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
ENST00000261534 [[77741298, 77743824], [77744736, 77744851], [77745071, 77745212], [77746165, 77746271], [77746363, 77746423], [77746734, 77746806], [77750139, 77750216], [77751292, 77751384], [77751823, 77751975], [77753086, 77753165], [77755104, 77755174], [77757656, 77757723], [77762506, 77762616], [77765031, 77765114], [77765797, 77765904], [77767432, 77767592], [77769177, 77769286], [77771034, 77771143], [77772679, 77772784], [77778291, 77778376], [77786776, 77787227]] [[77743718, 77743824], [77744736, 77744851], [77745071, 77745212], [77746165, 77746271], [77746363, 77746423], [77746734, 77746806], [77750139, 77750216], [77751292, 77751384], [77751823, 77751975], [77753086, 77753165], [77755104, 77755174], [77757656, 77757723], [77762506, 77762616], [77765031, 77765114], [77765797, 77765904], [77767432, 77767592], [77769177, 77769286], [77771034, 77771143], [77772679, 77772784], [77778291, 77778376], [77786776, 77787024]]
ENST00000554767 [[77741300, 77743824], [77744736, 77744851], [77745071, 77745212], [77746165, 77746271], [77746363, 77746423], [77746734, 77746806], [77750139, 77750216], [77751292, 77751384], [77751823, 77751975], [77753086, 77753165], [77755104, 77755174], [77757656, 77757723], [77762506, 77762616], [77765031, 77765114], [77765797, 77767506]] None
ENST00000452340 [[77741300, 77743824], [77744736, 77744851], [77745071, 77746271], [77746363, 77746423], [77746734, 77746806], [77750139, 77750216], [77751292, 77751384], [77751823, 77751975], [77753086, 77753165], [77755104, 77755174], [77757656, 77757723], [77762506, 77762616], [77765031, 77765114], [77765797, 77765904], [77767432, 77767592], [77769177, 77769286], [77771034, 77771143], [77772679, 77772784], [77778291, 77778376], [77786776, 77787047]] None
ENST00000602717 [[77743325, 77743621], [77744736, 77744851], [77745071, 77745212], [77746165, 77746275]] None
ENST00000556394 [[77743333, 77743824], [77744736, 77744851], [77746165, 77746252]] [[77743718, 77743824], [77744736, 77744851], [77746165, 77746252]]
ENST00000555710 [[77743757, 77743824], [77744736, 77744851], [77745071, 77745304], [77746165, 77746271], [77746363, 77746417]] [[77745236, 77745304], [77746165, 77746271], [77746363, 77746417]]
ENST00000556446 [[77744628, 77744851], [77745071, 77745404]] None
ENST00000556171 [[77745115, 77745212], [77745879, 77745929], [77746026, 77746271], [77746363, 77746423], [77746734, 77746806], [77750139, 77750195]] [[77745115, 77745212], [77745879, 77745929], [77746026, 77746271], [77746363, 77746423], [77746734, 77746806], [77750139, 77750195]]
ENST00000555134 [[77745155, 77745212], [77745879, 77746271], [77746363, 77746423], [77746734, 77746806], [77750139, 77750216], [77751292, 77751384], [77751823, 77751946]] None
ENST00000554564 [[77746648, 77746806], [77750139, 77750706]] None
ENST00000554884 [[77751311, 77751384], [77751823, 77751975], [77753086, 77753165], [77753922, 77754167]] None
ENST00000553880 [[77751623, 77751975], [77753086, 77753165], [77755104, 77755174], [77757656, 77757710]] None
ENST00000557675 [[77751822, 77751975], [77753086, 77753165], [77755104, 77755174], [77757656, 77757723], [77762506, 77762616], [77762754, 77762850]] None
ENST00000556404 [[77751909, 77751975], [77753086, 77753552]] None
ENST00000556851 [[77753090, 77753165], [77753575, 77753614], [77755104, 77755174], [77757656, 77757836]] None
ENST00000557289 [[77762506, 77762616], [77765031, 77765114], [77765797, 77765904], [77771034, 77771089]] [[77765800, 77765904], [77771034, 77771089]]
ENST00000553863 [[77765820, 77765904], [77767432, 77767592], [77769177, 77769286], [77771034, 77771143], [77772744, 77772846]] None
ENST00000556326 [[77765866, 77765904], [77767432, 77767592], [77769177, 77769286], [77771034, 77771143], [77772679, 77772784], [77786776, 77787203]] [[77772783, 77772784], [77786776, 77787024]]
ENST00000555675 [[77767431, 77767592], [77769177, 77769286], [77771034, 77771143], [77772679, 77772833]] None
ENST00000554948 [[77767564, 77767592], [77769177, 77769286], [77771034, 77771143], [77772679, 77772784], [77778291, 77778376], [77785842, 77785938], [77786650, 77786683]] [[77767564, 77767592], [77769177, 77769286], [77771034, 77771143], [77772679, 77772784], [77778291, 77778351]]
ENST00000556880 [[77769176, 77769286], [77771034, 77771143], [77772588, 77772784], [77772974, 77773240]] None
ENST00000555788 [[77771036, 77771143], [77772588, 77772784], [77778291, 77778376], [77778640, 77778722]] None
ENST00000557525 [[77771115, 77771143], [77772679, 77772784], [77778291, 77778376], [77778640, 77778978]] None
NM_013382 [[77741298, 77743824], [77744736, 77744851], [77745071, 77745212], [77746165, 77746271], [77746363, 77746423], [77746734, 77746806], [77750139, 77750216], [77751292, 77751384], [77751823, 77751975], [77753086, 77753165], [77755104, 77755174], [77757656, 77757723], [77762506, 77762616], [77765031, 77765114], [77765797, 77765904], [77767432, 77767592], [77769177, 77769286], [77771034, 77771143], [77772679, 77772784], [77778291, 77778376], [77786776, 77787225]] [[77743718, 77743824], [77744736, 77744851], [77745071, 77745212], [77746165, 77746271], [77746363, 77746423], [77746734, 77746806], [77750139, 77750216], [77751292, 77751384], [77751823, 77751975], [77753086, 77753165], [77755104, 77755174], [77757656, 77757723], [77762506, 77762616], [77765031, 77765114], [77765797, 77765904], [77767432, 77767592], [77769177, 77769286], [77771034, 77771143], [77772679, 77772784], [77778291, 77778376], [77786776, 77787024]]
Promoter
Chrom Start End Description
chr14 77772837 77772851 CAGE_peak_6_at_POMT2_5end
chr14 77787124 77787135 CAGE_peak_4_at_POMT2_5end
chr14 77787156 77787168 CAGE_peak_3_at_POMT2_5end
chr14 77787177 77787190 CAGE_peak_2_at_POMT2_5end
chr14 77787198 77787244 CAGE_peak_1_at_POMT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I077565 77565001 77566600 1.05 [{'connected_gene': 'SPTLC2', 'score': 16.59}, {'connected_gene': 'POMT2', 'score': 9.96}, {'connected_gene': 'GSTZ1', 'score': 9.96}, {'connected_gene': 'SNW1', 'score': 2.46}, {'connected_gene': 'RN7SL587P', 'score': 0.37}]
chr14 GH14I077096 77096274 77100655 2.3 [{'connected_gene': 'CIPC', 'score': 556.91}, {'connected_gene': 'ENSG00000259164', 'score': 550.77}, {'connected_gene': 'GC14M077096', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 36.28}, {'connected_gene': 'VIPAS39', 'score': 35.65}, {'connected_gene': 'ZMYND19P1', 'score': 25.8}, {'connected_gene': 'RPL22P2', 'score': 25.54}, {'connected_gene': 'ALKBH1', 'score': 24.46}, {'connected_gene': 'IRF2BPL', 'score': 23.56}, {'connected_gene': 'GPATCH2L', 'score': 22.56}, {'connected_gene': 'RPL21P10', 'score': 11.91}, {'connected_gene': 'POMT2', 'score': 10.9}, {'connected_gene': 'LINC02288', 'score': 4.73}, {'connected_gene': 'PIR36428', 'score': 0.39}]
chr14 GH14I077021 77021582 77047176 3.06 [{'connected_gene': 'IRF2BPL', 'score': 577.43}, {'connected_gene': 'LOC105370579', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 32.59}, {'connected_gene': 'ALKBH1', 'score': 32.3}, {'connected_gene': 'RPL22P2', 'score': 31.25}, {'connected_gene': 'VIPAS39', 'score': 29.63}, {'connected_gene': 'POMT2', 'score': 29.33}, {'connected_gene': 'ZMYND19P1', 'score': 27.18}, {'connected_gene': 'GPATCH2L', 'score': 22.24}, {'connected_gene': 'RPL21P10', 'score': 20.39}, {'connected_gene': 'CIPC', 'score': 13.7}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'LINC02288', 'score': 8.25}, {'connected_gene': 'TMEM63C', 'score': 1.88}, {'connected_gene': 'VASH1', 'score': 1.72}, {'connected_gene': 'TMED8', 'score': 1.21}, {'connected_gene': 'LRRC74A', 'score': 1.11}, {'connected_gene': 'GC14P077024', 'score': 0.44}, {'connected_gene': 'ENSG00000273729', 'score': 0.44}, {'connected_gene': 'GC14P077023', 'score': 0.39}]
chr14 GH14I077301 77301832 77308334 1.39 [{'connected_gene': 'VIPAS39', 'score': 24.31}, {'connected_gene': 'IRF2BPL', 'score': 16.36}, {'connected_gene': 'GSTZ1', 'score': 15.6}, {'connected_gene': 'ALKBH1', 'score': 13.09}, {'connected_gene': 'NGB', 'score': 11.62}, {'connected_gene': 'MIR1260A', 'score': 11.22}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'SAMD15', 'score': 10.85}, {'connected_gene': 'TMED8', 'score': 10.85}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'SNW1', 'score': 10.45}, {'connected_gene': 'RPL21P10', 'score': 10.32}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'POMT2', 'score': 6.49}, {'connected_gene': 'SPTLC2', 'score': 4.43}, {'connected_gene': 'PIR44060', 'score': 0.77}]
chr14 GH14I076767 76767379 76769592 1.23 [{'connected_gene': 'VIPAS39', 'score': 47.73}, {'connected_gene': 'SNW1', 'score': 37.99}, {'connected_gene': 'ALKBH1', 'score': 37.6}, {'connected_gene': 'ZMYND19P1', 'score': 36.1}, {'connected_gene': 'GPATCH2L', 'score': 33.25}, {'connected_gene': 'RPL22P2', 'score': 32.55}, {'connected_gene': 'IRF2BPL', 'score': 24.3}, {'connected_gene': 'RPL21P10', 'score': 20.19}, {'connected_gene': 'POMT2', 'score': 19.55}, {'connected_gene': 'ENSG00000259081', 'score': 16.72}, {'connected_gene': 'VASH1', 'score': 11.56}, {'connected_gene': 'IFT43', 'score': 10.29}, {'connected_gene': 'NGB', 'score': 9.8}, {'connected_gene': 'ENSG00000258610', 'score': 0.39}]
chr14 GH14I077551 77551679 77552743 0.49 [{'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.61}, {'connected_gene': 'GSTZ1', 'score': 10.61}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'TMED8', 'score': 10.06}, {'connected_gene': 'SAMD15', 'score': 10.06}, {'connected_gene': 'SPTLC2', 'score': 9.43}, {'connected_gene': 'RN7SL587P', 'score': 0.77}]
chr14 GH14I077552 77551458 77551607 0.74 [{'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.61}, {'connected_gene': 'GSTZ1', 'score': 10.61}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'TMED8', 'score': 10.06}, {'connected_gene': 'SAMD15', 'score': 10.06}, {'connected_gene': 'SPTLC2', 'score': 9.41}, {'connected_gene': 'RN7SL587P', 'score': 0.77}]
chr14 GH14I077157 77157961 77159105 1.18 [{'connected_gene': 'TMEM63C', 'score': 17.29}, {'connected_gene': 'POMT2', 'score': 13.28}, {'connected_gene': 'ENSG00000201384', 'score': 11.54}, {'connected_gene': 'NGB', 'score': 10.8}, {'connected_gene': 'NOXRED1', 'score': 10.08}, {'connected_gene': 'SNW1', 'score': 9.96}, {'connected_gene': 'ZDHHC22', 'score': 0.39}, {'connected_gene': 'FAM204DP', 'score': 0.37}, {'connected_gene': 'ENSG00000259164', 'score': 0.21}]
chr14 GH14I077308 77308498 77312342 0.49 [{'connected_gene': 'POMT2', 'score': 13.44}, {'connected_gene': 'NGB', 'score': 11.43}, {'connected_gene': 'TMED8', 'score': 10.86}, {'connected_gene': 'SAMD15', 'score': 10.86}, {'connected_gene': 'ENSG00000201384', 'score': 10.7}, {'connected_gene': 'TMEM63C', 'score': 10.48}, {'connected_gene': 'GSTZ1', 'score': 8.63}, {'connected_gene': 'PIR44060', 'score': 0.44}]
chr14 GH14I077561 77561888 77564268 0.51 [{'connected_gene': 'POMT2', 'score': 9.79}, {'connected_gene': 'GSTZ1', 'score': 9.79}, {'connected_gene': 'SPTLC2', 'score': 6.28}, {'connected_gene': 'NOXRED1', 'score': 4.59}, {'connected_gene': 'RN7SL587P', 'score': 0.37}]
chr14 GH14I077296 77296133 77297241 0.69 [{'connected_gene': 'GSTZ1', 'score': 23.4}, {'connected_gene': 'POMT2', 'score': 18.15}, {'connected_gene': 'NGB', 'score': 12.0}, {'connected_gene': 'MIR1260A', 'score': 11.54}, {'connected_gene': 'ZDHHC22', 'score': 11.28}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'VIPAS39', 'score': 10.52}, {'connected_gene': 'AHSA1', 'score': 10.52}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'TMEM63C', 'score': 4.87}, {'connected_gene': 'PIR44060', 'score': 0.44}, {'connected_gene': 'PIR56307', 'score': 0.34}]
chr14 GH14I077299 77299452 77301807 0.92 [{'connected_gene': 'GSTZ1', 'score': 24.52}, {'connected_gene': 'POMT2', 'score': 18.14}, {'connected_gene': 'NGB', 'score': 11.64}, {'connected_gene': 'MIR1260A', 'score': 11.24}, {'connected_gene': 'ZDHHC22', 'score': 10.99}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'VIPAS39', 'score': 10.53}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'PIR44060', 'score': 0.77}, {'connected_gene': 'PIR56307', 'score': 0.34}]
chr14 GH14I077319 77319382 77322767 2.22 [{'connected_gene': 'GSTZ1', 'score': 567.95}, {'connected_gene': 'POMT2', 'score': 556.75}, {'connected_gene': 'PIR54443', 'score': 550.77}, {'connected_gene': 'TMEM63C', 'score': 4.92}, {'connected_gene': 'PIR37736', 'score': 0.34}]
chr14 GH14I077371 77371287 77374562 1.02 [{'connected_gene': 'TMED8', 'score': 22.54}, {'connected_gene': 'POMT2', 'score': 21.25}, {'connected_gene': 'GSTZ1', 'score': 21.22}, {'connected_gene': 'ENSG00000259081', 'score': 11.04}, {'connected_gene': 'AHSA1', 'score': 10.66}, {'connected_gene': 'VIPAS39', 'score': 10.65}, {'connected_gene': 'SAMD15', 'score': 0.77}, {'connected_gene': 'LOC100422225', 'score': 0.39}]
chr14 GH14I077281 77281343 77283130 0.51 [{'connected_gene': 'TMED8', 'score': 8.16}, {'connected_gene': 'POMT2', 'score': 5.69}, {'connected_gene': 'PIR56307', 'score': 0.44}, {'connected_gene': 'PIR44060', 'score': 0.34}]
chr14 GH14I077312 77312625 77318317 1.5 [{'connected_gene': 'TMED8', 'score': 23.4}, {'connected_gene': 'GSTZ1', 'score': 17.58}, {'connected_gene': 'NGB', 'score': 11.05}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.7}, {'connected_gene': 'SAMD15', 'score': 10.69}, {'connected_gene': 'VIPAS39', 'score': 10.42}, {'connected_gene': 'AHSA1', 'score': 10.42}, {'connected_gene': 'TMEM63C', 'score': 10.0}, {'connected_gene': 'POMT2', 'score': 6.19}, {'connected_gene': 'PIR44060', 'score': 0.39}]
chr14 GH14I076760 76760678 76763401 1.97 [{'connected_gene': 'VASH1', 'score': 550.77}, {'connected_gene': 'ENSG00000258569', 'score': 550.77}, {'connected_gene': 'POMT2', 'score': 12.31}, {'connected_gene': 'IFT43', 'score': 11.19}, {'connected_gene': 'ENSG00000258610', 'score': 0.37}]
chr14 GH14I077406 77406601 77408000 0.96 [{'connected_gene': 'SAMD15', 'score': 33.29}, {'connected_gene': 'TMED8', 'score': 24.13}, {'connected_gene': 'VIPAS39', 'score': 11.24}, {'connected_gene': 'AHSA1', 'score': 11.24}, {'connected_gene': 'POMT2', 'score': 11.22}, {'connected_gene': 'GSTZ1', 'score': 11.22}, {'connected_gene': 'GC14M077403', 'score': 0.77}, {'connected_gene': 'NOXRED1', 'score': 0.37}]
chr14 GH14I077548 77548703 77550079 0.4 [{'connected_gene': 'RN7SL587P', 'score': 550.77}, {'connected_gene': 'TMED8', 'score': 16.16}, {'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.62}, {'connected_gene': 'GSTZ1', 'score': 10.62}, {'connected_gene': 'SAMD15', 'score': 10.42}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'SPTLC2', 'score': 7.57}]
chr14 GH14I077359 77359896 77359948 0.22 [{'connected_gene': 'LOC100422225', 'score': 550.77}, {'connected_gene': 'TMED8', 'score': 22.69}, {'connected_gene': 'POMT2', 'score': 11.39}, {'connected_gene': 'GSTZ1', 'score': 11.39}, {'connected_gene': 'VIPAS39', 'score': 10.63}, {'connected_gene': 'AHSA1', 'score': 10.63}, {'connected_gene': 'SAMD15', 'score': 0.37}]
chr14 GH14I077104 77104205 77105971 0.63 [{'connected_gene': 'ENSG00000201384', 'score': 10.2}, {'connected_gene': 'POMT2', 'score': 10.02}, {'connected_gene': 'GSTZ1', 'score': 10.02}, {'connected_gene': 'NGB', 'score': 9.16}, {'connected_gene': 'CIPC', 'score': 6.76}, {'connected_gene': 'PIR36428', 'score': 0.77}, {'connected_gene': 'ENSG00000259164', 'score': 0.44}]
chr14 GH14I077106 77106472 77107471 0.2 [{'connected_gene': 'ENSG00000201384', 'score': 10.84}, {'connected_gene': 'POMT2', 'score': 10.03}, {'connected_gene': 'GSTZ1', 'score': 10.03}, {'connected_gene': 'NGB', 'score': 9.69}, {'connected_gene': 'LINC02288', 'score': 4.86}, {'connected_gene': 'PIR36428', 'score': 0.77}, {'connected_gene': 'ENSG00000259164', 'score': 0.44}, {'connected_gene': 'CIPC', 'score': 0.44}]

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