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
ENST00000330479 [[123868319, 123868755], [123873979, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123893353], [123893417, 123893898]] [[123868745, 123868755], [123873979, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123892250]]
ENST00000402868 [[123868319, 123868755], [123873979, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123893905]] [[123868745, 123868755], [123873979, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123892250]]
ENST00000437519 [[123868712, 123868755], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123893054]] [[123868745, 123868755], [123875176, 123875333], [123879593, 123879702]]
ENST00000537270 [[123868719, 123868755], [123872988, 123873304]] None
ENST00000478781 [[123873446, 123873729], [123875176, 123875333], [123879593, 123879813], [123880891, 123880956]] None
ENST00000461103 [[123873817, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621]] None
ENST00000462311 [[123874029, 123874101], [123875176, 123875851]] None
ENST00000437502 [[123874588, 123874697], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123892115]] [[123874592, 123874697], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123892115]]
ENST00000485469 [[123875926, 123875977], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889465]] None
NM_001324505 [[123868662, 123868755], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123893900]] [[123875215, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123892250]]
NM_001324504 [[123868662, 123868755], [123873979, 123873995], [123874085, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123893900]] [[123868745, 123868755], [123873979, 123873995], [123874085, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123892250]]
NM_020382 [[123868662, 123868755], [123873979, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123893900]] [[123868745, 123868755], [123873979, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123892250]]
NR_136910 [[123868662, 123868755], [123873979, 123874101], [123875176, 123875333], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889185, 123889298], [123889430, 123889621], [123892039, 123893900]] None
NM_001324506 [[123875821, 123875977], [123879593, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123893900]] [[123879628, 123879813], [123880891, 123880979], [123888119, 123888179], [123889430, 123889621], [123892039, 123892250]]
Promoter
Chrom Start End Description
chr12 123868633 123868663 CAGE_peak_4_at_SETD8_5end
chr12 123868664 123868734 CAGE_peak_2_at_SETD8_5end
chr12 123873442 123873518 CAGE_peak_1_at_SETD8_5end
chr12 123873533 123873553 CAGE_peak_3_at_SETD8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I122830 122830686 122831738 1.13 [{'connected_gene': 'KNTC1', 'score': 30.62}, {'connected_gene': 'RSRC2', 'score': 20.29}, {'connected_gene': 'PSMD9', 'score': 15.29}, {'connected_gene': 'EIF2B1', 'score': 14.67}, {'connected_gene': 'OGFOD2', 'score': 13.13}, {'connected_gene': 'ZCCHC8', 'score': 12.72}, {'connected_gene': 'KMT5A', 'score': 10.84}, {'connected_gene': 'DDX55', 'score': 10.51}, {'connected_gene': 'ATP6V0A2', 'score': 10.28}, {'connected_gene': 'VPS37B', 'score': 7.62}, {'connected_gene': 'HIP1R', 'score': 0.77}, {'connected_gene': 'CCDC62', 'score': 0.22}]
chr12 GH12I123426 123426532 123429173 0.99 [{'connected_gene': 'CDK2AP1', 'score': 27.61}, {'connected_gene': 'DDX55', 'score': 11.46}, {'connected_gene': 'RILPL1', 'score': 11.37}, {'connected_gene': 'ABCB9', 'score': 5.3}, {'connected_gene': 'OGFOD2', 'score': 4.79}, {'connected_gene': 'RILPL2', 'score': 0.44}, {'connected_gene': 'KMT5A', 'score': 0.26}]
chr12 GH12I123386 123386650 123391505 1.71 [{'connected_gene': 'CDK2AP1', 'score': 22.27}, {'connected_gene': 'ENSG00000256092', 'score': 12.79}, {'connected_gene': 'RILPL1', 'score': 11.2}, {'connected_gene': 'DNAH10', 'score': 5.98}, {'connected_gene': 'KMT5A', 'score': 0.44}, {'connected_gene': 'RILPL2', 'score': 0.25}]
chr12 GH12I123396 123396427 123397524 0.31 [{'connected_gene': 'CDK2AP1', 'score': 29.36}, {'connected_gene': 'RILPL2', 'score': 12.6}, {'connected_gene': 'SBNO1', 'score': 12.48}, {'connected_gene': 'ENSG00000207189', 'score': 12.44}, {'connected_gene': 'TMED2', 'score': 11.25}, {'connected_gene': 'LOC101927415', 'score': 11.25}, {'connected_gene': 'RILPL1', 'score': 11.08}, {'connected_gene': 'DDX55', 'score': 10.78}, {'connected_gene': 'KMT5A', 'score': 0.39}]
chr12 GH12I123397 123397909 123399776 0.54 [{'connected_gene': 'CDK2AP1', 'score': 20.98}, {'connected_gene': 'LOC101927415', 'score': 17.78}, {'connected_gene': 'ENSG00000256092', 'score': 12.77}, {'connected_gene': 'TMED2', 'score': 11.25}, {'connected_gene': 'RILPL1', 'score': 10.98}, {'connected_gene': 'DNAH10', 'score': 5.98}, {'connected_gene': 'KMT5A', 'score': 0.37}, {'connected_gene': 'RILPL2', 'score': 0.28}]
chr12 GH12I124187 124187739 124189336 0.93 [{'connected_gene': 'CCDC92', 'score': 4.28}, {'connected_gene': 'KMT5A', 'score': 4.21}, {'connected_gene': 'PIR47832', 'score': 0.39}, {'connected_gene': 'PIR38750', 'score': 0.17}, {'connected_gene': 'ZNF664-RFLNA', 'score': 0.08}, {'connected_gene': 'RFLNA', 'score': 0.08}]
chr12 GH12I122427 122427293 122428037 0.76 [{'connected_gene': 'RSRC2', 'score': 122.69}, {'connected_gene': 'ZCCHC8', 'score': 111.84}, {'connected_gene': 'ENSG00000235423', 'score': 67.26}, {'connected_gene': 'ENSG00000272849', 'score': 66.11}, {'connected_gene': 'SETD1B', 'score': 57.15}, {'connected_gene': 'KNTC1', 'score': 49.34}, {'connected_gene': 'OGFOD2', 'score': 47.64}, {'connected_gene': 'C12orf65', 'score': 45.31}, {'connected_gene': 'LINC01089', 'score': 30.27}, {'connected_gene': 'PSMD9', 'score': 21.7}, {'connected_gene': 'KMT5A', 'score': 19.49}, {'connected_gene': 'CLIP1', 'score': 11.99}, {'connected_gene': 'TMEM120B', 'score': 11.89}, {'connected_gene': 'ENSG00000256092', 'score': 11.03}, {'connected_gene': 'DIABLO', 'score': 10.74}, {'connected_gene': 'ABCB9', 'score': 10.72}, {'connected_gene': 'SBNO1', 'score': 10.4}, {'connected_gene': 'KDM2B', 'score': 9.77}, {'connected_gene': 'ENSG00000252192', 'score': 0.21}]
chr12 GH12I123512 123512934 123513083 0.99 [{'connected_gene': 'DDX55', 'score': 53.12}, {'connected_gene': 'RSRC2', 'score': 47.78}, {'connected_gene': 'EIF2B1', 'score': 40.16}, {'connected_gene': 'ENSG00000235423', 'score': 36.11}, {'connected_gene': 'C12orf65', 'score': 26.82}, {'connected_gene': 'KNTC1', 'score': 26.1}, {'connected_gene': 'GTF2H3', 'score': 23.99}, {'connected_gene': 'TCTN2', 'score': 23.61}, {'connected_gene': 'OGFOD2', 'score': 13.05}, {'connected_gene': 'ATP6V0A2', 'score': 11.66}, {'connected_gene': 'KMT5A', 'score': 11.45}, {'connected_gene': 'LOC101927415', 'score': 10.06}, {'connected_gene': 'ABCB9', 'score': 9.74}, {'connected_gene': 'ENSG00000274427', 'score': 0.77}, {'connected_gene': 'RILPL1', 'score': 0.34}, {'connected_gene': 'PIR40920', 'score': 0.23}]
chr12 GH12I123600 123600870 123603422 2.12 [{'connected_gene': 'DDX55', 'score': 593.02}, {'connected_gene': 'LOC101927415', 'score': 78.88}, {'connected_gene': 'EIF2B1', 'score': 41.54}, {'connected_gene': 'C12orf65', 'score': 38.47}, {'connected_gene': 'OGFOD2', 'score': 27.35}, {'connected_gene': 'ATP6V0A2', 'score': 25.97}, {'connected_gene': 'DNAH10OS', 'score': 11.71}, {'connected_gene': 'KMT5A', 'score': 11.34}, {'connected_gene': 'ENSG00000270130', 'score': 10.9}, {'connected_gene': 'ENSG00000270028', 'score': 10.81}, {'connected_gene': 'ABCB9', 'score': 10.74}, {'connected_gene': 'ARL6IP4', 'score': 10.71}, {'connected_gene': 'TCTN2', 'score': 10.58}, {'connected_gene': 'GC12P123618', 'score': 0.39}]
chr12 GH12I122498 122498882 122502828 2.09 [{'connected_gene': 'ZCCHC8', 'score': 577.75}, {'connected_gene': 'ENSG00000275265', 'score': 550.77}, {'connected_gene': 'RSRC2', 'score': 36.46}, {'connected_gene': 'KNTC1', 'score': 26.08}, {'connected_gene': 'PSMD9', 'score': 22.74}, {'connected_gene': 'SETD1B', 'score': 12.61}, {'connected_gene': 'KMT5A', 'score': 11.35}, {'connected_gene': 'ENSG00000252192', 'score': 0.44}]
chr12 GH12I122978 122978762 122988446 2.24 [{'connected_gene': 'ARL6IP4', 'score': 550.77}, {'connected_gene': 'ABCB9', 'score': 550.77}, {'connected_gene': 'EIF2B1', 'score': 38.56}, {'connected_gene': 'ZCCHC8', 'score': 37.33}, {'connected_gene': 'RSRC2', 'score': 35.02}, {'connected_gene': 'CDK2AP1', 'score': 32.47}, {'connected_gene': 'DDX55', 'score': 25.09}, {'connected_gene': 'KNTC1', 'score': 22.15}, {'connected_gene': 'MPHOSPH9', 'score': 21.44}, {'connected_gene': 'ATP6V0A2', 'score': 19.53}, {'connected_gene': 'PITPNM2', 'score': 13.04}, {'connected_gene': 'TCTN2', 'score': 10.61}, {'connected_gene': 'LOC101927415', 'score': 10.6}, {'connected_gene': 'KMT5A', 'score': 10.27}, {'connected_gene': 'ENSG00000235423', 'score': 9.88}, {'connected_gene': 'ENSG00000256092', 'score': 9.2}, {'connected_gene': 'OGFOD2', 'score': 0.44}, {'connected_gene': 'ENSG00000256028', 'score': 0.44}, {'connected_gene': 'MIR4304', 'score': 0.31}]
chr12 GH12I123382 123382587 123385698 2.29 [{'connected_gene': 'KMT5A', 'score': 550.77}, {'connected_gene': 'ZCCHC8', 'score': 37.73}, {'connected_gene': 'KNTC1', 'score': 35.24}, {'connected_gene': 'RSRC2', 'score': 34.92}, {'connected_gene': 'EIF2B1', 'score': 23.81}, {'connected_gene': 'CDK2AP1', 'score': 20.92}, {'connected_gene': 'ENSG00000256092', 'score': 12.82}, {'connected_gene': 'LOC101927415', 'score': 11.66}, {'connected_gene': 'ATP6V0A2', 'score': 11.0}, {'connected_gene': 'OGFOD2', 'score': 9.87}, {'connected_gene': 'DNAH10', 'score': 5.99}, {'connected_gene': 'HCAR2', 'score': 3.91}, {'connected_gene': 'RILPL2', 'score': 0.23}]
chr12 GH12I123391 123391515 123392258 0.2 [{'connected_gene': 'RILPL1', 'score': 11.04}, {'connected_gene': 'KMT5A', 'score': 0.44}, {'connected_gene': 'RILPL2', 'score': 0.26}]
chr12 GH12I123711 123711073 123715802 2.51 [{'connected_gene': 'ATP6V0A2', 'score': 555.12}, {'connected_gene': 'TCTN2', 'score': 43.92}, {'connected_gene': 'DDX55', 'score': 19.06}, {'connected_gene': 'DNAH10', 'score': 17.34}, {'connected_gene': 'EIF2B1', 'score': 14.26}, {'connected_gene': 'C12orf65', 'score': 11.62}, {'connected_gene': 'KMT5A', 'score': 11.32}, {'connected_gene': 'ENSG00000270130', 'score': 10.92}, {'connected_gene': 'LOC101927415', 'score': 5.11}, {'connected_gene': 'RPL27P12', 'score': 0.44}, {'connected_gene': 'LOC105370042', 'score': 0.39}]
chr12 GH12I122919 122919249 122920764 1.07 [{'connected_gene': 'EIF2B1', 'score': 169.91}, {'connected_gene': 'RSRC2', 'score': 155.44}, {'connected_gene': 'ZCCHC8', 'score': 143.79}, {'connected_gene': 'DDX55', 'score': 140.79}, {'connected_gene': 'ATP6V0A2', 'score': 93.61}, {'connected_gene': 'LOC101927415', 'score': 86.86}, {'connected_gene': 'ENSG00000235423', 'score': 86.38}, {'connected_gene': 'C12orf65', 'score': 63.23}, {'connected_gene': 'TCTN2', 'score': 52.99}, {'connected_gene': 'KNTC1', 'score': 49.24}, {'connected_gene': 'OGFOD2', 'score': 47.84}, {'connected_gene': 'GTF2H3', 'score': 30.9}, {'connected_gene': 'KMT5A', 'score': 29.01}, {'connected_gene': 'ABCB9', 'score': 19.75}, {'connected_gene': 'ENSG00000256092', 'score': 11.04}, {'connected_gene': 'DIABLO', 'score': 10.69}, {'connected_gene': 'SBNO1', 'score': 10.42}, {'connected_gene': 'ENSG00000269980', 'score': 9.99}, {'connected_gene': 'CDK2AP1', 'score': 8.43}, {'connected_gene': 'VPS37B', 'score': 0.34}]
chr12 GH12I123374 123374302 123375328 0.82 [{'connected_gene': 'EIF2B1', 'score': 22.37}, {'connected_gene': 'DDX55', 'score': 18.03}, {'connected_gene': 'RSRC2', 'score': 17.4}, {'connected_gene': 'ZCCHC8', 'score': 16.69}, {'connected_gene': 'ENSG00000235423', 'score': 14.16}, {'connected_gene': 'LOC101927415', 'score': 14.15}, {'connected_gene': 'ENSG00000256092', 'score': 12.77}, {'connected_gene': 'ATP6V0A2', 'score': 11.32}, {'connected_gene': 'SBNO1', 'score': 0.44}, {'connected_gene': 'KMT5A', 'score': 0.44}]
chr12 GH12I123431 123431373 123437401 2.56 [{'connected_gene': 'RILPL2', 'score': 594.61}, {'connected_gene': 'KNTC1', 'score': 16.29}, {'connected_gene': 'CDK2AP1', 'score': 13.3}, {'connected_gene': 'OGFOD2', 'score': 13.06}, {'connected_gene': 'DDX55', 'score': 10.58}, {'connected_gene': 'RSRC2', 'score': 9.89}, {'connected_gene': 'ABCB9', 'score': 5.68}, {'connected_gene': 'ENSG00000256092', 'score': 4.17}, {'connected_gene': 'SBNO1', 'score': 2.33}, {'connected_gene': 'C12orf65', 'score': 2.03}, {'connected_gene': 'KMT5A', 'score': 0.23}]
chr12 GH12I123402 123402094 123402223 0.43 [{'connected_gene': 'TMED2', 'score': 11.26}, {'connected_gene': 'LOC101927415', 'score': 11.26}, {'connected_gene': 'RILPL1', 'score': 10.98}, {'connected_gene': 'KMT5A', 'score': 0.37}, {'connected_gene': 'RILPL2', 'score': 0.29}]
chr12 GH12I123582 123582214 123586174 2.11 [{'connected_gene': 'LOC101927415', 'score': 616.72}, {'connected_gene': 'TMED2', 'score': 550.77}, {'connected_gene': 'GC12M123581', 'score': 550.77}, {'connected_gene': 'EIF2B1', 'score': 31.02}, {'connected_gene': 'DDX55', 'score': 28.2}, {'connected_gene': 'ATP6V0A2', 'score': 23.2}, {'connected_gene': 'TCTN2', 'score': 19.6}, {'connected_gene': 'NCOR2', 'score': 14.03}, {'connected_gene': 'DNAH10OS', 'score': 11.71}, {'connected_gene': 'KMT5A', 'score': 11.41}, {'connected_gene': 'ENSG00000270028', 'score': 10.81}, {'connected_gene': 'OGFOD2', 'score': 9.85}, {'connected_gene': 'GTF2H3', 'score': 5.21}, {'connected_gene': 'MIR3908', 'score': 0.25}]
chr12 GH12I123372 123372963 123373786 0.54 [{'connected_gene': 'ENSG00000256092', 'score': 12.79}, {'connected_gene': 'CDK2AP1', 'score': 12.12}, {'connected_gene': 'SBNO1', 'score': 0.44}, {'connected_gene': 'KMT5A', 'score': 0.39}]

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