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
ENST00000350082 [[52866076, 52870101], [52871112, 52871235], [52874236, 52874365], [52876566, 52876715], [52876834, 52877025], [52878459, 52878780], [52880880, 52881048], [52883127, 52883299], [52884024, 52884157], [52895862, 52895942], [52897330, 52897452], [52902736, 52902791], [52905933, 52906206], [52926393, 52926568]] [[52869946, 52870101], [52871112, 52871235], [52874236, 52874365], [52876566, 52876715], [52876834, 52877025], [52878459, 52878780], [52880880, 52881048], [52883127, 52883299], [52884024, 52884157], [52895862, 52895942], [52897330, 52897452], [52902736, 52902791], [52905933, 52906034]]
ENST00000356971 [[52866108, 52870101], [52871112, 52871235], [52874236, 52874365], [52876566, 52876715], [52876834, 52877025], [52878459, 52878780], [52880880, 52881048], [52883127, 52883299], [52884024, 52884157], [52895862, 52895942], [52897330, 52897452], [52902736, 52902791], [52905933, 52906206], [52925733, 52925844], [52926393, 52926600]] [[52869946, 52870101], [52871112, 52871235], [52874236, 52874365], [52876566, 52876715], [52876834, 52877025], [52878459, 52878780], [52880880, 52881048], [52883127, 52883299], [52884024, 52884157], [52895862, 52895942], [52897330, 52897452], [52902736, 52902791], [52905933, 52906034]]
NM_016513 [[52866097, 52870101], [52871112, 52871235], [52874236, 52874365], [52876566, 52876715], [52876834, 52877025], [52878459, 52878780], [52880880, 52881048], [52883127, 52883299], [52884024, 52884157], [52895862, 52895942], [52897330, 52897452], [52902736, 52902791], [52905933, 52906206], [52925733, 52925844], [52926393, 52926600]] [[52869946, 52870101], [52871112, 52871235], [52874236, 52874365], [52876566, 52876715], [52876834, 52877025], [52878459, 52878780], [52880880, 52881048], [52883127, 52883299], [52884024, 52884157], [52895862, 52895942], [52897330, 52897452], [52902736, 52902791], [52905933, 52906034]]
NM_014920 [[52866097, 52870101], [52871112, 52871235], [52874236, 52874365], [52876566, 52876715], [52876834, 52877025], [52878459, 52878780], [52880880, 52881048], [52883127, 52883299], [52884024, 52884157], [52895862, 52895942], [52897330, 52897452], [52902736, 52902791], [52905933, 52906206], [52926393, 52926600]] [[52869946, 52870101], [52871112, 52871235], [52874236, 52874365], [52876566, 52876715], [52876834, 52877025], [52878459, 52878780], [52880880, 52881048], [52883127, 52883299], [52884024, 52884157], [52895862, 52895942], [52897330, 52897452], [52902736, 52902791], [52905933, 52906034]]
Promoter
Chrom Start End Description
chr6 52926476 52926500 CAGE_peak_2_at_ICK_5end
chr6 52926514 52926530 CAGE_peak_3_at_ICK_5end
chr6 52926539 52926668 CAGE_peak_1_at_ICK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I052407 52407523 52407672 0.63 [{'connected_gene': 'TRAM2', 'score': 10.3}, {'connected_gene': 'TRAM2-AS1', 'score': 10.3}, {'connected_gene': 'ICK', 'score': 9.67}, {'connected_gene': 'PAQR8', 'score': 4.27}, {'connected_gene': 'PIR61259', 'score': 0.77}, {'connected_gene': 'EFHC1', 'score': 0.25}, {'connected_gene': 'PIR35463', 'score': 0.25}]
chr6 GH06I052410 52410552 52411597 0.4 [{'connected_gene': 'TRAM2', 'score': 10.3}, {'connected_gene': 'TRAM2-AS1', 'score': 10.3}, {'connected_gene': 'ICK', 'score': 9.67}, {'connected_gene': 'PAQR8', 'score': 4.92}, {'connected_gene': 'PIR61259', 'score': 0.44}, {'connected_gene': 'PIR35463', 'score': 0.26}, {'connected_gene': 'EFHC1', 'score': 0.25}]
chr6 GH06I053119 53119044 53120832 1.1 [{'connected_gene': 'GCM1', 'score': 12.26}, {'connected_gene': 'RNU6-464P', 'score': 12.24}, {'connected_gene': 'ENSG00000218713', 'score': 11.31}, {'connected_gene': 'ICK', 'score': 5.2}, {'connected_gene': 'ENSG00000261745', 'score': 0.44}, {'connected_gene': 'PIR53393', 'score': 0.31}]
chr6 GH06I052663 52663164 52665624 1.53 [{'connected_gene': 'LOC730101', 'score': 573.2}, {'connected_gene': 'MCM3', 'score': 19.25}, {'connected_gene': 'EFHC1', 'score': 12.51}, {'connected_gene': 'TRAM2', 'score': 11.59}, {'connected_gene': 'TRAM2-AS1', 'score': 11.59}, {'connected_gene': 'ICK', 'score': 9.97}, {'connected_gene': 'TMEM14A', 'score': 7.14}, {'connected_gene': 'GC06P052657', 'score': 0.44}]
chr6 GH06I052412 52412408 52414439 0.46 [{'connected_gene': 'MCM3', 'score': 18.28}, {'connected_gene': 'PAQR8', 'score': 16.21}, {'connected_gene': 'TRAM2', 'score': 11.21}, {'connected_gene': 'TRAM2-AS1', 'score': 11.21}, {'connected_gene': 'TMEM14A', 'score': 10.67}, {'connected_gene': 'ICK', 'score': 9.67}, {'connected_gene': 'PIR61259', 'score': 0.44}, {'connected_gene': 'PIR35463', 'score': 0.28}, {'connected_gene': 'EFHC1', 'score': 0.23}]
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 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 GH06I052672 52672563 52672732 0.69 [{'connected_gene': 'TMEM14A', 'score': 550.77}, {'connected_gene': 'EFHC1', 'score': 10.9}, {'connected_gene': 'ICK', 'score': 9.59}, {'connected_gene': 'ENSG00000271227', '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 GH06I053009 53009627 53016741 0.92 [{'connected_gene': 'ICK', 'score': 15.8}, {'connected_gene': 'FBXO9', 'score': 11.24}, {'connected_gene': 'GC06P053016', 'score': 0.77}, {'connected_gene': 'RN7SK', 'score': 0.37}, {'connected_gene': 'ENSG00000202198', 'score': 0.37}]
chr6 GH06I053087 53087432 53087705 0.22 [{'connected_gene': 'ICK', 'score': 10.19}, {'connected_gene': 'GC06M053079', 'score': 0.77}, {'connected_gene': 'GC06P053085', 'score': 0.77}, {'connected_gene': 'FBXO9', 'score': 0.28}]
chr6 GH06I053047 53047536 53049734 1.18 [{'connected_gene': 'ICK', 'score': 5.54}, {'connected_gene': 'FBXO9', 'score': 0.77}, {'connected_gene': 'GC06P053034', 'score': 0.39}]
chr6 GH06I053031 53031393 53032060 0.2 [{'connected_gene': 'ICK', 'score': 15.67}, {'connected_gene': 'GC06P053034', 'score': 0.77}, {'connected_gene': 'GC06P053016', 'score': 0.37}]
chr6 GH06I053028 53028199 53029934 0.31 [{'connected_gene': 'ICK', 'score': 10.96}, {'connected_gene': 'GC06P053034', 'score': 0.44}, {'connected_gene': 'GC06P053016', 'score': 0.39}]
chr6 GH06I053111 53111877 53113672 0.78 [{'connected_gene': 'ICK', 'score': 14.1}, {'connected_gene': 'ENSG00000261745', 'score': 0.39}, {'connected_gene': 'PIR53393', 'score': 0.37}]
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 GH06I053032 53032468 53036419 0.92 [{'connected_gene': 'GC06P053034', 'score': 550.77}, {'connected_gene': 'ICK', 'score': 16.77}, {'connected_gene': 'FBXO9', 'score': 0.37}]
chr6 GH06I053019 53019693 53021043 0.98 [{'connected_gene': 'GC06P053016', 'score': 0.77}, {'connected_gene': 'GC06P053034', 'score': 0.39}, {'connected_gene': 'ICK', 'score': 0.26}]