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
ENST00000483857 [[127391777, 127391924], [127393233, 127393261], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395869]] [[127391868, 127391924], [127393233, 127393261], [127393387, 127393443], [127394812, 127394846]]
ENST00000393363 [[127391780, 127391924], [127393233, 127393296], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399768]] [[127395220, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399318]]
ENST00000232744 [[127391782, 127391924], [127393233, 127393296], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399760]] [[127391868, 127391924], [127393233, 127393296], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399318]]
ENST00000475265 [[127391789, 127391924], [127393187, 127393261], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395916]] None
ENST00000493365 [[127391794, 127391924], [127393233, 127393296], [127393387, 127393443], [127394812, 127395278]] None
ENST00000475042 [[127391800, 127391924], [127393233, 127393261], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399763]] [[127391868, 127391924], [127393233, 127393261], [127393387, 127393443], [127394812, 127394846]]
ENST00000453791 [[127391800, 127391924], [127393187, 127393261], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399763]] [[127395220, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399318]]
ENST00000466612 [[127391856, 127392451], [127393233, 127393296], [127393387, 127393444]] None
ENST00000479280 [[127391876, 127391924], [127393233, 127393296], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395652]] None
ENST00000467179 [[127392148, 127392226], [127393233, 127393296], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396036]] None
ENST00000468137 [[127392952, 127393261], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399756]] [[127395220, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399318]]
ENST00000464431 [[127394328, 127395274], [127395378, 127396129], [127396307, 127399028], [127399111, 127399754]] None
ENST00000491633 [[127394927, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396649, 127396686], [127398827, 127398908]] None
ENST00000478298 [[127395378, 127395424], [127395809, 127396129], [127396307, 127396686], [127398827, 127398900]] None
ENST00000474129 [[127395814, 127395926], [127396010, 127396129], [127396307, 127396686], [127398827, 127398900]] None
ENST00000497162 [[127396019, 127396129], [127396307, 127396406], [127396518, 127396686], [127398415, 127398522], [127398827, 127398906]] [[127396019, 127396129], [127396307, 127396406], [127396518, 127396686], [127398415, 127398463]]
NR_033429 [[127391780, 127391924], [127393233, 127393261], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399769]] None
NM_172027 [[127391780, 127391924], [127393233, 127393296], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399769]] [[127391868, 127391924], [127393233, 127393296], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399318]]
NM_032548 [[127391780, 127391924], [127393187, 127393261], [127393387, 127393443], [127394812, 127394957], [127395114, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399769]] [[127395220, 127395274], [127395378, 127395424], [127395809, 127395926], [127396010, 127396129], [127396307, 127396406], [127396518, 127396686], [127398827, 127399028], [127399111, 127399318]]
Promoter
Chrom Start End Description
chr3 127391769 127391861 CAGE_peak_1_at_ABTB1_5end
chr3 127392292 127392302 CAGE_peak_2_at_ABTB1_5end
chr3 127395141 127395157 CAGE_peak_3_at_ABTB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I127847 127847146 127850363 0.54 [{'connected_gene': 'ABTB1', 'score': 11.15}, {'connected_gene': 'PODXL2', 'score': 10.14}, {'connected_gene': 'MCM2', 'score': 10.0}, {'connected_gene': 'TPRA1', 'score': 10.0}, {'connected_gene': 'LOC105374096', 'score': 0.44}, {'connected_gene': 'GC03M127760', 'score': 0.39}]
chr3 GH03I127671 127671500 127674261 2.08 [{'connected_gene': 'ABTB1', 'score': 559.69}, {'connected_gene': 'GC03P127673', 'score': 550.77}, {'connected_gene': 'GC03P127674', 'score': 550.77}, {'connected_gene': 'TPRA1', 'score': 12.46}, {'connected_gene': 'PODXL2', 'score': 10.51}]
chr3 GH03I127784 127784497 127789493 1.05 [{'connected_gene': 'ABTB1', 'score': 11.81}, {'connected_gene': 'MGLL', 'score': 0.28}, {'connected_gene': 'GC03M127760', 'score': 0.25}]
chr3 GH03I127702 127702849 127703786 0.2 [{'connected_gene': 'ABTB1', 'score': 0.29}, {'connected_gene': 'MGLL', 'score': 0.13}]
chr3 GH03I127676 127676138 127676319 0.99 [{'connected_gene': 'ABTB1', 'score': 550.77}, {'connected_gene': 'MGLL', 'score': 0.11}]
chr3 GH03I127789 127789988 127794036 1.23 [{'connected_gene': 'ABTB1', 'score': 11.8}, {'connected_gene': 'MGLL', 'score': 0.29}, {'connected_gene': 'GC03M127760', 'score': 0.26}]
chr3 GH03I127652 127652258 127652407 0.64 [{'connected_gene': 'PODXL2', 'score': 12.29}, {'connected_gene': 'ABTB1', 'score': 12.26}, {'connected_gene': 'MCM2', 'score': 11.22}, {'connected_gene': 'TPRA1', 'score': 11.22}, {'connected_gene': 'GC03P127673', 'score': 0.34}, {'connected_gene': 'GC03P127674', 'score': 0.34}]
chr3 GH03I127737 127737846 127739800 0.99 [{'connected_gene': 'PODXL2', 'score': 11.17}, {'connected_gene': 'ABTB1', 'score': 0.2}, {'connected_gene': 'MGLL', 'score': 0.18}]
chr3 GH03I127740 127740566 127741638 0.31 [{'connected_gene': 'PODXL2', 'score': 11.16}, {'connected_gene': 'ABTB1', 'score': 0.2}, {'connected_gene': 'MGLL', 'score': 0.18}]
chr3 GH03I127717 127717025 127717937 0.31 [{'connected_gene': 'PODXL2', 'score': 10.8}, {'connected_gene': 'ABTB1', 'score': 0.26}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3 GH03I127718 127718018 127718167 0.51 [{'connected_gene': 'PODXL2', 'score': 10.8}, {'connected_gene': 'ABTB1', 'score': 0.25}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3 GH03I127683 127683401 127684067 0.76 [{'connected_gene': 'PODXL2', 'score': 11.67}, {'connected_gene': 'MCM2', 'score': 10.58}, {'connected_gene': 'TPRA1', 'score': 10.58}, {'connected_gene': 'ABTB1', 'score': 4.72}, {'connected_gene': 'MGLL', 'score': 0.12}]
chr3 GH03I127764 127764972 127766475 0.63 [{'connected_gene': 'PODXL2', 'score': 10.4}, {'connected_gene': 'MCM2', 'score': 10.27}, {'connected_gene': 'TPRA1', 'score': 10.27}, {'connected_gene': 'MGLL', 'score': 8.65}, {'connected_gene': 'GC03M127760', 'score': 0.2}, {'connected_gene': 'ABTB1', 'score': 0.16}]
chr3 GH03I127688 127688107 127692079 1.06 [{'connected_gene': 'PODXL2', 'score': 20.97}, {'connected_gene': 'TPRA1', 'score': 9.31}, {'connected_gene': 'ABTB1', 'score': 4.84}, {'connected_gene': 'MGLL', 'score': 0.12}]
chr3 GH03I127686 127686150 127687040 0.52 [{'connected_gene': 'PODXL2', 'score': 18.93}, {'connected_gene': 'MGLL', 'score': 1.33}, {'connected_gene': 'ABTB1', 'score': 0.39}]
chr3 GH03I127753 127753433 127756579 1.51 [{'connected_gene': 'PODXL2', 'score': 5.05}, {'connected_gene': 'MGLL', 'score': 4.87}, {'connected_gene': 'TPRA1', 'score': 3.36}, {'connected_gene': 'ABTB1', 'score': 0.18}]
chr3 GH03I127637 127637658 127637867 0.38 [{'connected_gene': 'MCM2', 'score': 11.46}, {'connected_gene': 'TPRA1', 'score': 11.46}, {'connected_gene': 'ABTB1', 'score': 11.13}, {'connected_gene': 'PODXL2', 'score': 0.44}, {'connected_gene': 'GC03P127673', 'score': 0.29}, {'connected_gene': 'GC03P127674', 'score': 0.29}]
chr3 GH03I127766 127766999 127779089 1.57 [{'connected_gene': 'MCM2', 'score': 15.21}, {'connected_gene': 'TPRA1', 'score': 13.82}, {'connected_gene': 'MGLL', 'score': 11.36}, {'connected_gene': 'ABTB1', 'score': 11.2}, {'connected_gene': 'PODXL2', 'score': 10.84}, {'connected_gene': 'GC03M127760', 'score': 0.21}]
chr3 GH03I127757 127757654 127758721 0.31 [{'connected_gene': 'KBTBD12', 'score': 4.88}, {'connected_gene': 'MGLL', 'score': 0.2}, {'connected_gene': 'ABTB1', 'score': 0.17}]
chr3 GH03I128496 128496153 128498367 1.58 [{'connected_gene': 'DNAJB8', 'score': 19.43}, {'connected_gene': 'GATA2', 'score': 17.86}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.92}, {'connected_gene': 'LINC01565', 'score': 11.57}, {'connected_gene': 'GATA2-AS1', 'score': 8.64}, {'connected_gene': 'TMED10P2', 'score': 5.91}, {'connected_gene': 'ABTB1', 'score': 5.06}, {'connected_gene': 'EEFSEC', 'score': 1.38}, {'connected_gene': 'LOC90246', 'score': 0.39}]
chr3 GH03I127666 127666331 127668116 0.31 [{'connected_gene': 'TPRA1', 'score': 12.45}, {'connected_gene': 'ABTB1', 'score': 9.43}, {'connected_gene': 'GC03P127673', 'score': 0.44}, {'connected_gene': 'GC03P127674', 'score': 0.44}, {'connected_gene': 'PODXL2', 'score': 0.28}]
chr3 GH03I127734 127733158 127733307 0.97 [{'connected_gene': 'TPRA1', 'score': 14.44}, {'connected_gene': 'ABTB1', 'score': 0.21}, {'connected_gene': 'MGLL', 'score': 0.16}]
chr3 GH03I127696 127696002 127702538 1.3 [{'connected_gene': 'TPRA1', 'score': 17.51}, {'connected_gene': 'ABTB1', 'score': 5.33}, {'connected_gene': 'MGLL', 'score': 0.13}]
chr3 GH03I127713 127713601 127714600 0.63 [{'connected_gene': 'TPRA1', 'score': 5.2}, {'connected_gene': 'ABTB1', 'score': 0.26}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3 GH03I127731 127731502 127733000 1.2 [{'connected_gene': 'TPRA1', 'score': 18.15}, {'connected_gene': 'ABTB1', 'score': 0.22}, {'connected_gene': 'MGLL', 'score': 0.16}]
chr3 GH03I127677 127677041 127679695 0.56 [{'connected_gene': 'TPRA1', 'score': 10.31}, {'connected_gene': 'PODXL2', 'score': 10.29}, {'connected_gene': 'ABTB1', 'score': 9.36}, {'connected_gene': 'MGLL', 'score': 0.11}]
chr3 GH03I127588 127588658 127593397 2.24 [{'connected_gene': 'TPRA1', 'score': 569.29}, {'connected_gene': 'PIR40762', 'score': 550.77}, {'connected_gene': 'PODXL2', 'score': 18.86}, {'connected_gene': 'ABTB1', 'score': 9.28}, {'connected_gene': 'MIR7976', 'score': 0.77}]
chr3 GH03I127719 127719838 127726251 0.57 [{'connected_gene': 'TPRA1', 'score': 19.36}, {'connected_gene': 'PODXL2', 'score': 10.79}, {'connected_gene': 'EEFSEC', 'score': 10.32}, {'connected_gene': 'ABTB1', 'score': 0.23}, {'connected_gene': 'MGLL', 'score': 0.15}]
chr3 GH03I127779 127779459 127782825 1.14 [{'connected_gene': 'TPRA1', 'score': 20.68}, {'connected_gene': 'SEC61A1', 'score': 10.4}, {'connected_gene': 'MGLL', 'score': 0.26}, {'connected_gene': 'GC03M127760', 'score': 0.23}, {'connected_gene': 'ABTB1', 'score': 0.14}]
chr3 GH03I127743 127743601 127752600 1.63 [{'connected_gene': 'TPRA1', 'score': 11.58}, {'connected_gene': 'MGLL', 'score': 5.79}, {'connected_gene': 'ABTB1', 'score': 0.18}]
chr3 GH03I127733 127733657 127737799 1.43 [{'connected_gene': 'TPRA1', 'score': 10.22}, {'connected_gene': 'MGLL', 'score': 7.91}, {'connected_gene': 'ABTB1', 'score': 0.21}]
chr3 GH03I127729 127729109 127730999 1.34 [{'connected_gene': 'TPRA1', 'score': 9.53}, {'connected_gene': 'MGLL', 'score': 3.95}, {'connected_gene': 'ABTB1', 'score': 0.22}]
chr3 GH03I127813 127813876 127824143 2.66 [{'connected_gene': 'MGLL', 'score': 554.56}, {'connected_gene': 'RUVBL1', 'score': 10.78}, {'connected_gene': 'TPRA1', 'score': 1.46}, {'connected_gene': 'KBTBD12', 'score': 1.45}, {'connected_gene': 'GC03M127760', 'score': 0.37}, {'connected_gene': 'ABTB1', 'score': 0.11}]
chr3 GH03I127785 127784352 127784407 0.51 [{'connected_gene': 'MGLL', 'score': 0.28}, {'connected_gene': 'GC03M127760', 'score': 0.25}, {'connected_gene': 'ABTB1', 'score': 0.14}]
chr3 GH03I127808 127808052 127809118 0.56 [{'connected_gene': 'MGLL', 'score': 0.39}, {'connected_gene': 'GC03M127760', 'score': 0.31}, {'connected_gene': 'ABTB1', 'score': 0.12}]
chr3 GH03I127798 127798180 127801351 0.97 [{'connected_gene': 'MGLL', 'score': 0.34}, {'connected_gene': 'GC03M127760', 'score': 0.29}, {'connected_gene': 'ABTB1', 'score': 0.13}]
chr3 GH03I127796 127796020 127797644 0.52 [{'connected_gene': 'MGLL', 'score': 0.31}, {'connected_gene': 'GC03M127760', 'score': 0.28}, {'connected_gene': 'ABTB1', 'score': 0.13}]
chr3 GH03I127759 127759661 127760953 0.2 [{'connected_gene': 'MGLL', 'score': 0.21}, {'connected_gene': 'GC03M127760', 'score': 0.19}, {'connected_gene': 'ABTB1', 'score': 0.17}]
chr3 GH03I127806 127806703 127807673 0.56 [{'connected_gene': 'MGLL', 'score': 0.37}, {'connected_gene': 'GC03M127760', 'score': 0.31}, {'connected_gene': 'ABTB1', 'score': 0.12}]
chr3 GH03I127761 127761039 127764296 1.14 [{'connected_gene': 'MGLL', 'score': 8.66}, {'connected_gene': 'MCM2', 'score': 5.35}, {'connected_gene': 'GC03M127760', 'score': 0.19}, {'connected_gene': 'ABTB1', 'score': 0.17}]
chr3 GH03I127801 127801842 127805840 1.32 [{'connected_gene': 'MGLL', 'score': 2.79}, {'connected_gene': 'TPRA1', 'score': 1.94}, {'connected_gene': 'GC03M127760', 'score': 0.29}, {'connected_gene': 'ABTB1', 'score': 0.12}]
chr3 GH03I127586 127585198 127585347 0.63 [{'connected_gene': 'MIR7976', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.25}, {'connected_gene': 'PODXL2', 'score': 11.12}, {'connected_gene': 'MIR6825', 'score': 0.44}, {'connected_gene': 'TPRA1', 'score': 0.39}]
chr3 GH03I127585 127585378 127585527 0.6 [{'connected_gene': 'MIR7976', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.25}, {'connected_gene': 'PODXL2', 'score': 11.12}, {'connected_gene': 'MIR6825', 'score': 0.39}, {'connected_gene': 'TPRA1', 'score': 0.39}]
chr3 GH03I127705 127705217 127711944 0.67 [{'connected_gene': 'LINC01471', 'score': 7.43}, {'connected_gene': 'ABTB1', 'score': 5.25}, {'connected_gene': 'TPRA1', 'score': 4.74}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3 GH03I127825 127825829 127826214 0.37 [{'connected_gene': 'GC03P127827', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.45}, {'connected_gene': 'MCM2', 'score': 10.49}, {'connected_gene': 'TPRA1', 'score': 10.49}, {'connected_gene': 'MGLL', 'score': 0.77}, {'connected_gene': 'GC03M127760', 'score': 0.44}]
chr3 GH03I127832 127832474 127833986 0.46 [{'connected_gene': 'GC03M127760', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.44}, {'connected_gene': 'TPRA1', 'score': 10.49}, {'connected_gene': 'MCM2', 'score': 10.48}, {'connected_gene': 'GC03P127828', 'score': 0.77}]
chr3 GH03I127886 127886890 127887086 0.2 [{'connected_gene': 'GC03P127885', 'score': 550.77}, {'connected_gene': 'KBTBD12', 'score': 11.91}, {'connected_gene': 'PODXL2', 'score': 10.47}, {'connected_gene': 'ABTB1', 'score': 4.63}, {'connected_gene': 'GC03P127895', 'score': 0.44}]

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