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
ENST00000370968 [[52761436, 52761726], [52762622, 52762754], [52764731, 52764873], [52767143, 52767276], [52768473, 52768525], [52774438, 52774464]] [[52761603, 52761726], [52762622, 52762754], [52764731, 52764873], [52767143, 52767265]]
ENST00000211122 [[52761436, 52761726], [52762622, 52762754], [52764731, 52764873], [52767143, 52767276], [52768473, 52768525], [52770545, 52770653], [52774438, 52774483]] [[52761603, 52761726], [52762622, 52762754], [52764731, 52764873], [52767143, 52767276], [52768473, 52768525], [52770545, 52770632]]
ENST00000431899 [[52762639, 52762707], [52764738, 52764873], [52767143, 52767276], [52770545, 52770620]] [[52762639, 52762707], [52764738, 52764873], [52767143, 52767265]]
NM_000847 [[52761436, 52761726], [52762622, 52762754], [52764731, 52764873], [52767143, 52767276], [52768473, 52768525], [52770545, 52770653], [52774438, 52774496]] [[52761603, 52761726], [52762622, 52762754], [52764731, 52764873], [52767143, 52767276], [52768473, 52768525], [52770545, 52770632]]
Promoter
Chrom Start End Description
chr6 52774478 52774499 CAGE_peak_1_at_GSTA3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I052918 52918027 52921410 0.88 [{'connected_gene': 'GSTA4', 'score': 8.47}, {'connected_gene': 'GSTA3', 'score': 7.15}, {'connected_gene': 'LRRC1', 'score': 6.56}, {'connected_gene': 'GC06P052940', 'score': 0.34}]
chr6 GH06I052992 52992994 52997088 2.32 [{'connected_gene': 'GSTA4', 'score': 550.77}, {'connected_gene': 'RN7SK', 'score': 550.77}, {'connected_gene': 'GC06P052997', 'score': 550.77}, {'connected_gene': 'ENSG00000202198', 'score': 550.77}, {'connected_gene': 'EFHC1', 'score': 30.23}, {'connected_gene': 'MCM3', 'score': 30.11}, {'connected_gene': 'ICK', 'score': 16.24}, {'connected_gene': 'GSTA3', 'score': 10.15}, {'connected_gene': 'GC06P052982', 'score': 0.39}]
chr6 GH06I052928 52928903 52930370 1.09 [{'connected_gene': 'GSTA4', 'score': 6.96}, {'connected_gene': 'LINC01564', 'score': 4.84}, {'connected_gene': 'GC06P052940', 'score': 0.39}, {'connected_gene': 'GSTA3', 'score': 0.37}]
chr6 GH06I052728 52728403 52728552 0.46 [{'connected_gene': 'GSTA3', 'score': 4.92}, {'connected_gene': 'GSTA7P', 'score': 0.37}, {'connected_gene': 'PIR31960', 'score': 0.37}]
chr6 GH06I052903 52903970 52905063 0.52 [{'connected_gene': 'GSTA3', 'score': 7.05}, {'connected_gene': 'GSTA10P', 'score': 0.39}, {'connected_gene': 'LOC105375091', 'score': 0.34}]
chr6 GH06I052892 52892668 52896081 0.6 [{'connected_gene': 'GSTA3', 'score': 11.12}, {'connected_gene': 'GSTA4', 'score': 6.68}, {'connected_gene': 'GSTA10P', 'score': 0.77}, {'connected_gene': 'LOC105375091', 'score': 0.39}]
chr6 GH06I052908 52908081 52911211 0.99 [{'connected_gene': 'GSTA3', 'score': 550.77}, {'connected_gene': 'GSTA4', 'score': 8.18}, {'connected_gene': 'GSTA10P', 'score': 0.37}]
chr6 GH06I052942 52942203 52942799 0.2 [{'connected_gene': 'GSTA3', 'score': 12.22}, {'connected_gene': 'GSTA4', 'score': 6.88}, {'connected_gene': 'GC06P052940', 'score': 0.77}, {'connected_gene': 'GC06P052954', 'score': 0.39}, {'connected_gene': 'GSTA9P', 'score': 0.37}]
chr6 GH06I053040 53040580 53044964 1.12 [{'connected_gene': 'GSTA3', 'score': 9.99}, {'connected_gene': 'ICK', 'score': 5.45}, {'connected_gene': 'LRRC1', 'score': 4.06}, {'connected_gene': 'FBXO9', 'score': 0.44}, {'connected_gene': 'GC06P053034', 'score': 0.44}]
chr6 GH06I052856 52856013 52856895 0.71 [{'connected_gene': 'GSTA1', 'score': 13.57}, {'connected_gene': 'GSTA3', 'score': 10.63}, {'connected_gene': 'ICK', 'score': 10.56}, {'connected_gene': 'GSTA7P', 'score': 6.55}, {'connected_gene': 'GC06P052867', 'score': 0.44}, {'connected_gene': 'GSTA11P', 'score': 0.39}, {'connected_gene': 'GSTA5', 'score': 0.39}]
chr6 GH06I052723 52723441 52727000 1.43 [{'connected_gene': 'TMEM14A', 'score': 17.92}, {'connected_gene': 'LOC730101', 'score': 8.39}, {'connected_gene': 'GSTA3', 'score': 4.78}, {'connected_gene': 'GSTA7P', 'score': 0.37}, {'connected_gene': 'PIR31960', 'score': 0.37}]
chr6 GH06I053064 53064283 53069499 2.48 [{'connected_gene': 'FBXO9', 'score': 550.39}, {'connected_gene': 'MCM3', 'score': 21.65}, {'connected_gene': 'EFHC1', 'score': 12.99}, {'connected_gene': 'GSTA3', 'score': 9.95}, {'connected_gene': 'ICK', 'score': 5.0}, {'connected_gene': 'GC06P053085', 'score': 0.37}]
chr6 GH06I053054 53054035 53063285 2.27 [{'connected_gene': 'ICK', 'score': 550.77}, {'connected_gene': 'MCM3', 'score': 15.89}, {'connected_gene': 'TRAM2', 'score': 10.66}, {'connected_gene': 'GSTA3', 'score': 9.76}, {'connected_gene': 'FBXO9', 'score': 0.44}]
chr6 GH06I053022 53022419 53027405 0.38 [{'connected_gene': 'ICK', 'score': 16.54}, {'connected_gene': 'FBXO9', 'score': 11.87}, {'connected_gene': 'GSTA3', 'score': 10.18}, {'connected_gene': 'GC06P053016', 'score': 0.44}, {'connected_gene': 'GC06P053034', 'score': 0.44}]
chr6 GH06I052975 52975777 52977822 0.49 [{'connected_gene': 'GSTA9P', 'score': 12.27}, {'connected_gene': 'ICK', 'score': 10.79}, {'connected_gene': 'GSTA3', 'score': 10.73}, {'connected_gene': 'GC06M052979', 'score': 0.77}]
chr6 GH06I052814 52814947 52815926 1.05 [{'connected_gene': 'PIR38149', 'score': 550.77}, {'connected_gene': 'GSTA6P', 'score': 550.77}, {'connected_gene': 'GSTA1', 'score': 15.82}, {'connected_gene': 'GSTA3', 'score': 11.0}, {'connected_gene': 'ICK', 'score': 10.52}]
chr6 GH06I052877 52877303 52877492 0.6 [{'connected_gene': 'GC06P052876', 'score': 550.77}, {'connected_gene': 'GSTA3', 'score': 11.09}, {'connected_gene': 'KLHL31', 'score': 6.96}, {'connected_gene': 'LOC105375091', 'score': 0.77}, {'connected_gene': 'GSTA10P', 'score': 0.39}]
chr6 GH06I052876 52876503 52876652 0.6 [{'connected_gene': 'GC06P052876', 'score': 550.77}, {'connected_gene': 'GSTA3', 'score': 11.95}, {'connected_gene': 'LOC105375091', 'score': 0.44}, {'connected_gene': 'GSTA10P', 'score': 0.39}]
chr6 GH06I052926 52926363 52926512 0.31 [{'connected_gene': 'GC06P052940', 'score': 0.39}, {'connected_gene': 'GSTA3', 'score': 0.37}]
chr6 GH06I052927 52926523 52926567 0.31 [{'connected_gene': 'GC06P052940', 'score': 0.39}, {'connected_gene': 'GSTA3', 'score': 0.37}]
chr6 GH06I052984 52984201 52984600 0.77 [{'connected_gene': 'GC06P052982', 'score': 550.77}, {'connected_gene': 'GSTA9P', 'score': 10.69}, {'connected_gene': 'GSTA3', 'score': 10.47}, {'connected_gene': 'GSTA4', 'score': 0.39}]