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
ENST00000577830 [[55938603, 55940646], [55943834, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55963240], [56032585, 56032684]] [[55943837, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55962925]]
ENST00000407144 [[55940056, 55940646], [55943834, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55963172], [55969860, 55970049]] [[55943837, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55962925]]
ENST00000360238 [[55940336, 55940646], [55943834, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55963240], [55980346, 55980750]] [[55943837, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55962925]]
ENST00000577840 [[55940632, 55940646], [55943834, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [56032585, 56032618]] [[55943837, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957024]]
ENST00000584746 [[55938964, 55940646], [55943834, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948726]] None
ENST00000577422 [[55940235, 55940646], [55943834, 55943905], [55944601, 55944666]] None
ENST00000582951 [[55940235, 55940646], [55943834, 55943905], [55944717, 55944991]] None
ENST00000581391 [[55940235, 55940646], [55943834, 55943905], [55944717, 55944776], [55945510, 55945826]] None
ENST00000577497 [[55940323, 55940646], [55943834, 55944218]] None
ENST00000578357 [[55940323, 55940646], [55943834, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55947257, 55947299]] None
ENST00000581898 [[55940323, 55940646], [55943834, 55943905], [55948646, 55948730], [55950023, 55950031]] [[55943837, 55943905], [55948646, 55948730], [55950023, 55950031]]
ENST00000585294 [[55940336, 55940718], [55943834, 55943905], [55944717, 55944776]] [[55943837, 55943905], [55944717, 55944776]]
ENST00000577589 [[55950171, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55962802], [55963006, 55963198]] [[55950171, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55962775]]
NM_001292025 [[55938603, 55940646], [55943834, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55963240], [55980346, 55980750]] [[55943837, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55962925]]
NM_001271875 [[55938603, 55940646], [55943834, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55963240], [56032585, 56032684]] [[55943837, 55943905], [55944717, 55944776], [55945510, 55945604], [55946482, 55946554], [55948646, 55948730], [55950023, 55950216], [55950951, 55951078], [55956971, 55957099], [55962589, 55962925]]
Promoter
Chrom Start End Description
chr17 56032602 56032610 CAGE_peak_6_at_CUEDC1_5end
chr17 56032626 56032641 CAGE_peak_3_at_CUEDC1_5end
chr17 56032656 56032669 CAGE_peak_5_at_CUEDC1_5end
chr17 56032696 56032748 CAGE_peak_2_at_CUEDC1_5end
chr17 56032757 56032785 CAGE_peak_1_at_CUEDC1_5end
chr17 56032799 56032814 CAGE_peak_4_at_CUEDC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I057939 57939111 57944180 1.5 [{'connected_gene': 'EPX', 'score': 9.56}, {'connected_gene': 'CUEDC1', 'score': 0.39}, {'connected_gene': 'ENSG00000264914', 'score': 0.31}, {'connected_gene': 'GC17M057928', 'score': 0.07}]
chr17 GH17I057877 57877906 57883355 1.33 [{'connected_gene': 'SRSF1', 'score': 50.26}, {'connected_gene': 'MKS1', 'score': 49.26}, {'connected_gene': 'COIL', 'score': 25.16}, {'connected_gene': 'ENSG00000262298', 'score': 22.55}, {'connected_gene': 'CUEDC1', 'score': 18.11}, {'connected_gene': 'VEZF1', 'score': 13.77}, {'connected_gene': 'MRPS23', 'score': 12.01}, {'connected_gene': 'RAD51C', 'score': 10.68}, {'connected_gene': 'GC17P057856', 'score': 0.34}, {'connected_gene': 'ENSG00000264914', 'score': 0.29}]
chr17 GH17I057888 57888380 57896322 1.69 [{'connected_gene': 'SRSF1', 'score': 24.24}, {'connected_gene': 'CUEDC1', 'score': 18.88}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'MKS1', 'score': 10.96}, {'connected_gene': 'EPX', 'score': 9.76}, {'connected_gene': 'SUPT4H1', 'score': 2.44}, {'connected_gene': 'VEZF1', 'score': 1.39}, {'connected_gene': 'ENSG00000264914', 'score': 0.37}, {'connected_gene': 'GC17P057856', 'score': 0.28}]
chr17 GH17I057906 57906520 57907584 0.86 [{'connected_gene': 'SRSF1', 'score': 25.73}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'CUEDC1', 'score': 11.26}, {'connected_gene': 'MKS1', 'score': 10.97}, {'connected_gene': 'VEZF1', 'score': 4.93}, {'connected_gene': 'ENSG00000264914', 'score': 0.44}, {'connected_gene': 'GC17P057856', 'score': 0.23}]
chr17 GH17I057866 57866567 57871562 1.52 [{'connected_gene': 'SRSF1', 'score': 16.15}, {'connected_gene': 'CUEDC1', 'score': 15.77}, {'connected_gene': 'ENSG00000262298', 'score': 14.03}, {'connected_gene': 'MKS1', 'score': 11.04}, {'connected_gene': 'GC17P057856', 'score': 0.39}, {'connected_gene': 'ENSG00000264914', 'score': 0.26}]
chr17 GH17I057846 57846947 57847503 0.38 [{'connected_gene': 'SRSF1', 'score': 11.02}, {'connected_gene': 'CUEDC1', 'score': 10.31}, {'connected_gene': 'MRPS23', 'score': 0.77}, {'connected_gene': 'LOC105371839', 'score': 0.39}]
chr17 GH17I057845 57845028 57846476 0.31 [{'connected_gene': 'SRSF1', 'score': 11.02}, {'connected_gene': 'CUEDC1', 'score': 10.31}, {'connected_gene': 'MRPS23', 'score': 0.77}, {'connected_gene': 'LOC105371839', 'score': 0.44}]
chr17 GH17I057935 57934599 57938642 1.59 [{'connected_gene': 'MRPS23', 'score': 10.8}, {'connected_gene': 'EPX', 'score': 9.56}, {'connected_gene': 'MKS1', 'score': 4.89}, {'connected_gene': 'CUEDC1', 'score': 3.1}, {'connected_gene': 'ENSG00000264914', 'score': 0.34}, {'connected_gene': 'GC17M057928', 'score': 0.07}]
chr17 GH17I057848 57848693 57854714 2.34 [{'connected_gene': 'MRPS23', 'score': 555.5}, {'connected_gene': 'PIR35014', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 51.26}, {'connected_gene': 'MKS1', 'score': 39.93}, {'connected_gene': 'COIL', 'score': 18.36}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'VEZF1', 'score': 11.67}, {'connected_gene': 'CUEDC1', 'score': 10.32}, {'connected_gene': 'SUPT4H1', 'score': 4.75}, {'connected_gene': 'GC17P057856', 'score': 0.77}]
chr17 GH17I057860 57860400 57863852 1.61 [{'connected_gene': 'CUEDC1', 'score': 5.37}, {'connected_gene': 'SUPT4H1', 'score': 1.16}, {'connected_gene': 'GC17P057856', 'score': 0.44}, {'connected_gene': 'ENSG00000264914', 'score': 0.23}]
chr17 GH17I057897 57897797 57905999 2.19 [{'connected_gene': 'CUEDC1', 'score': 568.65}, {'connected_gene': 'SRSF1', 'score': 40.87}, {'connected_gene': 'ENSG00000262298', 'score': 26.13}, {'connected_gene': 'MKS1', 'score': 20.25}, {'connected_gene': 'EPX', 'score': 9.76}, {'connected_gene': 'VEZF1', 'score': 5.1}, {'connected_gene': 'ENSG00000263004', 'score': 4.98}, {'connected_gene': 'OR4D2', 'score': 3.18}, {'connected_gene': 'ENSG00000264914', 'score': 0.39}, {'connected_gene': 'GC17P057856', 'score': 0.25}]
chr17 GH17I057944 57944383 57956075 2.75 [{'connected_gene': 'CUEDC1', 'score': 557.85}, {'connected_gene': 'SRSF1', 'score': 31.45}, {'connected_gene': 'MKS1', 'score': 23.16}, {'connected_gene': 'ENSG00000264112', 'score': 6.93}, {'connected_gene': 'LOC101927666', 'score': 5.49}, {'connected_gene': 'SUPT4H1', 'score': 1.28}, {'connected_gene': 'ENSG00000278642', 'score': 0.44}, {'connected_gene': 'ENSG00000264914', 'score': 0.28}, {'connected_gene': 'GC17M057928', 'score': 0.07}]
chr17 GH17I057841 57841243 57842021 0.2 [{'connected_gene': 'CUEDC1', 'score': 10.67}, {'connected_gene': 'SRSF1', 'score': 10.52}, {'connected_gene': 'MRPS23', 'score': 5.84}, {'connected_gene': 'LOC105371839', 'score': 0.44}]
chr17 GH17I057840 57840256 57840902 0.2 [{'connected_gene': 'CUEDC1', 'score': 10.67}, {'connected_gene': 'SRSF1', 'score': 10.52}, {'connected_gene': 'MRPS23', 'score': 5.71}, {'connected_gene': 'LOC105371839', 'score': 0.77}]
chr17 GH17I057842 57842156 57843082 0.2 [{'connected_gene': 'CUEDC1', 'score': 10.67}, {'connected_gene': 'SRSF1', 'score': 10.51}, {'connected_gene': 'MRPS23', 'score': 4.92}, {'connected_gene': 'LOC105371839', 'score': 0.44}]
chr17 GH17I057843 57843380 57843956 0.2 [{'connected_gene': 'CUEDC1', 'score': 10.67}, {'connected_gene': 'SRSF1', 'score': 10.51}, {'connected_gene': 'MRPS23', 'score': 0.44}, {'connected_gene': 'LOC105371839', 'score': 0.44}]
chr17 GH17I057838 57838346 57840155 1.1 [{'connected_gene': 'CUEDC1', 'score': 10.66}, {'connected_gene': 'SRSF1', 'score': 10.52}, {'connected_gene': 'MRPS23', 'score': 5.54}, {'connected_gene': 'LOC105371839', 'score': 0.77}]
chr17 GH17I057979 57979934 57981312 0.38 [{'connected_gene': 'CUEDC1', 'score': 11.87}, {'connected_gene': 'SRSF1', 'score': 10.46}, {'connected_gene': 'LOC101927666', 'score': 5.3}, {'connected_gene': 'VEZF1', 'score': 0.44}, {'connected_gene': 'GC17P057973', 'score': 0.44}, {'connected_gene': 'LOC101929185', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.08}]
chr17 GH17I057975 57975994 57977345 0.43 [{'connected_gene': 'CUEDC1', 'score': 12.14}, {'connected_gene': 'SRSF1', 'score': 10.44}, {'connected_gene': 'LOC101927666', 'score': 7.17}, {'connected_gene': 'VEZF1', 'score': 5.15}, {'connected_gene': 'GC17P057973', 'score': 0.77}, {'connected_gene': 'LOC101929185', 'score': 0.39}, {'connected_gene': 'GC17M057928', 'score': 0.08}]
chr17 GH17I057978 57978084 57979879 0.52 [{'connected_gene': 'CUEDC1', 'score': 11.89}, {'connected_gene': 'SRSF1', 'score': 10.46}, {'connected_gene': 'LOC101927666', 'score': 6.0}, {'connected_gene': 'VEZF1', 'score': 0.44}, {'connected_gene': 'GC17P057973', 'score': 0.44}, {'connected_gene': 'LOC101929185', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.08}]
chr17 GH17I057907 57907754 57908157 0.2 [{'connected_gene': 'CUEDC1', 'score': 11.26}, {'connected_gene': 'SRSF1', 'score': 9.76}, {'connected_gene': 'ENSG00000264914', 'score': 0.77}, {'connected_gene': 'GC17P057856', 'score': 0.23}]
chr17 GH17I057928 57928452 57932250 0.38 [{'connected_gene': 'CUEDC1', 'score': 12.35}, {'connected_gene': 'MKS1', 'score': 5.41}, {'connected_gene': 'ENSG00000264914', 'score': 0.37}, {'connected_gene': 'GC17M057928', 'score': 0.07}]
chr17 GH17I057924 57924199 57926668 0.69 [{'connected_gene': 'CUEDC1', 'score': 11.81}, {'connected_gene': 'MKS1', 'score': 4.96}, {'connected_gene': 'ENSG00000264914', 'score': 0.39}]
chr17 GH17I057920 57920683 57922817 0.92 [{'connected_gene': 'CUEDC1', 'score': 11.76}, {'connected_gene': 'MRPS23', 'score': 11.31}, {'connected_gene': 'VEZF1', 'score': 4.49}, {'connected_gene': 'ENSG00000264914', 'score': 0.44}]
chr17 GH17I057922 57922932 57923934 0.31 [{'connected_gene': 'CUEDC1', 'score': 12.24}, {'connected_gene': 'MRPS23', 'score': 11.31}, {'connected_gene': 'VEZF1', 'score': 4.56}, {'connected_gene': 'ENSG00000264914', 'score': 0.39}]
chr17 GH17I057872 57872601 57877531 1.72 [{'connected_gene': 'CUEDC1', 'score': 18.14}, {'connected_gene': 'MRPS23', 'score': 13.94}, {'connected_gene': 'MKS1', 'score': 4.0}, {'connected_gene': 'SRSF1', 'score': 2.84}, {'connected_gene': 'TSPOAP1', 'score': 1.39}, {'connected_gene': 'GC17P057856', 'score': 0.37}, {'connected_gene': 'ENSG00000264914', 'score': 0.28}]
chr17 GH17I057934 57933274 57934222 0.2 [{'connected_gene': 'CUEDC1', 'score': 12.35}, {'connected_gene': 'MRPS23', 'score': 10.81}, {'connected_gene': 'MKS1', 'score': 5.07}, {'connected_gene': 'ENSG00000264914', 'score': 0.34}, {'connected_gene': 'GC17M057928', 'score': 0.07}]
chr17 GH17I057919 57919354 57920632 0.2 [{'connected_gene': 'CUEDC1', 'score': 11.74}, {'connected_gene': 'MRPS23', 'score': 11.32}, {'connected_gene': 'ENSG00000264914', 'score': 0.44}]
chr17 GH17I057570 57570693 57572539 0.54 [{'connected_gene': 'CUEDC1', 'score': 5.25}, {'connected_gene': 'LOC101927539', 'score': 0.28}, {'connected_gene': 'ENSG00000280028', 'score': 0.28}, {'connected_gene': 'MSI2', 'score': 0.06}]
chr17 GH17I057857 57857980 57858405 1.23 [{'connected_gene': 'CUEDC1', 'score': 11.7}, {'connected_gene': 'GC17P057856', 'score': 0.77}, {'connected_gene': 'ENSG00000264914', 'score': 0.23}]
chr17 GH17I057933 57933137 57933196 0.7 [{'connected_gene': 'CUEDC1', 'score': 562.35}, {'connected_gene': 'ENSG00000264914', 'score': 0.34}, {'connected_gene': 'GC17M057928', 'score': 0.07}]
chr17 GH17I057863 57863990 57864912 0.49 [{'connected_gene': 'CUEDC1', 'score': 6.7}, {'connected_gene': 'GC17P057856', 'score': 0.44}, {'connected_gene': 'ENSG00000264914', 'score': 0.25}]
chr17 GH17I057926 57926702 57928199 1.22 [{'connected_gene': 'CUEDC1', 'score': 12.2}, {'connected_gene': 'ENSG00000264914', 'score': 0.37}]
chr17 GH17I057834 57834500 57834649 0.89 [{'connected_gene': 'LOC105371839', 'score': 550.77}, {'connected_gene': 'ENSG00000265542', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 26.05}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'CCDC182', 'score': 11.08}, {'connected_gene': 'MKS1', 'score': 10.96}, {'connected_gene': 'DYNLL2', 'score': 10.3}, {'connected_gene': 'AKAP1', 'score': 10.24}, {'connected_gene': 'CUEDC1', 'score': 10.0}, {'connected_gene': 'OR4D1', 'score': 9.77}, {'connected_gene': 'MSX2P1', 'score': 9.77}, {'connected_gene': 'GC17M057806', 'score': 0.34}]
chr17 GH17I057835 57835975 57838284 0.31 [{'connected_gene': 'LOC105371839', 'score': 550.77}, {'connected_gene': 'CCDC182', 'score': 11.08}, {'connected_gene': 'CUEDC1', 'score': 10.66}, {'connected_gene': 'SRSF1', 'score': 10.51}, {'connected_gene': 'DYNLL2', 'score': 10.3}, {'connected_gene': 'AKAP1', 'score': 10.24}, {'connected_gene': 'OR4D1', 'score': 9.77}, {'connected_gene': 'MSX2P1', 'score': 9.77}, {'connected_gene': 'MRPS23', 'score': 0.39}]
chr17 GH17I057836 57835440 57835589 0.85 [{'connected_gene': 'LOC105371839', 'score': 550.77}, {'connected_gene': 'ENSG00000265542', 'score': 550.77}, {'connected_gene': 'CCDC182', 'score': 11.08}, {'connected_gene': 'DYNLL2', 'score': 10.3}, {'connected_gene': 'AKAP1', 'score': 10.24}, {'connected_gene': 'SRSF1', 'score': 10.07}, {'connected_gene': 'CUEDC1', 'score': 10.0}, {'connected_gene': 'OR4D1', 'score': 9.77}, {'connected_gene': 'MSX2P1', 'score': 9.77}, {'connected_gene': 'MRPS23', 'score': 0.39}]
chr17 GH17I057911 57911225 57913075 1.12 [{'connected_gene': 'ENSG00000264914', 'score': 550.77}, {'connected_gene': 'VEZF1', 'score': 4.92}, {'connected_gene': 'CUEDC1', 'score': 0.26}, {'connected_gene': 'GC17P057856', 'score': 0.22}]
chr17 GH17I057993 57993202 57996137 1.36 [{'connected_gene': 'ENSG00000264112', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 45.27}, {'connected_gene': 'MKS1', 'score': 20.71}, {'connected_gene': 'VEZF1', 'score': 14.87}, {'connected_gene': 'CUEDC1', 'score': 11.91}, {'connected_gene': 'MRPS23', 'score': 11.61}, {'connected_gene': 'LOC101927666', 'score': 6.02}, {'connected_gene': 'ENSG00000266086', 'score': 0.39}, {'connected_gene': 'GC17M057928', 'score': 0.09}]
chr17 GH17I057832 57832134 57834399 1.34 [{'connected_gene': 'ENSG00000265542', 'score': 556.28}, {'connected_gene': 'SRSF1', 'score': 26.05}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'CCDC182', 'score': 11.08}, {'connected_gene': 'MKS1', 'score': 10.96}, {'connected_gene': 'DYNLL2', 'score': 10.3}, {'connected_gene': 'AKAP1', 'score': 10.24}, {'connected_gene': 'CUEDC1', 'score': 10.0}, {'connected_gene': 'OR4D1', 'score': 9.77}, {'connected_gene': 'MSX2P1', 'score': 9.77}, {'connected_gene': 'LOC105371839', 'score': 0.77}, {'connected_gene': 'GC17M057806', 'score': 0.37}]
chr17 GH17I057856 57856584 57857739 0.86 [{'connected_gene': 'GC17P057856', 'score': 550.77}, {'connected_gene': 'CUEDC1', 'score': 11.7}, {'connected_gene': 'SRSF1', 'score': 10.98}, {'connected_gene': 'ENSG00000264914', 'score': 0.22}]
chr17 GH17I057855 57855363 57856263 1.09 [{'connected_gene': 'GC17P057856', 'score': 550.77}, {'connected_gene': 'CUEDC1', 'score': 11.03}, {'connected_gene': 'SRSF1', 'score': 10.97}, {'connected_gene': 'PIR35014', 'score': 0.77}]
chr17 GH17I057956 57956400 57956589 0.92 [{'connected_gene': 'ENSG00000278642', 'score': 550.77}, {'connected_gene': 'CUEDC1', 'score': 550.77}, {'connected_gene': 'GC17P057973', 'score': 0.37}, {'connected_gene': 'GC17M057928', 'score': 0.07}]
chr17 GH17I057908 57908276 57908707 0.31 [{'connected_gene': 'ENSG00000264914', 'score': 0.77}, {'connected_gene': 'CUEDC1', 'score': 0.25}, {'connected_gene': 'GC17P057856', 'score': 0.23}]
chr17 GH17I057913 57913472 57913934 0.63 [{'connected_gene': 'ENSG00000264914', 'score': 550.77}, {'connected_gene': 'CUEDC1', 'score': 0.26}]
chr17 GH17I057909 57909116 57910158 0.31 [{'connected_gene': 'ENSG00000264914', 'score': 0.77}, {'connected_gene': 'CUEDC1', 'score': 0.25}, {'connected_gene': 'GC17P057856', 'score': 0.23}]
chr17 GH17I057915 57915040 57919044 1.22 [{'connected_gene': 'ENSG00000264914', 'score': 0.77}, {'connected_gene': 'CUEDC1', 'score': 0.28}]
chr17 GH17I057914 57914380 57914991 0.43 [{'connected_gene': 'ENSG00000264914', 'score': 0.77}, {'connected_gene': 'CUEDC1', 'score': 0.26}]

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