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
ENST00000222803 [[30050202, 30054509], [30058611, 30058739], [30062280, 30062432], [30065927, 30066300]] [[30054350, 30054509], [30058611, 30058739], [30062280, 30062432], [30065927, 30066124]]
ENST00000419018 [[30053903, 30054509], [30058611, 30058739], [30065927, 30066278]] [[30058735, 30058739], [30065927, 30066124]]
ENST00000412494 [[30054286, 30054509], [30058611, 30058739], [30059828, 30059920], [30062280, 30062432], [30065927, 30066035]] [[30059912, 30059920], [30062280, 30062432], [30065927, 30066035]]
ENST00000479939 [[30062006, 30062432], [30065927, 30066252]] None
NR_046478 [[30050198, 30054509], [30058611, 30058739], [30059828, 30059920], [30062280, 30062432], [30065927, 30066417]] None
NM_017946 [[30050198, 30054509], [30058611, 30058739], [30062280, 30062432], [30065927, 30066417]] [[30054350, 30054509], [30058611, 30058739], [30062280, 30062432], [30065927, 30066124]]
NR_046479 [[30050198, 30054509], [30058611, 30058739], [30065927, 30066417]] None
Promoter
Chrom Start End Description
chr7 30066233 30066332 CAGE_peak_1_at_FKBP14_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I029975 29975380 29975439 0.61 [{'connected_gene': 'SCRN1', 'score': 550.39}, {'connected_gene': 'PLEKHA8', 'score': 11.61}, {'connected_gene': 'FKBP14', 'score': 11.61}, {'connected_gene': 'ENSG00000238906', 'score': 10.25}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'LOC105375215', 'score': 0.39}]
chr7 GH07I029956 29956064 29956600 0.91 [{'connected_gene': 'SCRN1', 'score': 12.63}, {'connected_gene': 'LOC105375215', 'score': 12.63}, {'connected_gene': 'PLEKHA8', 'score': 11.12}, {'connected_gene': 'FKBP14', 'score': 11.12}, {'connected_gene': 'ENSG00000238906', 'score': 11.02}, {'connected_gene': 'ENSG00000231519', 'score': 10.59}, {'connected_gene': 'PIR51591', 'score': 0.39}, {'connected_gene': 'PIR47202', 'score': 0.28}]
chr7 GH07I030025 30025338 30030661 2.09 [{'connected_gene': 'PLEKHA8', 'score': 567.82}, {'connected_gene': 'FKBP14', 'score': 550.77}, {'connected_gene': 'SCRN1', 'score': 22.4}, {'connected_gene': 'ENSG00000226874', 'score': 11.78}, {'connected_gene': 'ENSG00000263683', 'score': 11.74}, {'connected_gene': 'LOC105375215', 'score': 11.19}, {'connected_gene': 'DKFZP586I1420', 'score': 10.19}, {'connected_gene': 'ENSG00000231519', 'score': 0.25}]
chr7 GH07I029977 29977658 29978236 0.31 [{'connected_gene': 'PLEKHA8', 'score': 11.28}, {'connected_gene': 'FKBP14', 'score': 11.28}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'LOC105375215', 'score': 0.44}, {'connected_gene': 'SCRN1', 'score': 0.39}]
chr7 GH07I030232 30232475 30232756 0.24 [{'connected_gene': 'PLEKHA8', 'score': 10.04}, {'connected_gene': 'FKBP14', 'score': 10.04}, {'connected_gene': 'NOD1', 'score': 9.9}, {'connected_gene': 'ZNRF2', 'score': 5.59}, {'connected_gene': 'GC07M030247', 'score': 0.37}, {'connected_gene': 'LOC105375217', 'score': 0.25}]
chr7 GH07I029619 29619837 29620082 0.68 [{'connected_gene': 'PRR15', 'score': 18.06}, {'connected_gene': 'PLEKHA8', 'score': 13.88}, {'connected_gene': 'ENSG00000264520', 'score': 13.44}, {'connected_gene': 'FKBP14', 'score': 13.09}, {'connected_gene': 'ENSG00000223813', 'score': 10.8}, {'connected_gene': 'ENSG00000226874', 'score': 9.72}, {'connected_gene': 'ZNRF2P2', 'score': 4.72}, {'connected_gene': 'TMSB4XP3', 'score': 0.44}]
chr7 GH07I029976 29976271 29977200 0.69 [{'connected_gene': 'MTURN', 'score': 14.12}, {'connected_gene': 'PLEKHA8', 'score': 11.61}, {'connected_gene': 'FKBP14', 'score': 11.61}, {'connected_gene': 'ENSG00000238906', 'score': 10.25}, {'connected_gene': 'ENSG00000223813', 'score': 7.76}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'SCRN1', 'score': 0.39}, {'connected_gene': 'LOC105375215', 'score': 0.39}]
chr7 GH07I030067 30067861 30069047 0.46 [{'connected_gene': 'MTURN', 'score': 13.61}, {'connected_gene': 'PLEKHA8', 'score': 10.84}, {'connected_gene': 'FKBP14', 'score': 10.84}, {'connected_gene': 'SCRN1', 'score': 10.65}, {'connected_gene': 'LOC105375215', 'score': 10.64}, {'connected_gene': 'ENSG00000231519', 'score': 0.44}]
chr7 GH07I029193 29193446 29196771 2.32 [{'connected_gene': 'CHN2', 'score': 563.79}, {'connected_gene': 'GC07M029191', 'score': 550.77}, {'connected_gene': 'CPVL', 'score': 550.77}, {'connected_gene': 'FKBP14', 'score': 10.89}, {'connected_gene': 'PLEKHA8', 'score': 10.33}]
chr7 GH07I030726 30726391 30728203 1.04 [{'connected_gene': 'LOC105375219', 'score': 550.77}, {'connected_gene': 'CRHR2', 'score': 27.64}, {'connected_gene': 'ENSG00000264520', 'score': 22.61}, {'connected_gene': 'PLEKHA8', 'score': 21.81}, {'connected_gene': 'FKBP14', 'score': 13.07}, {'connected_gene': 'ENSG00000226874', 'score': 9.78}, {'connected_gene': 'ENSG00000223419', 'score': 0.37}, {'connected_gene': 'LOC105375220', 'score': 0.31}, {'connected_gene': 'INMT', 'score': 0.31}]
chr7 GH07I029953 29953384 29954420 0.31 [{'connected_gene': 'LOC105375215', 'score': 12.63}, {'connected_gene': 'SCRN1', 'score': 12.61}, {'connected_gene': 'MTURN', 'score': 11.4}, {'connected_gene': 'PLEKHA8', 'score': 11.12}, {'connected_gene': 'FKBP14', 'score': 11.12}, {'connected_gene': 'ENSG00000238906', 'score': 11.02}, {'connected_gene': 'ENSG00000231519', 'score': 10.59}, {'connected_gene': 'PIR51591', 'score': 0.37}, {'connected_gene': 'PIR47202', 'score': 0.28}]
chr7 GH07I029722 29722621 29724177 1.06 [{'connected_gene': 'NOD1', 'score': 15.26}, {'connected_gene': 'ENSG00000226874', 'score': 11.93}, {'connected_gene': 'PLEKHA8', 'score': 10.55}, {'connected_gene': 'FKBP14', 'score': 9.71}, {'connected_gene': 'LOC101928208', 'score': 0.77}, {'connected_gene': 'DPY19L2P3', 'score': 0.19}, {'connected_gene': 'WIPF3', 'score': 0.18}]
chr7 GH07I029684 29684000 29686264 1.36 [{'connected_gene': 'ZNRF2P2', 'score': 569.6}, {'connected_gene': 'LOC646762', 'score': 550.77}, {'connected_gene': 'ENSG00000223813', 'score': 16.51}, {'connected_gene': 'DPY19L2P3', 'score': 13.17}, {'connected_gene': 'FKBP14', 'score': 13.08}, {'connected_gene': 'ENSG00000264520', 'score': 10.84}, {'connected_gene': 'PLEKHA8', 'score': 10.37}, {'connected_gene': 'PRR15', 'score': 6.34}, {'connected_gene': 'MIR550A3', 'score': 0.77}]
chr7 GH07I030023 30023401 30023600 0.54 [{'connected_gene': 'RPS27P16', 'score': 15.82}, {'connected_gene': 'MTURN', 'score': 14.15}, {'connected_gene': 'FKBP14', 'score': 0.77}, {'connected_gene': 'SCRN1', 'score': 0.29}, {'connected_gene': 'LOC105375215', 'score': 0.28}]
chr7 GH07I029968 29968437 29969307 0.38 [{'connected_gene': 'PIR51591', 'score': 550.77}, {'connected_gene': 'SCRN1', 'score': 12.57}, {'connected_gene': 'PLEKHA8', 'score': 11.6}, {'connected_gene': 'FKBP14', 'score': 11.6}, {'connected_gene': 'ENSG00000238906', 'score': 10.84}, {'connected_gene': 'PIR47202', 'score': 0.23}]
chr7 GH07I029883 29883530 29885025 0.69 [{'connected_gene': 'ENSG00000238906', 'score': 11.87}, {'connected_gene': 'ENSG00000231519', 'score': 10.21}, {'connected_gene': 'PLEKHA8', 'score': 9.91}, {'connected_gene': 'FKBP14', 'score': 9.91}, {'connected_gene': 'GC07P029912', 'score': 0.31}, {'connected_gene': 'WIPF3', 'score': 0.18}]
chr7 GH07I029881 29881865 29882087 0.31 [{'connected_gene': 'ENSG00000238906', 'score': 11.85}, {'connected_gene': 'ENSG00000231519', 'score': 10.21}, {'connected_gene': 'PLEKHA8', 'score': 9.91}, {'connected_gene': 'FKBP14', 'score': 9.91}, {'connected_gene': 'GC07P029912', 'score': 0.29}, {'connected_gene': 'WIPF3', 'score': 0.18}]
chr7 GH07I030116 30116377 30117684 0.71 [{'connected_gene': 'ENSG00000283618', 'score': 550.77}, {'connected_gene': 'PLEKHA8', 'score': 20.92}, {'connected_gene': 'ENSG00000231519', 'score': 11.06}, {'connected_gene': 'FKBP14', 'score': 10.37}, {'connected_gene': 'LOC105375216', 'score': 0.37}]
chr7 GH07I030593 30593344 30598963 2.31 [{'connected_gene': 'ENSG00000196295', 'score': 622.52}, {'connected_gene': 'GARS', 'score': 550.77}, {'connected_gene': 'GC07M030589', 'score': 550.77}, {'connected_gene': 'ZNRF2P2', 'score': 15.84}, {'connected_gene': 'ENSG00000244480', 'score': 13.74}, {'connected_gene': 'FKBP14', 'score': 13.06}, {'connected_gene': 'ENSG00000264520', 'score': 11.01}, {'connected_gene': 'PLEKHA8', 'score': 10.34}, {'connected_gene': 'CRHR2', 'score': 5.01}, {'connected_gene': 'PIR57163', 'score': 0.77}]
chr7 GH07I030520 30520069 30528011 1.06 [{'connected_gene': 'ENSG00000264520', 'score': 565.28}, {'connected_gene': 'ENSG00000244480', 'score': 555.45}, {'connected_gene': 'ENSG00000196295', 'score': 50.58}, {'connected_gene': 'NOD1', 'score': 11.15}, {'connected_gene': 'FKBP14', 'score': 10.9}, {'connected_gene': 'PLEKHA8', 'score': 10.34}, {'connected_gene': 'LOC100287825', 'score': 0.44}, {'connected_gene': 'GGCT', 'score': 0.37}, {'connected_gene': 'ENSG00000281039', 'score': 0.31}]