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
ENST00000250572 [[6887576, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940470]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
ENST00000381407 [[6887581, 6887650], [6890491, 6890554], [6896408, 6896552], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940451]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
ENST00000312053 [[6887582, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940470]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
ENST00000450315 [[6887587, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897462], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940445]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897462], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
ENST00000381404 [[6887589, 6887650], [6890491, 6890554], [6896408, 6896552], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928321], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940462]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928321], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
ENST00000601198 [[6891160, 6891237], [6896408, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6901966]] None
ENST00000596944 [[6896389, 6896552], [6897159, 6897315], [6897438, 6897936]] None
ENST00000595026 [[6896416, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6906443, 6906532], [6908699, 6908783], [6913663, 6913746]] [[6896416, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6906443, 6906532], [6908699, 6908783], [6913663, 6913746]]
NM_001256254 [[6887559, 6887650], [6890491, 6890554], [6896408, 6896552], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940464]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
NM_001256252 [[6887559, 6887650], [6890491, 6890554], [6896408, 6896552], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928321], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940464]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928321], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
NM_001256255 [[6887559, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897462], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940464]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897462], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
NM_001256253 [[6887559, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940464]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
NM_001974 [[6887559, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940464]] [[6887619, 6887650], [6890491, 6890554], [6896408, 6896552], [6897159, 6897315], [6897438, 6897558], [6901885, 6902032], [6903820, 6903961], [6904046, 6904193], [6906443, 6906532], [6908699, 6908783], [6913663, 6913841], [6916259, 6916379], [6919558, 6919758], [6921723, 6921894], [6924688, 6924883], [6926376, 6926612], [6928155, 6928222], [6934997, 6935089], [6937253, 6937422], [6937554, 6937659], [6940034, 6940040]]
Promoter
Chrom Start End Description
chr19 6887571 6887610 CAGE_peak_1_at_EMR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I006556 6556464 6556733 0.78 [{'connected_gene': 'TRIP10', 'score': 14.56}, {'connected_gene': 'ENSG00000269680', 'score': 11.43}, {'connected_gene': 'SAFB2', 'score': 10.32}, {'connected_gene': 'ADGRE1', 'score': 3.44}, {'connected_gene': 'TNFSF14', 'score': 2.39}, {'connected_gene': 'TNFSF9', 'score': 2.22}, {'connected_gene': 'RFX2', 'score': 1.78}, {'connected_gene': 'VAV1', 'score': 1.55}, {'connected_gene': 'LOC100421483', 'score': 0.77}, {'connected_gene': 'CLIC4P2', 'score': 0.44}]
chr19 GH19I006667 6667055 6670924 2.41 [{'connected_gene': 'TNFSF14', 'score': 557.17}, {'connected_gene': 'ACSBG2', 'score': 16.25}, {'connected_gene': 'ZNF557', 'score': 10.91}, {'connected_gene': 'GTF2F1', 'score': 10.85}, {'connected_gene': 'VAV1', 'score': 8.42}, {'connected_gene': 'DENND1C', 'score': 6.77}, {'connected_gene': 'ADGRE1', 'score': 2.87}, {'connected_gene': 'GPR108', 'score': 1.66}, {'connected_gene': 'GC19M006661', 'score': 0.44}]
chr19 GH19I006674 6674538 6675675 1.7 [{'connected_gene': 'TNFSF14', 'score': 51.55}, {'connected_gene': 'DENND1C', 'score': 14.97}, {'connected_gene': 'C3', 'score': 12.09}, {'connected_gene': 'GPR108', 'score': 12.07}, {'connected_gene': 'TRIP10', 'score': 12.07}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'ZNF557', 'score': 11.44}, {'connected_gene': 'DUS3L', 'score': 10.27}, {'connected_gene': 'KHSRP', 'score': 9.76}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'ADGRE1', 'score': 4.81}, {'connected_gene': 'VAV1', 'score': 2.93}, {'connected_gene': 'TNFSF9', 'score': 1.78}, {'connected_gene': 'GC19P006699', 'score': 0.34}]
chr19 GH19I006799 6799588 6804356 1.65 [{'connected_gene': 'KHSRP', 'score': 12.35}, {'connected_gene': 'ZNF557', 'score': 12.08}, {'connected_gene': 'XAB2', 'score': 11.91}, {'connected_gene': 'ENSG00000267571', 'score': 10.96}, {'connected_gene': 'ADGRE1', 'score': 8.68}, {'connected_gene': 'TNFSF14', 'score': 8.52}, {'connected_gene': 'VAV1', 'score': 6.97}, {'connected_gene': 'DENND1C', 'score': 3.41}, {'connected_gene': 'SH2D3A', 'score': 2.9}, {'connected_gene': 'GPR108', 'score': 2.21}, {'connected_gene': 'TNFSF9', 'score': 1.33}, {'connected_gene': 'GC19P006821', 'score': 0.37}]
chr19 GH19I006771 6771869 6774143 2.3 [{'connected_gene': 'VAV1', 'score': 558.7}, {'connected_gene': 'SH2D3A', 'score': 36.97}, {'connected_gene': 'XAB2', 'score': 28.32}, {'connected_gene': 'DUS3L', 'score': 24.62}, {'connected_gene': 'KHSRP', 'score': 23.01}, {'connected_gene': 'ZNF557', 'score': 16.83}, {'connected_gene': 'ENSG00000267571', 'score': 16.65}, {'connected_gene': 'VMAC', 'score': 13.23}, {'connected_gene': 'GPR108', 'score': 10.56}, {'connected_gene': 'DENND1C', 'score': 8.89}, {'connected_gene': 'ADGRE1', 'score': 3.23}, {'connected_gene': 'GC19P006821', 'score': 0.25}]
chr19 GH19I006861 6861591 6864319 1.24 [{'connected_gene': 'XAB2', 'score': 11.05}, {'connected_gene': 'ENSG00000267571', 'score': 10.62}, {'connected_gene': 'ADGRE1', 'score': 8.62}, {'connected_gene': 'GC19M006869', 'score': 0.44}, {'connected_gene': 'GC19P006821', 'score': 0.26}]
chr19 GH19I006925 6925759 6926575 0.83 [{'connected_gene': 'GPR108', 'score': 5.02}, {'connected_gene': 'ENSG00000276568', 'score': 0.77}, {'connected_gene': 'LOC105372256', 'score': 0.39}, {'connected_gene': 'PIR57511', 'score': 0.39}, {'connected_gene': 'ADGRE1', 'score': 0.28}]
chr19 GH19I007205 7205967 7216416 1.34 [{'connected_gene': 'ARHGEF18', 'score': 11.0}, {'connected_gene': 'INSR', 'score': 6.89}, {'connected_gene': 'SH2D3A', 'score': 5.58}, {'connected_gene': 'ADGRE1', 'score': 5.33}, {'connected_gene': 'TRIP10', 'score': 4.83}, {'connected_gene': 'GC19P007214', 'score': 0.77}, {'connected_gene': 'GC19P007151', 'score': 0.21}]
chr19 GH19I006876 6876601 6877200 0.31 [{'connected_gene': 'ADGRE1', 'score': 18.44}, {'connected_gene': 'KHSRP', 'score': 14.18}, {'connected_gene': 'XAB2', 'score': 12.55}, {'connected_gene': 'GC19P006870', 'score': 0.44}]
chr19 GH19I006890 6890078 6893111 1.21 [{'connected_gene': 'ADGRE1', 'score': 20.05}, {'connected_gene': 'ENSG00000269680', 'score': 5.06}, {'connected_gene': 'VAV1', 'score': 4.39}, {'connected_gene': 'GPR108', 'score': 2.31}, {'connected_gene': 'TNFSF14', 'score': 1.55}, {'connected_gene': 'DENND1C', 'score': 1.29}, {'connected_gene': 'ENSG00000280091', 'score': 0.44}, {'connected_gene': 'GC19P006870', 'score': 0.34}]
chr19 GH19I006886 6886263 6888800 1.27 [{'connected_gene': 'ADGRE1', 'score': 556.71}, {'connected_gene': 'ENSG00000269680', 'score': 7.63}, {'connected_gene': 'GC19P006870', 'score': 0.37}]
chr19 GH19I006867 6867801 6869399 0.49 [{'connected_gene': 'GC19M006869', 'score': 550.77}, {'connected_gene': 'GC19P006870', 'score': 550.77}, {'connected_gene': 'ADGRE1', 'score': 9.6}, {'connected_gene': 'GC19P006821', 'score': 0.25}]

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