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
ENST00000605275 [[34638129, 34638337], [34646673, 34647143]] None
ENST00000468099 [[34646629, 34646783], [34647117, 34647514]] None
ENST00000554550 [[34646632, 34646783], [34647085, 34647255], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34650526]] [[34646701, 34646783], [34647085, 34647255], [34647828, 34647831]]
ENST00000450095 [[34646632, 34646783], [34647085, 34647255], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34650526]] [[34647205, 34647255], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34650446]]
ENST00000473506 [[34646634, 34646783], [34647085, 34647255], [34647537, 34647564], [34647653, 34647702], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891]] [[34646701, 34646783], [34647085, 34647255], [34647537, 34647564], [34647653, 34647702], [34647828, 34647863]]
ENST00000557541 [[34646641, 34646916], [34647085, 34647255], [34647537, 34647564], [34647653, 34647702], [34647828, 34647902]] None
ENST00000554139 [[34646648, 34646783], [34647085, 34647255], [34647488, 34647564], [34647653, 34647958], [34648044, 34648168], [34648330, 34648378]] None
ENST00000473529 [[34646654, 34646783], [34647085, 34647255], [34647488, 34647702], [34647828, 34647958], [34648088, 34648168], [34648330, 34648453], [34648758, 34648825]] None
ENST00000378842 [[34646659, 34646783], [34647085, 34647255], [34647488, 34647564], [34647653, 34647702], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34651032]] [[34646701, 34646783], [34647085, 34647255], [34647488, 34647564], [34647653, 34647702], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34650446]]
ENST00000472111 [[34646660, 34646783], [34647085, 34647255], [34647488, 34647958], [34648111, 34648168], [34648330, 34648483]] None
ENST00000465543 [[34646664, 34647255], [34647488, 34647564], [34647653, 34647702], [34647828, 34647958], [34648111, 34648168]] None
ENST00000554897 [[34646671, 34646783], [34647085, 34647255], [34647828, 34647958], [34648044, 34648168], [34648330, 34648372]] [[34646701, 34646783], [34647085, 34647255], [34647828, 34647831]]
ENST00000554944 [[34646671, 34646783], [34647085, 34647255], [34647537, 34648168], [34648330, 34648386]] None
ENST00000489643 [[34646671, 34646783], [34647085, 34647255], [34648111, 34648168], [34648330, 34648891], [34648994, 34650113]] None
ENST00000555020 [[34646671, 34646783], [34647085, 34647255], [34647488, 34647564], [34647653, 34647958], [34648111, 34648168], [34648330, 34648891], [34648994, 34650279]] None
ENST00000554085 [[34646673, 34646783], [34647085, 34647255], [34647471, 34647564], [34647653, 34647702], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649019]] [[34646701, 34646783], [34647085, 34647255], [34647471, 34647492]]
ENST00000487381 [[34646675, 34646783], [34647085, 34647564], [34647653, 34647958], [34648111, 34648168], [34648330, 34648823]] None
ENST00000554638 [[34646677, 34646783], [34647085, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34650546]] None
ENST00000555214 [[34646692, 34646783], [34647085, 34647255], [34648044, 34648168], [34648330, 34648634]] None
ENST00000556403 [[34646769, 34646864], [34647085, 34647255], [34647488, 34647791]] None
ENST00000555086 [[34646778, 34646864], [34647085, 34647255], [34647488, 34647564], [34647653, 34647702], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34649127]] None
ENST00000554330 [[34646785, 34646864], [34647085, 34647255], [34647537, 34647846]] None
ENST00000556494 [[34646802, 34646916], [34647085, 34647255], [34647488, 34647702], [34647828, 34647958], [34648111, 34648168], [34648330, 34648509]] None
ENST00000485531 [[34646841, 34646916], [34647085, 34648168], [34648330, 34648373]] None
ENST00000557706 [[34646889, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648904], [34648994, 34649078], [34649406, 34649561], [34650365, 34650559]] None
ENST00000556157 [[34646896, 34647255], [34647471, 34647564], [34647653, 34647759]] None
ENST00000556244 [[34647119, 34647255], [34647385, 34647564], [34647653, 34647702], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891]] [[34647119, 34647255], [34647385, 34647427]]
ENST00000555754 [[34648421, 34648453], [34648758, 34649078], [34649406, 34649561], [34650365, 34650585]] None
ENST00000488412 [[34648918, 34649561], [34650365, 34650580]] None
NM_001258332 [[34646585, 34646783], [34647085, 34647255], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34650595]] [[34647205, 34647255], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34650446]]
NM_000155 [[34646585, 34646783], [34647085, 34647255], [34647488, 34647564], [34647653, 34647702], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34650595]] [[34646701, 34646783], [34647085, 34647255], [34647488, 34647564], [34647653, 34647702], [34647828, 34647958], [34648111, 34648168], [34648330, 34648453], [34648758, 34648891], [34648994, 34649078], [34649406, 34649561], [34650365, 34650446]]
Promoter
Chrom Start End Description
chr9 34646432 34646449 CAGE_peak_16_at_GALT_5end
chr9 34646599 34646613 CAGE_peak_6_at_GALT_5end
chr9 34646624 34646649 CAGE_peak_2_at_GALT_5end
chr9 34646651 34646689 CAGE_peak_1_at_GALT_5end
chr9 34646871 34646882 CAGE_peak_7_at_GALT_5end
chr9 34647078 34647100 CAGE_peak_4_at_GALT_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I034709 34709695 34710503 0.7 [{'connected_gene': 'CCL21', 'score': 550.77}, {'connected_gene': 'FAM205BP', 'score': 11.87}, {'connected_gene': 'IL11RA', 'score': 10.95}, {'connected_gene': 'GALT', 'score': 10.92}, {'connected_gene': 'RPP25L', 'score': 5.46}, {'connected_gene': 'FAM205A', 'score': 5.06}, {'connected_gene': 'CCL19', 'score': 0.37}]
chr9 GH09I034650 34650775 34655613 2.21 [{'connected_gene': 'IL11RA', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 18.52}, {'connected_gene': 'ENSG00000230074', 'score': 17.04}, {'connected_gene': 'ENSG00000258728', 'score': 0.44}, {'connected_gene': 'CCL27', 'score': 0.39}]
chr9 GH09I033799 33799479 33800789 0.2 [{'connected_gene': 'NUDT2', 'score': 5.41}, {'connected_gene': 'GALT', 'score': 4.21}, {'connected_gene': 'GC09P034201', 'score': 0.39}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.37}, {'connected_gene': 'UBE2R2', 'score': 0.37}]
chr9 GH09I034430 34430863 34431012 0.52 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034431 34431083 34431232 0.59 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034645 34645955 34648591 2.06 [{'connected_gene': 'GALT', 'score': 568.66}, {'connected_gene': 'ENSG00000258728', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 11.18}, {'connected_gene': 'DCTN3', 'score': 11.12}, {'connected_gene': 'ENSG00000228352', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 5.74}, {'connected_gene': 'IL11RA', 'score': 0.77}]
chr9 GH09I034573 34573699 34575506 0.2 [{'connected_gene': 'GALT', 'score': 23.49}, {'connected_gene': 'ENSG00000232983', 'score': 13.56}, {'connected_gene': 'RPP25L', 'score': 11.62}, {'connected_gene': 'ENHO', 'score': 11.17}, {'connected_gene': 'ENSG00000230729', 'score': 11.0}, {'connected_gene': 'DCTN3', 'score': 10.42}, {'connected_gene': 'ARID3C', 'score': 10.4}, {'connected_gene': 'SIGMAR1', 'score': 10.37}, {'connected_gene': 'NUDT2', 'score': 4.49}, {'connected_gene': 'GC09P034579', 'score': 0.77}, {'connected_gene': 'CNTFR-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9 GH09I034606 34606698 34607725 0.57 [{'connected_gene': 'GALT', 'score': 16.04}, {'connected_gene': 'RPP25L', 'score': 13.58}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9 GH09I034571 34571523 34571672 0.2 [{'connected_gene': 'GALT', 'score': 9.66}, {'connected_gene': 'LOC105376023', 'score': 0.77}, {'connected_gene': 'CNTFR-AS1', 'score': 0.77}, {'connected_gene': 'GC09P034579', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9 GH09I034636 34636627 34638973 2.01 [{'connected_gene': 'GALT', 'score': 567.81}, {'connected_gene': 'SIGMAR1', 'score': 558.0}, {'connected_gene': 'PIGO', 'score': 24.29}, {'connected_gene': 'ENSG00000228352', 'score': 15.59}, {'connected_gene': 'ENSG00000230074', 'score': 14.5}, {'connected_gene': 'ARID3C', 'score': 0.44}]
chr9 GH09I034501 34501873 34502439 0.54 [{'connected_gene': 'FAM219A', 'score': 17.03}, {'connected_gene': 'ENSG00000232983', 'score': 12.14}, {'connected_gene': 'CNTFR-AS1', 'score': 12.08}, {'connected_gene': 'DNAI1', 'score': 11.35}, {'connected_gene': 'RPP25L', 'score': 10.43}, {'connected_gene': 'ARID3C', 'score': 10.24}, {'connected_gene': 'SIGMAR1', 'score': 10.23}, {'connected_gene': 'GALT', 'score': 10.23}, {'connected_gene': 'PIR54959', 'score': 0.39}, {'connected_gene': 'RN7SKP24', 'score': 0.34}]
chr9 GH09I034500 34500763 34500932 0.65 [{'connected_gene': 'FAM219A', 'score': 15.32}, {'connected_gene': 'ENSG00000230729', 'score': 11.66}, {'connected_gene': 'ENHO', 'score': 11.48}, {'connected_gene': 'DNAI1', 'score': 11.31}, {'connected_gene': 'ARID3C', 'score': 10.21}, {'connected_gene': 'SIGMAR1', 'score': 10.2}, {'connected_gene': 'GALT', 'score': 10.2}, {'connected_gene': 'PIR54959', 'score': 0.37}, {'connected_gene': 'RN7SKP24', 'score': 0.34}]
chr9 GH09I034437 34437463 34437632 0.62 [{'connected_gene': 'FAM219A', 'score': 12.3}, {'connected_gene': 'NUDT2', 'score': 11.53}, {'connected_gene': 'ENSG00000230729', 'score': 11.31}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.62}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.28}]
chr9 GH09I034558 34558214 34561309 0.77 [{'connected_gene': 'RPP25L', 'score': 9.49}, {'connected_gene': 'GALT', 'score': 7.74}, {'connected_gene': 'UBAP2', 'score': 4.94}, {'connected_gene': 'DNAJB5', 'score': 4.91}, {'connected_gene': 'GC09M034561', 'score': 0.77}, {'connected_gene': 'ENSG00000232983', 'score': 0.39}, {'connected_gene': 'CNTFR', 'score': 0.29}]
chr9 GH09I034610 34610877 34613339 1.96 [{'connected_gene': 'RPP25L', 'score': 560.55}, {'connected_gene': 'GALT', 'score': 15.13}, {'connected_gene': 'SIGMAR1', 'score': 7.14}, {'connected_gene': 'CNTFR', 'score': 0.34}]
chr9 GH09I034631 34630478 34630586 0.64 [{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'MYORG', 'score': 3.9}, {'connected_gene': 'GALT', 'score': 2.01}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9 GH09I034628 34628600 34629678 0.7 [{'connected_gene': 'ARID3C', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 15.28}, {'connected_gene': 'GALT', 'score': 11.82}, {'connected_gene': 'SIGMAR1', 'score': 0.44}]
chr9 GH09I034513 34513530 34514025 0.49 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'FAM219A', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'FANCG', 'score': 5.0}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.28}]
chr9 GH09I034511 34511223 34511372 0.2 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.2}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'RPP25L', 'score': 10.84}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034591 34590140 34590312 1.17 [{'connected_gene': 'CNTFR', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 4.73}, {'connected_gene': 'RPP25L', 'score': 0.34}]
chr9 GH09I034512 34512701 34513518 0.73 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034514 34512543 34512692 0.67 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'NUDT2', 'score': 5.81}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034662 34662238 34667286 2.41 [{'connected_gene': 'ENSG00000230074', 'score': 572.11}, {'connected_gene': 'LOC730098', 'score': 550.77}, {'connected_gene': 'ENSG00000261215', 'score': 550.77}, {'connected_gene': 'CCL27', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 16.08}, {'connected_gene': 'ENSG00000228352', 'score': 11.27}, {'connected_gene': 'RPP25L', 'score': 11.16}, {'connected_gene': 'ENSG00000231393', 'score': 10.49}, {'connected_gene': 'SIGMAR1', 'score': 4.78}]
chr9 GH09I034675 34675164 34675333 0.76 [{'connected_gene': 'PIR49106', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 20.95}, {'connected_gene': 'IL11RA', 'score': 12.11}, {'connected_gene': 'GALT', 'score': 12.05}, {'connected_gene': 'CCL21', 'score': 11.46}, {'connected_gene': 'ARID3C', 'score': 11.24}, {'connected_gene': 'LOC730098', 'score': 0.44}]
chr9 GH09I034548 34548003 34548212 0.73 [{'connected_gene': 'ENSG00000232983', 'score': 550.77}, {'connected_gene': 'NUDT2', 'score': 7.96}, {'connected_gene': 'GALT', 'score': 6.28}, {'connected_gene': 'RPP25L', 'score': 5.1}, {'connected_gene': 'GC09M034561', 'score': 0.37}]
chr9 GH09I034685 34685204 34687001 0.31 [{'connected_gene': 'ENSG00000230074', 'score': 22.51}, {'connected_gene': 'GALT', 'score': 15.84}, {'connected_gene': 'RPP25L', 'score': 12.41}, {'connected_gene': 'CCL19', 'score': 0.44}, {'connected_gene': 'PIR49106', 'score': 0.39}]
chr9 GH09I034575 34575665 34580790 0.77 [{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]
chr9 GH09I034642 34642265 34643522 0.38 [{'connected_gene': 'ENSG00000230074', 'score': 15.87}, {'connected_gene': 'ENSG00000258728', 'score': 0.77}, {'connected_gene': 'GALT', 'score': 0.77}]
chr9 GH09I034644 34644434 34645739 0.85 [{'connected_gene': 'ENSG00000258728', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 15.66}, {'connected_gene': 'GALT', 'score': 0.44}]

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