gene': 'NASP', 'score': 21.87}, {'connected_gene': 'ZSWIM5', 'score': 20.79}, {'connected_gene': 'HECTD3', 'score': 19.99}, {'connected_gene': 'PTCH2', 'score': 14.15}, {'connected_gene': 'AKR1A1', 'score': 13.34}, {'connected_gene': 'RPS15AP10', 'score': 12.09}, {'connected_gene': 'NSUN4', 'score': 10.24}, {'connected_gene': 'CCDC17', 'score': 10.19}, {'connected_gene': 'MMACHC', 'score': 4.66}, {'connected_gene': 'PIR60929', 'score': 0.44}]
chr1 GH01I045519 45519005 45519568 0.54 [{'connected_gene': 'PRDX1', 'score': 26.06}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.18}, {'connected_gene': 'GPBP1L1', 'score': 10.14}, {'connected_gene': 'PIR60929', 'score': 0.77}]
chr1 GH01I045856 45856046 45857784 0.49 [{'connected_gene': 'MAST2', 'score': 37.3}, {'connected_gene': 'CCDC163', 'score': 26.94}, {'connected_gene': 'GPBP1L1', 'score': 10.72}, {'connected_gene': 'TMEM69', 'score': 10.72}, {'connected_gene': 'AKR1A1', 'score': 9.88}, {'connected_gene': 'GC01M045859', 'score': 0.77}, {'connected_gene': 'TMA16P2', 'score': 0.44}]
chr1 GH01I045541 45541401 45546300 1.49 [{'connected_gene': 'CCDC163', 'score': 24.28}, {'connected_gene': 'PRDX1', 'score': 22.94}, {'connected_gene': 'IPP', 'score': 8.38}, {'connected_gene': 'AKR1A1', 'score': 7.42}, {'connected_gene': 'MMACHC', 'score': 4.69}, {'connected_gene': 'TESK2', 'score': 4.0}, {'connected_gene': 'GPBP1L1', 'score': 2.06}, {'connected_gene': 'TOE1', 'score': 1.52}, {'connected_gene': 'GC01P045551', 'score': 0.44}, {'connected_gene': 'HMGB1P48', 'score': 0.39}]
chr1 GH01I045557 45557273 45558198 0.71 [{'connected_gene': 'CCDC163', 'score': 54.65}, {'connected_gene': 'PRDX1', 'score': 18.62}, {'connected_gene': 'AKR1A1', 'score': 0.44}, {'connected_gene': 'ENSG00000281133', 'score': 0.34}]
chr1 GH01I045498 45498336 45501625 1.59 [{'connected_gene': 'CCDC163', 'score': 648.91}, {'connected_gene': 'MMACHC', 'score': 555.75}, {'connected_gene': 'PIR33787', 'score': 550.77}, {'connected_gene': 'PRDX1', 'score': 36.85}, {'connected_gene': 'MUTYH', 'score': 33.34}, {'connected_gene': 'LRRC41', 'score': 28.18}, {'connected_gene': 'TOE1', 'score': 20.93}, {'connected_gene': 'NASP', 'score': 13.04}, {'connected_gene': 'GPBP1L1', 'score': 12.03}, {'connected_gene': 'AKR1A1', 'score': 11.88}, {'connected_gene': 'HMGB1P48', 'score': 11.4}, {'connected_gene': 'RPS8', 'score': 10.31}, {'connected_gene': 'HECTD3', 'score': 9.68}]
chr1 GH01I045517 45517045 45517552 0.43 [{'connected_gene': 'CCDC163', 'score': 98.51}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.18}, {'connected_gene': 'GPBP1L1', 'score': 10.13}, {'connected_gene': 'PIR60929', 'score': 0.77}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1 GH01I045550 45550046 45552962 2.09 [{'connected_gene': 'AKR1A1', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 26.95}, {'connected_gene': 'TOE1', 'score': 25.37}, {'connected_gene': 'PRDX1', 'score': 23.12}, {'connected_gene': 'LRRC41', 'score': 21.79}, {'connected_gene': 'CCDC163', 'score': 20.52}, {'connected_gene': 'HECTD3', 'score': 18.29}, {'connected_gene': 'RPL7AP16', 'score': 13.08}, {'connected_gene': 'RPS8', 'score': 10.31}, {'connected_gene': 'GC01P045551', 'score': 0.77}, {'connected_gene': 'ENSG00000281133', 'score': 0.31}]
chr1 GH01I045512 45512669 45512878 0.87 [{'connected_gene': 'AKR1A1', 'score': 12.53}, {'connected_gene': 'PIR60929', 'score': 0.77}, {'connected_gene': 'MMACHC', 'score': 0.39}, {'connected_gene': 'PRDX1', 'score': 0.39}, {'connected_gene': 'CCDC163', 'score': 0.39}]
chr1 GH01I045556 45556829 45556978 0.75 [{'connected_gene': 'AKR1A1', 'score': 0.44}, {'connected_gene': 'ENSG00000281133', 'score': 0.34}]
chr1 GH01I045513 45513169 45514253 0.54 [{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 65.7}, {'connected_gene': 'AKR1A1', 'score': 12.53}, {'connected_gene': 'MMACHC', 'score': 4.82}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1 GH01I045514 45514589 45516738 0.56 [{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 98.51}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.76}, {'connected_gene': 'GPBP1L1', 'score': 10.71}, {'connected_gene': 'MMACHC', 'score': 4.79}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1 GH01I045516 45516849 45516998 0.46 [{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.18}, {'connected_gene': 'GPBP1L1', 'score': 10.13}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1 GH01I045575 45575949 45576098 0.31 [{'connected_gene': 'ENSG00000281133', 'score': 0.77}, {'connected_gene': 'AKR1A1', 'score': 0.31}]
chr1 GH01I045570 45570129 45570338 0.87 [{'connected_gene': 'ENSG00000281133', 'score': 0.39}, {'connected_gene': 'AKR1A1', 'score': 0.37}]

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