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
ENST00000377403 [[9294833, 9295125], [9304983, 9305620], [9307024, 9307142], [9322117, 9322387], [9323567, 9331396]] [[9304993, 9305620], [9307024, 9307142], [9322117, 9322387], [9323567, 9324928]]
ENST00000602477 [[9299902, 9300077], [9304983, 9305620], [9307024, 9307142], [9322117, 9322387], [9323567, 9327957]] [[9300054, 9300077], [9304983, 9305620], [9307024, 9307142], [9322117, 9322387], [9323567, 9324928]]
ENST00000495451 [[9325588, 9328096], [9331203, 9331396]] None
NM_004285 [[9294862, 9295125], [9304983, 9305620], [9307024, 9307142], [9322117, 9322387], [9323567, 9331396]] [[9304993, 9305620], [9307024, 9307142], [9322117, 9322387], [9323567, 9324928]]
NM_001282587 [[9299902, 9300077], [9304983, 9305620], [9307024, 9307142], [9322117, 9322387], [9323567, 9331396]] [[9300054, 9300077], [9304983, 9305620], [9307024, 9307142], [9322117, 9322387], [9323567, 9324928]]
Promoter
Chrom Start End Description
chr1 9294807 9294818 CAGE_peak_3_at_H6PD_5end
chr1 9294822 9294889 CAGE_peak_1_at_H6PD_5end
chr1 9294967 9294991 CAGE_peak_4_at_H6PD_5end
chr1 9299767 9299791 CAGE_peak_9_at_H6PD_5end
chr1 9299811 9299818 CAGE_peak_15_at_H6PD_5end
chr1 9299865 9299874 CAGE_peak_10_at_H6PD_5end
chr1 9299895 9299913 CAGE_peak_2_at_H6PD_5end
chr1 9299914 9299919 CAGE_peak_13_at_H6PD_5end
chr1 9299927 9299954 CAGE_peak_6_at_H6PD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I009232 9232812 9236150 2.51 [{'connected_gene': 'H6PD', 'score': 569.94}, {'connected_gene': 'GC01M009234', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 11.32}, {'connected_gene': 'SLC2A5', 'score': 7.34}, {'connected_gene': 'GC01P009203', 'score': 0.29}]
chr1 GH01I009237 9237717 9245937 2.09 [{'connected_gene': 'H6PD', 'score': 567.73}, {'connected_gene': 'GPR157', 'score': 11.44}, {'connected_gene': 'MIR34A', 'score': 11.11}, {'connected_gene': 'PIR53045', 'score': 0.34}]
chr1 GH01I009210 9210570 9212155 1.07 [{'connected_gene': 'H6PD', 'score': 16.87}, {'connected_gene': 'MIR34A', 'score': 11.65}, {'connected_gene': 'GPR157', 'score': 11.33}, {'connected_gene': 'LINC01759', 'score': 5.19}, {'connected_gene': 'GC01P009203', 'score': 0.44}, {'connected_gene': 'GC01M009234', 'score': 0.34}]
chr1 GH01I009207 9207100 9208252 0.85 [{'connected_gene': 'H6PD', 'score': 12.18}, {'connected_gene': 'MIR34A', 'score': 11.65}, {'connected_gene': 'GPR157', 'score': 11.34}, {'connected_gene': 'LINC01759', 'score': 5.19}, {'connected_gene': 'GC01P009203', 'score': 0.77}, {'connected_gene': 'GC01M009234', 'score': 0.31}]
chr1 GH01I009231 9231202 9232470 1.27 [{'connected_gene': 'H6PD', 'score': 18.27}, {'connected_gene': 'MIR34A', 'score': 11.45}, {'connected_gene': 'GPR157', 'score': 11.33}, {'connected_gene': 'GC01M009234', 'score': 0.77}, {'connected_gene': 'GC01P009203', 'score': 0.31}]
chr1 GH01I009257 9257073 9261027 0.66 [{'connected_gene': 'H6PD', 'score': 13.99}, {'connected_gene': 'MIR34A', 'score': 11.24}, {'connected_gene': 'GPR157', 'score': 11.0}, {'connected_gene': 'PIR53045', 'score': 0.44}]
chr1 GH01I009246 9246887 9252151 1.26 [{'connected_gene': 'H6PD', 'score': 18.48}, {'connected_gene': 'PIR53045', 'score': 0.37}]
chr1 GH01I009236 9236737 9237218 0.31 [{'connected_gene': 'H6PD', 'score': 0.77}, {'connected_gene': 'PIR53045', 'score': 0.31}]
chr1 GH01I009274 9274996 9276331 1.54 [{'connected_gene': 'SPSB1', 'score': 9.25}, {'connected_gene': 'H6PD', 'score': 6.64}, {'connected_gene': 'SLC25A33', 'score': 1.23}, {'connected_gene': 'PIR55180', 'score': 0.44}]
chr1 GH01I009278 9278402 9282232 1.2 [{'connected_gene': 'SPSB1', 'score': 6.92}, {'connected_gene': 'SLC2A5', 'score': 5.68}, {'connected_gene': 'H6PD', 'score': 5.27}, {'connected_gene': 'PIK3CD', 'score': 5.01}, {'connected_gene': 'PIR55180', 'score': 0.39}]
chr1 GH01I009153 9153596 9154970 0.31 [{'connected_gene': 'GPR157', 'score': 12.17}, {'connected_gene': 'H6PD', 'score': 10.96}, {'connected_gene': 'SLC2A5', 'score': 9.53}, {'connected_gene': 'MIR34A', 'score': 0.77}, {'connected_gene': 'GC01P009164', 'score': 0.44}, {'connected_gene': 'MIR34AHG', 'score': 0.26}]
chr1 GH01I009268 9268662 9270855 0.6 [{'connected_gene': 'GPR157', 'score': 10.9}, {'connected_gene': 'SPSB1', 'score': 6.88}, {'connected_gene': 'H6PD', 'score': 4.54}, {'connected_gene': 'PIR55180', 'score': 0.77}]
chr1 GH01I009225 9225061 9226126 0.43 [{'connected_gene': 'GPR157', 'score': 11.61}, {'connected_gene': 'MIR34A', 'score': 11.34}, {'connected_gene': 'H6PD', 'score': 8.12}, {'connected_gene': 'LINC01759', 'score': 4.62}, {'connected_gene': 'GC01M009234', 'score': 0.44}, {'connected_gene': 'GC01P009203', 'score': 0.34}]
chr1 GH01I009252 9252730 9254017 1.03 [{'connected_gene': 'MIR34A', 'score': 10.8}, {'connected_gene': 'PIR53045', 'score': 0.39}, {'connected_gene': 'H6PD', 'score': 0.37}]
chr1 GH01I009255 9255560 9256947 0.2 [{'connected_gene': 'MIR34A', 'score': 11.25}, {'connected_gene': 'GPR157', 'score': 11.0}, {'connected_gene': 'PIR53045', 'score': 0.44}, {'connected_gene': 'H6PD', 'score': 0.34}]
chr1 GH01I008869 8869872 8881708 2.65 [{'connected_gene': 'ENO1', 'score': 571.67}, {'connected_gene': 'LOC102724552', 'score': 36.56}, {'connected_gene': 'MIR34AHG', 'score': 19.43}, {'connected_gene': 'RERE', 'score': 14.91}, {'connected_gene': 'GPR157', 'score': 14.47}, {'connected_gene': 'CLSTN1', 'score': 12.12}, {'connected_gene': 'PIK3CD-AS2', 'score': 11.57}, {'connected_gene': 'SLC45A1', 'score': 9.89}, {'connected_gene': 'H6PD', 'score': 4.57}, {'connected_gene': 'ENO1-AS1', 'score': 0.77}, {'connected_gene': 'ENO1-IT1', 'score': 0.77}, {'connected_gene': 'MIR6728', 'score': 0.44}]
chr1 GH01I009262 9262792 9264965 0.38 [{'connected_gene': 'PIR53045', 'score': 550.77}, {'connected_gene': 'SPSB1', 'score': 12.54}, {'connected_gene': 'H6PD', 'score': 0.31}]
chr1 GH01I009266 9266843 9267402 1.06 [{'connected_gene': 'PIR55180', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 10.91}, {'connected_gene': 'H6PD', 'score': 7.07}, {'connected_gene': 'SPSB1', 'score': 0.31}]
chr1 GH01I009267 9266164 9266366 0.31 [{'connected_gene': 'PIR53045', 'score': 550.77}, {'connected_gene': 'PIR55180', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 10.91}, {'connected_gene': 'H6PD', 'score': 0.29}]
chr1 GH01I009200 9200300 9202805 1.15 [{'connected_gene': 'GC01P009203', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 11.26}, {'connected_gene': 'LZIC', 'score': 9.68}, {'connected_gene': 'H6PD', 'score': 4.72}, {'connected_gene': 'ENSG00000281937', 'score': 0.77}]
chr1 GH01I009162 9162041 9167156 1.72 [{'connected_gene': 'GC01M009163', 'score': 550.77}, {'connected_gene': 'GC01P009164', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 12.03}, {'connected_gene': 'SLC45A1', 'score': 11.34}, {'connected_gene': 'H6PD', 'score': 5.03}, {'connected_gene': 'LINC01759', 'score': 4.85}, {'connected_gene': 'SLC2A5', 'score': 4.48}, {'connected_gene': 'SPSB1', 'score': 1.99}, {'connected_gene': 'GC01M009171', 'score': 0.44}, {'connected_gene': 'MIR34AHG', 'score': 0.29}]