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
ENST00000262646 [[61429415, 61429812], [61471410, 61471482], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61536186]] [[61429766, 61429812], [61471410, 61471482], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61533328]]
ENST00000531289 [[61429494, 61429812], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61533547]] [[61429766, 61429812], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61533328]]
ENST00000529579 [[61429739, 61429812], [61471410, 61471482], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61531138, 61531207], [61533232, 61533454]] [[61429766, 61429812], [61471410, 61471482], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61531138, 61531207], [61533232, 61533347]]
ENST00000466595 [[61429782, 61429812], [61471410, 61471482], [61484604, 61484672], [61488792, 61488856], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61533507]] [[61429782, 61429812], [61471410, 61471482], [61484604, 61484672], [61488792, 61488856], [61496766, 61496849], [61497281, 61497371]]
ENST00000429861 [[61429794, 61429812], [61471410, 61471482], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504676]] None
ENST00000531098 [[61470966, 61471482], [61484604, 61484654]] [[61484624, 61484654]]
ENST00000534260 [[61471410, 61471482], [61482513, 61482616], [61484604, 61484672], [61496766, 61496849], [61497281, 61497365]] [[61471410, 61471482], [61482513, 61482616], [61484604, 61484638]]
ENST00000481569 [[61429734, 61429812], [61471410, 61471838]] None
ENST00000525529 [[61482487, 61482616], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504496]] None
ENST00000530071 [[61496602, 61496636], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61533500]] None
ENST00000452437 [[61497281, 61497374], [61504416, 61504528], [61531138, 61531670]] [[61497281, 61497374], [61504416, 61504528], [61531138, 61531246]]
ENST00000396696 [[61504248, 61504528], [61531138, 61531207], [61533232, 61533497]] None
NM_001242644 [[61429468, 61429812], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61536203]] [[61429766, 61429812], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61533328]]
NM_002865 [[61429468, 61429812], [61471410, 61471482], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61536203]] [[61429766, 61429812], [61471410, 61471482], [61484604, 61484672], [61496766, 61496849], [61497281, 61497374], [61504416, 61504528], [61531138, 61531207], [61533232, 61533328]]
Promoter
Chrom Start End Description
chr8 61429487 61429502 CAGE_peak_3_at_RAB2A_5end
chr8 61429506 61429558 CAGE_peak_1_at_RAB2A_5end
chr8 61429565 61429579 CAGE_peak_4_at_RAB2A_5end
chr8 61429611 61429631 CAGE_peak_5_at_RAB2A_5end
chr8 61429728 61429755 CAGE_peak_2_at_RAB2A_5end
chr8 61496517 61496522 CAGE_peak_30_at_RAB2A_5end
chr8 61533987 61534024 CAGE_peak_10_at_RAB2A_5end
chr8 61534081 61534096 CAGE_peak_7_at_RAB2A_5end
chr8 61534137 61534171 CAGE_peak_8_at_RAB2A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I060902 60902365 60904979 1.55 [{'connected_gene': 'RAB2A', 'score': 4.84}, {'connected_gene': 'CHD7', 'score': 1.31}, {'connected_gene': 'LOC442389', 'score': 0.77}, {'connected_gene': 'GC08P060868', 'score': 0.28}]
chr8 GH08I060597 60597541 60599528 0.43 [{'connected_gene': 'RAB2A', 'score': 27.03}, {'connected_gene': 'ENSG00000255321', 'score': 11.56}, {'connected_gene': 'CHD7', 'score': 9.87}, {'connected_gene': 'GC08P060601', 'score': 0.77}, {'connected_gene': 'GC08M060522', 'score': 0.34}]
chr8 GH08I060684 60684001 60684600 0.89 [{'connected_gene': 'RAB2A', 'score': 4.93}, {'connected_gene': 'CHD7', 'score': 0.44}, {'connected_gene': 'ENSG00000254432', 'score': 0.13}]
chr8 GH08I060885 60885201 60885600 0.38 [{'connected_gene': 'RAB2A', 'score': 4.6}, {'connected_gene': 'GC08P060868', 'score': 0.37}, {'connected_gene': 'LOC442389', 'score': 0.34}]
chr8 GH08I060591 60591189 60594052 0.31 [{'connected_gene': 'RAB2A', 'score': 27.14}, {'connected_gene': 'ENSG00000255321', 'score': 11.59}, {'connected_gene': 'CLVS1', 'score': 9.94}, {'connected_gene': 'CHD7', 'score': 9.86}, {'connected_gene': 'GC08P060601', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.37}]
chr8 GH08I061468 61468800 61469031 0.94 [{'connected_gene': 'RAB2A', 'score': 4.57}, {'connected_gene': 'GC08P061480', 'score': 0.39}, {'connected_gene': 'LOC105375870', 'score': 0.17}, {'connected_gene': 'CLVS1', 'score': 0.03}]
chr8 GH08I061453 61453581 61454631 0.52 [{'connected_gene': 'RAB2A', 'score': 5.03}, {'connected_gene': 'GC08P061480', 'score': 0.31}, {'connected_gene': 'LOC105375870', 'score': 0.19}, {'connected_gene': 'GC08P061353', 'score': 0.15}, {'connected_gene': 'CLVS1', 'score': 0.04}]
chr8 GH08I060412 60412500 60413200 0.89 [{'connected_gene': 'RAB2A', 'score': 18.63}, {'connected_gene': 'GC08M060401', 'score': 0.77}, {'connected_gene': 'GC08M060388', 'score': 0.34}, {'connected_gene': 'LINC01301', 'score': 0.15}]
chr8 GH08I060454 60454734 60456451 0.43 [{'connected_gene': 'RAB2A', 'score': 11.82}, {'connected_gene': 'GC08M060469', 'score': 0.39}, {'connected_gene': 'GC08M060401', 'score': 0.28}, {'connected_gene': 'LINC01301', 'score': 0.21}]
chr8 GH08I060515 60515571 60519558 2.21 [{'connected_gene': 'RAB2A', 'score': 577.65}, {'connected_gene': 'PIR33286', 'score': 550.77}, {'connected_gene': 'LINC01301', 'score': 550.77}, {'connected_gene': 'ENSG00000255321', 'score': 11.59}]
chr8 GH08I060604 60604258 60605782 0.54 [{'connected_gene': 'RAB2A', 'score': 26.9}, {'connected_gene': 'ENSG00000255321', 'score': 11.58}, {'connected_gene': 'GC08P060601', 'score': 0.77}, {'connected_gene': 'ENSG00000228862', 'score': 0.29}]
chr8 GH08I060520 60520801 60522000 0.71 [{'connected_gene': 'RAB2A', 'score': 21.01}, {'connected_gene': 'ENSG00000255321', 'score': 11.6}, {'connected_gene': 'PIR33286', 'score': 0.77}]
chr8 GH08I060609 60609556 60611277 0.69 [{'connected_gene': 'RAB2A', 'score': 26.89}, {'connected_gene': 'GC08P060601', 'score': 0.44}, {'connected_gene': 'ENSG00000228862', 'score': 0.31}]
chr8 GH08I060557 60557762 60558490 0.51 [{'connected_gene': 'RAB2A', 'score': 5.46}, {'connected_gene': 'ENSG00000255321', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.37}]
chr8 GH08I060525 60524736 60525884 0.99 [{'connected_gene': 'RAB2A', 'score': 27.24}, {'connected_gene': 'ENSG00000255321', 'score': 13.27}, {'connected_gene': 'PIR33286', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.23}]
chr8 GH08I060558 60558498 60559383 0.69 [{'connected_gene': 'RAB2A', 'score': 27.1}, {'connected_gene': 'ENSG00000255321', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.37}]
chr8 GH08I060524 60524201 60524400 0.72 [{'connected_gene': 'RAB2A', 'score': 27.2}, {'connected_gene': 'ENSG00000255321', 'score': 11.97}, {'connected_gene': 'PIR33286', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.23}]
chr8 GH08I060537 60537963 60539612 0.31 [{'connected_gene': 'RAB2A', 'score': 27.2}, {'connected_gene': 'ENSG00000255321', 'score': 0.39}, {'connected_gene': 'PIR33286', 'score': 0.34}, {'connected_gene': 'GC08M060522', 'score': 0.28}]
chr8 GH08I060569 60569438 60571570 0.38 [{'connected_gene': 'RAB2A', 'score': 6.32}, {'connected_gene': 'GC08M060522', 'score': 0.77}, {'connected_gene': 'ENSG00000255321', 'score': 0.37}]
chr8 GH08I060549 60549576 60551828 0.2 [{'connected_gene': 'RAB2A', 'score': 27.11}, {'connected_gene': 'ENSG00000255321', 'score': 0.77}, {'connected_gene': 'GC08M060522', 'score': 0.34}, {'connected_gene': 'PIR33286', 'score': 0.29}]
chr8 GH08I060560 60560232 60562703 0.38 [{'connected_gene': 'RAB2A', 'score': 20.52}, {'connected_gene': 'ENSG00000255321', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.39}]
chr8 GH08I060563 60563166 60565012 0.2 [{'connected_gene': 'RAB2A', 'score': 27.1}, {'connected_gene': 'ENSG00000255321', 'score': 0.39}, {'connected_gene': 'GC08M060522', 'score': 0.39}]
chr8 GH08I060530 60530328 60531941 0.54 [{'connected_gene': 'RAB2A', 'score': 27.15}, {'connected_gene': 'PIR33286', 'score': 0.39}, {'connected_gene': 'ENSG00000255321', 'score': 0.34}, {'connected_gene': 'GC08M060522', 'score': 0.26}]
chr8 GH08I060556 60556437 60557649 0.54 [{'connected_gene': 'RAB2A', 'score': 4.15}, {'connected_gene': 'ENSG00000255321', 'score': 0.77}, {'connected_gene': 'GC08M060522', 'score': 0.37}]
chr8 GH08I060541 60541120 60542567 0.77 [{'connected_gene': 'RAB2A', 'score': 27.2}, {'connected_gene': 'ENSG00000255321', 'score': 0.39}, {'connected_gene': 'PIR33286', 'score': 0.34}, {'connected_gene': 'GC08M060522', 'score': 0.29}]
chr8 GH08I060677 60677800 60681716 2.1 [{'connected_gene': 'CHD7', 'score': 555.49}, {'connected_gene': 'RAB2A', 'score': 5.14}, {'connected_gene': 'ENSG00000254432', 'score': 0.13}]
chr8 GH08I060908 60908136 60918387 2.2 [{'connected_gene': 'CHD7', 'score': 12.07}, {'connected_gene': 'ENSG00000254432', 'score': 11.46}, {'connected_gene': 'CLVS1', 'score': 10.75}, {'connected_gene': 'RAB2A', 'score': 4.83}, {'connected_gene': 'LOC105375938', 'score': 0.77}, {'connected_gene': 'ENSG00000254777', 'score': 0.77}, {'connected_gene': 'NASPP1', 'score': 0.31}]
chr8 GH08I060619 60619567 60620465 1.32 [{'connected_gene': 'NPM1P6', 'score': 11.96}, {'connected_gene': 'LINC01301', 'score': 10.66}, {'connected_gene': 'CLVS1', 'score': 10.4}, {'connected_gene': 'ENSG00000228862', 'score': 0.37}, {'connected_gene': 'GC08P060601', 'score': 0.37}, {'connected_gene': 'RAB2A', 'score': 0.15}]
chr8 GH08I060892 60892245 60893588 0.2 [{'connected_gene': 'CLVS1', 'score': 11.05}, {'connected_gene': 'RAB2A', 'score': 4.52}, {'connected_gene': 'LOC442389', 'score': 0.39}, {'connected_gene': 'GC08P060868', 'score': 0.34}]
chr8 GH08I060599 60599637 60601201 0.31 [{'connected_gene': 'GC08P060601', 'score': 550.77}, {'connected_gene': 'RAB2A', 'score': 26.98}, {'connected_gene': 'ENSG00000255321', 'score': 11.6}, {'connected_gene': 'CHD7', 'score': 9.88}, {'connected_gene': 'GC08M060522', 'score': 0.31}]
chr8 GH08I060602 60602322 60603302 0.2 [{'connected_gene': 'GC08P060601', 'score': 550.77}, {'connected_gene': 'RAB2A', 'score': 26.89}, {'connected_gene': 'ENSG00000255321', 'score': 11.6}, {'connected_gene': 'ENSG00000228862', 'score': 0.29}]
chr8 GH08I060534 60534601 60534800 0.51 [{'connected_gene': 'ENSG00000255321', 'score': 0.37}, {'connected_gene': 'RAB2A', 'score': 0.37}, {'connected_gene': 'PIR33286', 'score': 0.37}, {'connected_gene': 'GC08M060522', 'score': 0.26}]
chr8 GH08I060522 60522601 60522800 0.58 [{'connected_gene': 'ENSG00000255321', 'score': 11.28}, {'connected_gene': 'RAB2A', 'score': 0.44}, {'connected_gene': 'PIR33286', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.23}]
chr8 GH08I060523 60523201 60523400 0.51 [{'connected_gene': 'ENSG00000255321', 'score': 11.97}, {'connected_gene': 'RAB2A', 'score': 0.44}, {'connected_gene': 'PIR33286', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.23}]
chr8 GH08I060526 60526201 60527001 0.4 [{'connected_gene': 'ENSG00000255321', 'score': 13.27}, {'connected_gene': 'RAB2A', 'score': 6.52}, {'connected_gene': 'PIR33286', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.25}]
chr8 GH08I060576 60576031 60576961 1 [{'connected_gene': 'GC08M060522', 'score': 550.77}, {'connected_gene': 'RAB2A', 'score': 27.2}, {'connected_gene': 'ENSG00000255321', 'score': 12.93}, {'connected_gene': 'GC08P060601', 'score': 0.34}]
chr8 GH08I060552 60552305 60554989 0.49 [{'connected_gene': 'ENSG00000255321', 'score': 550.77}, {'connected_gene': 'RAB2A', 'score': 27.03}, {'connected_gene': 'GC08M060522', 'score': 0.34}]
chr8 GH08I060583 60583362 60584261 1.58 [{'connected_gene': 'ENSG00000255321', 'score': 11.76}, {'connected_gene': 'GC08M060522', 'score': 0.44}, {'connected_gene': 'GC08P060601', 'score': 0.37}, {'connected_gene': 'RAB2A', 'score': 0.2}]
chr8 GH08I060572 60572822 60574638 0.2 [{'connected_gene': 'GC08M060522', 'score': 550.77}, {'connected_gene': 'RAB2A', 'score': 26.97}, {'connected_gene': 'ENSG00000255321', 'score': 12.93}]
chr8 GH08I060613 60613962 60614091 0.49 [{'connected_gene': 'GC08P060601', 'score': 0.39}, {'connected_gene': 'ENSG00000228862', 'score': 0.34}, {'connected_gene': 'RAB2A', 'score': 0.15}]
chr8 GH08I060607 60607435 60608318 0.2 [{'connected_gene': 'ENSG00000255321', 'score': 11.58}, {'connected_gene': 'GC08P060601', 'score': 0.44}, {'connected_gene': 'ENSG00000228862', 'score': 0.31}, {'connected_gene': 'RAB2A', 'score': 0.16}]
chr8 GH08I060650 60650788 60654386 1.8 [{'connected_gene': 'ENSG00000254869', 'score': 550.77}, {'connected_gene': 'CHD7', 'score': 15.26}, {'connected_gene': 'RAB2A', 'score': 14.44}, {'connected_gene': 'CLVS1', 'score': 10.43}, {'connected_gene': 'ENSG00000255321', 'score': 9.99}, {'connected_gene': 'CA8', 'score': 1.18}, {'connected_gene': 'ENSG00000228862', 'score': 0.37}]
chr8 GH08I060660 60660526 60661000 0.91 [{'connected_gene': 'ENSG00000255289', 'score': 550.77}, {'connected_gene': 'CLVS1', 'score': 10.78}, {'connected_gene': 'RAB2A', 'score': 4.42}, {'connected_gene': 'ENSG00000254869', 'score': 0.44}]

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