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
ENST00000311317 [[105501491, 105501639], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514878, 105514982], [105515895, 105516016], [105519781, 105519905], [105520012, 105520140], [105520906, 105521067], [105527547, 105527674], [105531663, 105531789], [105534071, 105534179], [105534676, 105534823], [105534944, 105535024], [105536230, 105536336], [105536904, 105537021], [105538064, 105538233], [105538495, 105538650], [105540229, 105540304], [105540819, 105540924], [105541387, 105541683]] None
ENST00000332180 [[105501491, 105501639], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514878, 105514982], [105515895, 105516016], [105519781, 105519905], [105520012, 105520140], [105520906, 105521067], [105527547, 105527674], [105531663, 105531789], [105534071, 105534179], [105534676, 105534823], [105534944, 105535024], [105536230, 105536336], [105536904, 105537021], [105538064, 105538233], [105538495, 105538650], [105540229, 105540304], [105540819, 105540924], [105543392, 105543527], [105546120, 105546229], [105550503, 105550570], [105551013, 105551100], [105553778, 105553926], [105556526, 105556623], [105557888, 105558085], [105558418, 105558518], [105560641, 105562912]] [[105501578, 105501639], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514878, 105514982], [105515895, 105516016], [105519781, 105519905], [105520012, 105520140], [105520906, 105521067], [105527547, 105527674], [105531663, 105531789], [105534071, 105534179], [105534676, 105534823], [105534944, 105535024], [105536230, 105536336], [105536904, 105537021], [105538064, 105538233], [105538495, 105538650], [105540229, 105540304], [105540819, 105540924], [105543392, 105543527], [105546120, 105546229], [105550503, 105550570], [105551013, 105551100], [105553778, 105553926], [105556526, 105556623], [105557888, 105558085], [105558418, 105558518], [105560641, 105560709]]
ENST00000550053 [[105501492, 105501639], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514866, 105514982], [105515895, 105516016], [105519781, 105519905], [105520012, 105520140], [105520906, 105521067], [105527547, 105527674], [105531663, 105531789], [105534071, 105534179], [105534676, 105534823], [105534944, 105535024], [105536230, 105536336], [105536904, 105537021], [105538064, 105538233], [105538495, 105538650], [105540229, 105540304], [105540819, 105540924], [105543392, 105543527], [105546120, 105546229], [105550503, 105550570], [105551013, 105551100], [105553778, 105553926], [105556526, 105556623], [105557888, 105558085], [105558418, 105558518], [105560641, 105562908]] [[105501578, 105501639], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514866, 105514875]]
ENST00000547404 [[105501563, 105501639], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514866, 105514982], [105515895, 105516016], [105519781, 105519827]] [[105509452, 105509506], [105512223, 105512306], [105514332, 105514375], [105514866, 105514875]]
ENST00000548195 [[105501101, 105501232], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512294]] [[105509452, 105509506], [105512223, 105512294]]
ENST00000550613 [[105538226, 105538650], [105540229, 105540272]] None
ENST00000548534 [[105538495, 105538650], [105540229, 105540304], [105540819, 105541321]] None
ENST00000550786 [[105543251, 105543527], [105546120, 105546229], [105550503, 105550570], [105551013, 105551100], [105553778, 105553872]] None
ENST00000552203 [[105546123, 105546229], [105548887, 105548986], [105550503, 105550570], [105551013, 105551100]] [[105550511, 105550570], [105551013, 105551100]]
ENST00000551224 [[105550284, 105550570], [105551013, 105551100], [105553778, 105553926], [105556526, 105556580]] [[105550511, 105550570], [105551013, 105551100], [105553778, 105553926], [105556526, 105556580]]
ENST00000551290 [[105550392, 105550570], [105551013, 105551100], [105556526, 105556568]] None
ENST00000547171 [[105556526, 105556623], [105557888, 105558085], [105558450, 105558507]] None
ENST00000550036 [[105556568, 105556623], [105557888, 105558411]] None
NM_015275 [[105501491, 105501639], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514878, 105514982], [105515895, 105516016], [105519781, 105519905], [105520012, 105520140], [105520906, 105521067], [105527547, 105527674], [105531663, 105531789], [105534071, 105534179], [105534676, 105534823], [105534944, 105535024], [105536230, 105536336], [105536904, 105537021], [105538064, 105538233], [105538495, 105538650], [105540229, 105540304], [105540819, 105540924], [105543392, 105543527], [105546120, 105546229], [105550503, 105550570], [105551013, 105551100], [105553778, 105553926], [105556526, 105556623], [105557888, 105558085], [105558418, 105558518], [105560641, 105562912]] [[105501578, 105501639], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514878, 105514982], [105515895, 105516016], [105519781, 105519905], [105520012, 105520140], [105520906, 105521067], [105527547, 105527674], [105531663, 105531789], [105534071, 105534179], [105534676, 105534823], [105534944, 105535024], [105536230, 105536336], [105536904, 105537021], [105538064, 105538233], [105538495, 105538650], [105540229, 105540304], [105540819, 105540924], [105543392, 105543527], [105546120, 105546229], [105550503, 105550570], [105551013, 105551100], [105553778, 105553926], [105556526, 105556623], [105557888, 105558085], [105558418, 105558518], [105560641, 105560709]]
NM_001293640 [[105501491, 105501639], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514878, 105514982], [105515895, 105516016], [105519781, 105519905], [105520012, 105520140], [105520906, 105521067], [105527547, 105527677], [105531663, 105531789], [105534071, 105534179], [105534676, 105534823], [105534944, 105535024], [105536230, 105536336], [105536904, 105537021], [105538064, 105538233], [105538495, 105538650], [105540229, 105540304], [105540819, 105540924], [105543392, 105543527], [105546120, 105546229], [105550503, 105550570], [105551013, 105551100], [105553778, 105553926], [105556526, 105556623], [105557888, 105558085], [105558418, 105558518], [105560641, 105562912]] [[105501578, 105501639], [105504902, 105505042], [105507993, 105508047], [105508139, 105508205], [105508961, 105509007], [105509438, 105509506], [105512223, 105512306], [105514332, 105514375], [105514878, 105514982], [105515895, 105516016], [105519781, 105519905], [105520012, 105520140], [105520906, 105521067], [105527547, 105527677], [105531663, 105531789], [105534071, 105534179], [105534676, 105534823], [105534944, 105535024], [105536230, 105536336], [105536904, 105537021], [105538064, 105538233], [105538495, 105538650], [105540229, 105540304], [105540819, 105540924], [105543392, 105543527], [105546120, 105546229], [105550503, 105550570], [105551013, 105551100], [105553778, 105553926], [105556526, 105556623], [105557888, 105558085], [105558418, 105558518], [105560641, 105560709]]
Promoter
Chrom Start End Description
chr12 105501487 105501562 CAGE_peak_1_at_KIAA1033_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I104930 104930706 104930900 0.82 [{'connected_gene': 'SLC41A2', 'score': 12.78}, {'connected_gene': 'WASHC4', 'score': 4.11}, {'connected_gene': 'CHST11', 'score': 1.4}, {'connected_gene': 'GC12M104943', 'score': 0.37}, {'connected_gene': 'GC12M104883', 'score': 0.26}]
chr12 GH12I104747 104747621 104751799 1.04 [{'connected_gene': 'SLC41A2', 'score': 15.68}, {'connected_gene': 'WASHC4', 'score': 5.52}, {'connected_gene': 'GC12P104758', 'score': 0.44}, {'connected_gene': 'PIR42556', 'score': 0.26}, {'connected_gene': 'CHST11', 'score': 0.06}]
chr12 GH12I104215 104215163 104222310 2.52 [{'connected_gene': 'TXNRD1', 'score': 555.1}, {'connected_gene': 'TDG', 'score': 19.11}, {'connected_gene': 'WASHC4', 'score': 17.14}, {'connected_gene': 'RPL18AP3', 'score': 12.86}, {'connected_gene': 'EID3', 'score': 10.7}, {'connected_gene': 'CHST11', 'score': 1.25}]
chr12 GH12I104283 104283995 104290677 2.32 [{'connected_gene': 'TXNRD1', 'score': 550.19}, {'connected_gene': 'EID3', 'score': 43.72}, {'connected_gene': 'WASHC4', 'score': 12.48}, {'connected_gene': 'TDG', 'score': 12.27}, {'connected_gene': 'APPL2', 'score': 9.77}, {'connected_gene': 'ENSG00000257732', 'score': 0.44}]
chr12 GH12I104213 104213975 104214330 0.56 [{'connected_gene': 'TXNRD1', 'score': 550.77}, {'connected_gene': 'WASHC4', 'score': 4.56}, {'connected_gene': 'GC12P104172', 'score': 0.26}]
chr12 GH12I104611 104611401 104612743 0.74 [{'connected_gene': 'TDG', 'score': 14.02}, {'connected_gene': 'WASHC4', 'score': 12.38}, {'connected_gene': 'CHST11', 'score': 9.93}, {'connected_gene': 'GC12M104604', 'score': 0.77}, {'connected_gene': 'PIR42556', 'score': 0.16}]
chr12 GH12I104585 104585709 104586721 0.86 [{'connected_gene': 'TDG', 'score': 14.02}, {'connected_gene': 'WASHC4', 'score': 12.37}, {'connected_gene': 'GC12M104578', 'score': 0.77}, {'connected_gene': 'GC12P104580', 'score': 0.44}, {'connected_gene': 'CHST11', 'score': 0.12}]
chr12 GH12I104254 104254876 104256860 0.63 [{'connected_gene': 'TDG', 'score': 16.98}, {'connected_gene': 'WASHC4', 'score': 14.0}, {'connected_gene': 'NFYB', 'score': 6.06}, {'connected_gene': 'EID3', 'score': 5.72}, {'connected_gene': 'RPL18AP3', 'score': 0.44}, {'connected_gene': 'TXNRD1', 'score': 0.26}]
chr12 GH12I105293 105293073 105295322 0.62 [{'connected_gene': 'APPL2', 'score': 11.97}, {'connected_gene': 'WASHC4', 'score': 6.26}, {'connected_gene': 'C12orf75', 'score': 4.49}, {'connected_gene': 'KCCAT198', 'score': 0.29}]
chr12 GH12I105203 105203953 105207022 0.51 [{'connected_gene': 'APPL2', 'score': 28.28}, {'connected_gene': 'WASHC4', 'score': 21.42}, {'connected_gene': 'C12orf75', 'score': 11.22}, {'connected_gene': 'GC12P105208', 'score': 0.77}, {'connected_gene': 'LOC105369953', 'score': 0.44}]
chr12 GH12I105225 105225577 105237077 2.68 [{'connected_gene': 'APPL2', 'score': 571.35}, {'connected_gene': 'WASHC4', 'score': 32.78}, {'connected_gene': 'C12orf75', 'score': 13.14}, {'connected_gene': 'PIR46520', 'score': 0.37}, {'connected_gene': 'GC12P105208', 'score': 0.34}]
chr12 GH12I105090 105090443 105090732 0.43 [{'connected_gene': 'APPL2', 'score': 7.14}, {'connected_gene': 'ALDH1L2', 'score': 0.44}, {'connected_gene': 'WASHC4', 'score': 0.37}]
chr12 GH12I104602 104602752 104606999 1.7 [{'connected_gene': 'CHST11', 'score': 17.43}, {'connected_gene': 'TDG', 'score': 14.02}, {'connected_gene': 'WASHC4', 'score': 12.37}, {'connected_gene': 'TXNRD1', 'score': 2.86}, {'connected_gene': 'EID3', 'score': 2.39}, {'connected_gene': 'GC12M104604', 'score': 0.77}, {'connected_gene': 'MIR3922', 'score': 0.39}]
chr12 GH12I104666 104666759 104674599 1.77 [{'connected_gene': 'CHST11', 'score': 30.39}, {'connected_gene': 'WASHC4', 'score': 22.07}, {'connected_gene': 'TDG', 'score': 16.51}, {'connected_gene': 'RPL18AP3', 'score': 10.57}, {'connected_gene': 'EID3', 'score': 9.84}, {'connected_gene': 'HCFC2', 'score': 9.77}, {'connected_gene': 'TXNRD1', 'score': 2.42}, {'connected_gene': 'SLC41A2', 'score': 1.27}, {'connected_gene': 'PIR42556', 'score': 0.28}, {'connected_gene': 'GC12M104604', 'score': 0.21}]
chr12 GH12I104718 104718230 104723200 1.49 [{'connected_gene': 'CHST11', 'score': 17.48}, {'connected_gene': 'WASHC4', 'score': 6.42}, {'connected_gene': 'EID3', 'score': 1.88}, {'connected_gene': 'PIR42556', 'score': 0.39}, {'connected_gene': 'GC12P104758', 'score': 0.28}]
chr12 GH12I104648 104648002 104652799 1.22 [{'connected_gene': 'CHST11', 'score': 14.49}, {'connected_gene': 'WASHC4', 'score': 12.05}, {'connected_gene': 'GC12M104604', 'score': 0.26}, {'connected_gene': 'PIR42556', 'score': 0.22}]
chr12 GH12I104681 104681773 104683809 1.18 [{'connected_gene': 'CHST11', 'score': 15.11}, {'connected_gene': 'WASHC4', 'score': 8.92}, {'connected_gene': 'PIR42556', 'score': 0.34}, {'connected_gene': 'GC12M104604', 'score': 0.18}]
chr12 GH12I104637 104637002 104639440 1.07 [{'connected_gene': 'CHST11', 'score': 14.55}, {'connected_gene': 'WASHC4', 'score': 9.43}, {'connected_gene': 'GC12M104604', 'score': 0.29}, {'connected_gene': 'PIR42556', 'score': 0.2}]
chr12 GH12I104694 104694674 104696380 1.47 [{'connected_gene': 'CHST11', 'score': 14.24}, {'connected_gene': 'WASHC4', 'score': 6.18}, {'connected_gene': 'PIR42556', 'score': 0.39}, {'connected_gene': 'GC12M104604', 'score': 0.17}]
chr12 GH12I104640 104640970 104645600 1.58 [{'connected_gene': 'CHST11', 'score': 13.17}, {'connected_gene': 'WASHC4', 'score': 12.01}, {'connected_gene': 'GC12M104604', 'score': 0.28}, {'connected_gene': 'PIR42556', 'score': 0.21}]
chr12 GH12I104136 104136133 104139386 1.98 [{'connected_gene': 'NFYB', 'score': 556.21}, {'connected_gene': 'TDG', 'score': 27.79}, {'connected_gene': 'WASHC4', 'score': 21.03}, {'connected_gene': 'RNA5SP370', 'score': 0.39}]
chr12 GH12I105326 105326101 105337946 2.15 [{'connected_gene': 'C12orf75', 'score': 596.0}, {'connected_gene': 'APPL2', 'score': 16.31}, {'connected_gene': 'WASHC4', 'score': 10.35}, {'connected_gene': 'KCCAT198', 'score': 8.14}, {'connected_gene': 'LOC105369957', 'score': 0.26}]
chr12 GH12I105253 105253266 105258386 0.92 [{'connected_gene': 'C12orf75', 'score': 27.21}, {'connected_gene': 'APPL2', 'score': 22.84}, {'connected_gene': 'WASHC4', 'score': 20.35}, {'connected_gene': 'KCCAT198', 'score': 0.19}]
chr12 GH12I105982 105982646 105984679 0.51 [{'connected_gene': 'WASHC4', 'score': 5.53}, {'connected_gene': 'NUAK1', 'score': 5.21}, {'connected_gene': 'ST13P3', 'score': 0.29}, {'connected_gene': 'GC12M105897', 'score': 0.18}]
chr12 GH12I104890 104890503 104890691 0.39 [{'connected_gene': 'WASHC4', 'score': 6.17}, {'connected_gene': 'SLC41A2', 'score': 1.5}, {'connected_gene': 'CHST11', 'score': 1.48}, {'connected_gene': 'GC12M104883', 'score': 0.77}, {'connected_gene': 'GC12M104943', 'score': 0.22}]
chr12 GH12I105091 105091407 105093186 1.02 [{'connected_gene': 'WASHC4', 'score': 32.36}, {'connected_gene': 'APPL2', 'score': 24.09}, {'connected_gene': 'C12orf75', 'score': 22.9}, {'connected_gene': 'ALDH1L2', 'score': 0.44}]
chr12 GH12I105218 105218292 105224820 0.99 [{'connected_gene': 'WASHC4', 'score': 34.44}, {'connected_gene': 'APPL2', 'score': 19.38}, {'connected_gene': 'C12orf75', 'score': 12.66}, {'connected_gene': 'PIR46520', 'score': 0.44}, {'connected_gene': 'GC12P105208', 'score': 0.39}]
chr12 GH12I105106 105106532 105111681 2.1 [{'connected_gene': 'WASHC4', 'score': 583.11}, {'connected_gene': 'LOC414300', 'score': 550.77}, {'connected_gene': 'APPL2', 'score': 15.31}, {'connected_gene': 'KCCAT198', 'score': 8.24}, {'connected_gene': 'GC12P105154', 'score': 0.25}]
chr12 GH12I104595 104595723 104602073 1.41 [{'connected_gene': 'WASHC4', 'score': 12.88}, {'connected_gene': 'RPL18AP3', 'score': 10.88}, {'connected_gene': 'CHST11', 'score': 10.6}, {'connected_gene': 'TDG', 'score': 9.93}, {'connected_gene': 'MIR3922', 'score': 0.44}, {'connected_gene': 'GC12M104604', 'score': 0.44}]
chr12 GH12I105281 105281083 105281795 0.62 [{'connected_gene': 'WASHC4', 'score': 5.59}, {'connected_gene': 'C12orf75', 'score': 0.25}, {'connected_gene': 'APPL2', 'score': 0.25}, {'connected_gene': 'KCCAT198', 'score': 0.25}]
chr12 GH12I105100 105100597 105100930 0.62 [{'connected_gene': 'WASHC4', 'score': 0.44}, {'connected_gene': 'ALDH1L2', 'score': 0.37}]
chr12 GH12I106007 106007924 106008247 0.34 [{'connected_gene': 'WASHC4', 'score': 4.99}, {'connected_gene': 'ST13P3', 'score': 0.44}, {'connected_gene': 'GC12M105897', 'score': 0.14}]
chr12 GH12I105977 105977067 105979434 0.58 [{'connected_gene': 'WASHC4', 'score': 4.41}, {'connected_gene': 'ST13P3', 'score': 0.28}, {'connected_gene': 'GC12M105897', 'score': 0.18}]
chr12 GH12I105986 105986740 105988379 1.15 [{'connected_gene': 'WASHC4', 'score': 5.15}, {'connected_gene': 'ST13P3', 'score': 0.31}, {'connected_gene': 'GC12M105897', 'score': 0.17}]
chr12 GH12I105992 105992518 105994104 0.58 [{'connected_gene': 'WASHC4', 'score': 5.19}, {'connected_gene': 'ST13P3', 'score': 0.34}, {'connected_gene': 'GC12M105897', 'score': 0.16}]
chr12 GH12I105082 105082971 105085026 2.08 [{'connected_gene': 'ALDH1L2', 'score': 554.33}, {'connected_gene': 'WASHC4', 'score': 31.48}, {'connected_gene': 'C12orf75', 'score': 6.05}, {'connected_gene': 'PIR40149', 'score': 0.22}]
chr12 GH12I104971 104971434 104971650 0.22 [{'connected_gene': 'C12orf45', 'score': 8.11}, {'connected_gene': 'WASHC4', 'score': 2.18}, {'connected_gene': 'KRT18P20', 'score': 0.44}, {'connected_gene': 'SLC41A2', 'score': 0.39}, {'connected_gene': 'GC12M104965', 'score': 0.34}]
chr12 GH12I105198 105198114 105200691 0.69 [{'connected_gene': 'LOC105369953', 'score': 550.77}, {'connected_gene': 'WASHC4', 'score': 31.64}, {'connected_gene': 'C12orf75', 'score': 11.18}, {'connected_gene': 'APPL2', 'score': 11.18}, {'connected_gene': 'GC12P105154', 'score': 0.26}]
chr12 GH12I105210 105210681 105217597 1.15 [{'connected_gene': 'PIR46520', 'score': 550.77}, {'connected_gene': 'WASHC4', 'score': 28.2}, {'connected_gene': 'APPL2', 'score': 25.62}, {'connected_gene': 'C12orf75', 'score': 12.01}, {'connected_gene': 'GC12P105208', 'score': 0.44}, {'connected_gene': 'LOC105369953', 'score': 0.39}]
chr12 GH12I105208 105208567 105210015 0.43 [{'connected_gene': 'GC12P105208', 'score': 550.77}, {'connected_gene': 'WASHC4', 'score': 40.35}, {'connected_gene': 'PIR46520', 'score': 0.77}, {'connected_gene': 'LOC105369953', 'score': 0.44}, {'connected_gene': 'APPL2', 'score': 0.31}]

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