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
ENST00000374464 [[43633933, 43634015], [43650344, 43651258], [43654162, 43654379], [43655941, 43656043], [43657647, 43657669]] [[43650597, 43651258], [43654162, 43654379], [43655941, 43656043], [43657647, 43657669]]
ENST00000374466 [[43633933, 43634015], [43650344, 43651258], [43654162, 43654379], [43655941, 43656043], [43659313, 43659492], [43662451, 43662546], [43671398, 43671480], [43678697, 43680756]] [[43650597, 43651258], [43654162, 43654379], [43655941, 43656043], [43659313, 43659492], [43662451, 43662546], [43671398, 43671480], [43678697, 43678990]]
NM_018590 [[43633892, 43634015], [43650344, 43651258], [43654162, 43654379], [43655941, 43656043], [43659313, 43659492], [43662451, 43662546], [43671398, 43671480], [43678697, 43680756]] [[43650597, 43651258], [43654162, 43654379], [43655941, 43656043], [43659313, 43659492], [43662451, 43662546], [43671398, 43671480], [43678697, 43678990]]
NR_135077 [[43633892, 43634015], [43650344, 43651258], [43654162, 43654379], [43655941, 43656043], [43657647, 43657808], [43659313, 43659492], [43662451, 43662546], [43671398, 43671480], [43678697, 43680756]] None
NM_001319656 [[43650344, 43651258], [43654162, 43654379], [43655941, 43656043], [43671398, 43671480], [43678697, 43680756]] [[43650597, 43651258], [43654162, 43654379], [43655941, 43656043], [43671398, 43671447]]
NM_001319654 [[43650344, 43651258], [43654162, 43654379], [43655941, 43656043], [43659313, 43659492], [43671398, 43671480], [43678697, 43680756]] [[43650597, 43651258], [43654162, 43654379], [43655941, 43656043], [43659313, 43659492], [43671398, 43671480], [43678697, 43678707]]
Promoter
Chrom Start End Description
chr10 43633883 43633904 CAGE_peak_1_at_CSGALNACT2_5end
chr10 43633914 43633935 CAGE_peak_2_at_CSGALNACT2_5end
chr10 43633941 43633960 CAGE_peak_3_at_CSGALNACT2_5end
chr10 43633962 43633969 CAGE_peak_5_at_CSGALNACT2_5end
chr10 43633970 43633986 CAGE_peak_4_at_CSGALNACT2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I044010 44010646 44011847 0.94 [{'connected_gene': 'ZNF22', 'score': 4.66}, {'connected_gene': 'CSGALNACT2', 'score': 4.33}, {'connected_gene': 'PIR37397', 'score': 0.15}, {'connected_gene': 'ENSG00000237590', 'score': 0.07}]
chr10 GH10I042932 42932567 42934915 0.83 [{'connected_gene': 'RET', 'score': 11.51}, {'connected_gene': 'CSGALNACT2', 'score': 8.59}, {'connected_gene': 'LOC441666', 'score': 7.65}, {'connected_gene': 'ENSG00000259869', 'score': 6.57}, {'connected_gene': 'ZNF33B', 'score': 4.25}, {'connected_gene': 'GC10M042909', 'score': 0.34}, {'connected_gene': 'LINC01264', 'score': 0.25}]
chr10 GH10I043077 43076493 43076582 0.59 [{'connected_gene': 'RET', 'score': 550.77}, {'connected_gene': 'CSGALNACT2', 'score': 18.58}, {'connected_gene': 'GC10M043057', 'score': 0.37}]
chr10 GH10I043076 43076800 43077601 1.45 [{'connected_gene': 'RET', 'score': 550.77}, {'connected_gene': 'CSGALNACT2', 'score': 20.74}, {'connected_gene': 'PIR60596', 'score': 0.34}]
chr10 GH10I043104 43104593 43106142 1.72 [{'connected_gene': 'CSGALNACT2', 'score': 32.12}, {'connected_gene': 'RET', 'score': 12.77}, {'connected_gene': 'RASGEF1A', 'score': 6.32}, {'connected_gene': 'PIR60596', 'score': 0.77}, {'connected_gene': 'GC10M043121', 'score': 0.34}]
chr10 GH10I043056 43056442 43058441 0.58 [{'connected_gene': 'CSGALNACT2', 'score': 18.03}, {'connected_gene': 'RET', 'score': 5.82}, {'connected_gene': 'GC10M043057', 'score': 0.77}, {'connected_gene': 'MIR5100', 'score': 0.22}]
chr10 GH10I043086 43086364 43087440 0.51 [{'connected_gene': 'CSGALNACT2', 'score': 20.51}, {'connected_gene': 'RET', 'score': 0.44}, {'connected_gene': 'PIR60596', 'score': 0.39}]
chr10 GH10I043109 43109913 43111660 0.89 [{'connected_gene': 'CSGALNACT2', 'score': 32.65}, {'connected_gene': 'PIR60596', 'score': 0.44}, {'connected_gene': 'GC10M043121', 'score': 0.37}, {'connected_gene': 'RET', 'score': 0.29}]
chr10 GH10I043128 43128664 43130122 1.18 [{'connected_gene': 'CSGALNACT2', 'score': 49.03}, {'connected_gene': 'GC10M043121', 'score': 0.77}, {'connected_gene': 'ENSG00000273008', 'score': 0.44}, {'connected_gene': 'RET', 'score': 0.23}]
chr10 GH10I043225 43225627 43226462 0.52 [{'connected_gene': 'CSGALNACT2', 'score': 50.29}, {'connected_gene': 'LOC441666', 'score': 10.53}, {'connected_gene': 'RASGEF1A', 'score': 10.37}, {'connected_gene': 'ZNF32-AS2', 'score': 9.88}, {'connected_gene': 'GC10P043154', 'score': 0.19}, {'connected_gene': 'GC10P043152', 'score': 0.19}, {'connected_gene': 'GC10P043153', 'score': 0.19}]
chr10 GH10I043120 43120301 43122682 1.31 [{'connected_gene': 'CSGALNACT2', 'score': 63.45}, {'connected_gene': 'HNRNPF', 'score': 4.22}, {'connected_gene': 'GC10M043121', 'score': 0.77}, {'connected_gene': 'PIR60596', 'score': 0.34}, {'connected_gene': 'RET', 'score': 0.26}]
chr10 GH10I043136 43136907 43141233 2.52 [{'connected_gene': 'CSGALNACT2', 'score': 640.45}, {'connected_gene': 'ENSG00000273008', 'score': 550.77}, {'connected_gene': 'HNRNPF', 'score': 16.5}, {'connected_gene': 'RASGEF1A', 'score': 9.76}, {'connected_gene': 'GC10P043154', 'score': 0.39}]
chr10 GH10I043304 43304401 43305400 1.08 [{'connected_gene': 'CSGALNACT2', 'score': 9.04}, {'connected_gene': 'HNRNPF', 'score': 7.07}, {'connected_gene': 'LOC105378271', 'score': 0.39}, {'connected_gene': 'RASGEF1A', 'score': 0.28}]
chr10 GH10I043286 43286588 43288606 1.29 [{'connected_gene': 'CSGALNACT2', 'score': 11.16}, {'connected_gene': 'RASGEF1A', 'score': 0.34}, {'connected_gene': 'LOC105378271', 'score': 0.29}]
chr10 GH10I043156 43156498 43157820 0.49 [{'connected_gene': 'CSGALNACT2', 'score': 66.92}, {'connected_gene': 'RASGEF1A', 'score': 9.79}, {'connected_gene': 'GC10P043154', 'score': 0.44}, {'connected_gene': 'GC10P043152', 'score': 0.44}, {'connected_gene': 'GC10P043153', 'score': 0.44}]
chr10 GH10I043179 43179050 43181807 0.38 [{'connected_gene': 'CSGALNACT2', 'score': 66.84}, {'connected_gene': 'RASGEF1A', 'score': 9.94}, {'connected_gene': 'GC10P043154', 'score': 0.31}, {'connected_gene': 'GC10P043152', 'score': 0.31}, {'connected_gene': 'GC10P043153', 'score': 0.31}]
chr10 GH10I043168 43168498 43173731 0.54 [{'connected_gene': 'CSGALNACT2', 'score': 80.55}, {'connected_gene': 'RASGEF1A', 'score': 9.92}, {'connected_gene': 'GC10P043154', 'score': 0.37}, {'connected_gene': 'GC10P043152', 'score': 0.37}, {'connected_gene': 'GC10P043153', 'score': 0.37}]
chr10 GH10I043173 43173984 43176107 0.67 [{'connected_gene': 'CSGALNACT2', 'score': 19.61}, {'connected_gene': 'RASGEF1A', 'score': 9.93}, {'connected_gene': 'GC10P043154', 'score': 0.34}, {'connected_gene': 'GC10P043152', 'score': 0.34}, {'connected_gene': 'GC10P043153', 'score': 0.34}]
chr10 GH10I043159 43159802 43161937 0.96 [{'connected_gene': 'CSGALNACT2', 'score': 42.43}, {'connected_gene': 'GC10P043154', 'score': 0.44}, {'connected_gene': 'GC10P043152', 'score': 0.44}, {'connected_gene': 'GC10P043153', 'score': 0.44}, {'connected_gene': 'RASGEF1A', 'score': 0.14}]
chr10 GH10I043154 43154737 43156180 0.2 [{'connected_gene': 'CSGALNACT2', 'score': 8.42}, {'connected_gene': 'GC10P043154', 'score': 0.77}, {'connected_gene': 'GC10P043152', 'score': 0.77}, {'connected_gene': 'GC10P043153', 'score': 0.77}, {'connected_gene': 'RASGEF1A', 'score': 0.14}]
chr10 GH10I043166 43166693 43166842 0.66 [{'connected_gene': 'CSGALNACT2', 'score': 12.58}, {'connected_gene': 'GC10P043152', 'score': 0.39}, {'connected_gene': 'GC10P043153', 'score': 0.39}, {'connected_gene': 'GC10P043154', 'score': 0.37}, {'connected_gene': 'RASGEF1A', 'score': 0.15}]
chr10 GH10I043167 43167001 43167400 0.58 [{'connected_gene': 'CSGALNACT2', 'score': 12.58}, {'connected_gene': 'GC10P043154', 'score': 0.37}, {'connected_gene': 'GC10P043152', 'score': 0.37}, {'connected_gene': 'GC10P043153', 'score': 0.37}, {'connected_gene': 'RASGEF1A', 'score': 0.15}]
chr10 GH10I043201 43201743 43204485 1.35 [{'connected_gene': 'CSGALNACT2', 'score': 76.1}, {'connected_gene': 'GC10P043154', 'score': 0.23}, {'connected_gene': 'GC10P043152', 'score': 0.23}, {'connected_gene': 'GC10P043153', 'score': 0.23}, {'connected_gene': 'RASGEF1A', 'score': 0.21}]
chr10 GH10I043190 43190498 43191381 0.38 [{'connected_gene': 'CSGALNACT2', 'score': 66.81}, {'connected_gene': 'ZNF37BP', 'score': 14.37}, {'connected_gene': 'ENSG00000273008', 'score': 14.12}, {'connected_gene': 'ZNF32-AS2', 'score': 12.66}, {'connected_gene': 'ZNF32-AS1', 'score': 12.29}, {'connected_gene': 'GC10P043152', 'score': 0.28}, {'connected_gene': 'GC10P043154', 'score': 0.28}, {'connected_gene': 'GC10P043153', 'score': 0.28}, {'connected_gene': 'RASGEF1A', 'score': 0.18}]
chr10 GH10I043229 43229173 43232265 1.45 [{'connected_gene': 'RASGEF1A', 'score': 550.28}, {'connected_gene': 'CSGALNACT2', 'score': 48.99}, {'connected_gene': 'ZNF37BP', 'score': 14.36}, {'connected_gene': 'ENSG00000273008', 'score': 14.05}, {'connected_gene': 'ZNF32-AS2', 'score': 12.66}, {'connected_gene': 'ZNF32-AS1', 'score': 12.29}, {'connected_gene': 'GC10P043152', 'score': 0.18}, {'connected_gene': 'GC10P043154', 'score': 0.18}, {'connected_gene': 'GC10P043153', 'score': 0.18}]
chr10 GH10I043265 43265853 43266122 0.93 [{'connected_gene': 'RASGEF1A', 'score': 560.88}, {'connected_gene': 'CSGALNACT2', 'score': 14.04}, {'connected_gene': 'GC10P043152', 'score': 0.14}, {'connected_gene': 'GC10P043153', 'score': 0.14}]
chr10 GH10I043604 43604934 43605411 0.31 [{'connected_gene': 'ZNF485', 'score': 550.77}, {'connected_gene': 'CAP1P2', 'score': 550.77}, {'connected_gene': 'ZNF239', 'score': 6.79}, {'connected_gene': 'ENSG00000229116', 'score': 5.98}, {'connected_gene': 'CSGALNACT2', 'score': 2.1}, {'connected_gene': 'GC10M043601', 'score': 0.15}]
chr10 GH10I044081 44081855 44082175 0.22 [{'connected_gene': 'C10orf25', 'score': 4.57}, {'connected_gene': 'CSGALNACT2', 'score': 4.57}, {'connected_gene': 'PIR37397', 'score': 0.1}, {'connected_gene': 'ENSG00000237590', 'score': 0.1}]
chr10 GH10I043416 43416508 43422578 2.07 [{'connected_gene': 'LOC105378272', 'score': 566.76}, {'connected_gene': 'GC10P043423', 'score': 550.77}, {'connected_gene': 'BMS1', 'score': 25.25}, {'connected_gene': 'ZNF32-AS2', 'score': 13.27}, {'connected_gene': 'EIF3LP2', 'score': 11.15}, {'connected_gene': 'ZNF33B', 'score': 9.86}, {'connected_gene': 'ZNF239', 'score': 4.36}, {'connected_gene': 'ENSG00000259869', 'score': 4.1}, {'connected_gene': 'HNRNPF', 'score': 1.46}, {'connected_gene': 'CSGALNACT2', 'score': 1.4}, {'connected_gene': 'GC10M043420', 'score': 0.77}, {'connected_gene': 'SNORD3J', 'score': 0.77}]
chr10 GH10I043322 43322314 43323654 1.05 [{'connected_gene': 'LOC105378270', 'score': 550.77}, {'connected_gene': 'ENSG00000224265', 'score': 550.77}, {'connected_gene': 'LOC105378272', 'score': 8.68}, {'connected_gene': 'CSGALNACT2', 'score': 5.31}, {'connected_gene': 'LOC105378271', 'score': 0.77}]
chr10 GH10I042815 42815953 42818182 0.38 [{'connected_gene': 'PIR61313', 'score': 550.77}, {'connected_gene': 'LINC00839', 'score': 7.08}, {'connected_gene': 'ENSG00000259869', 'score': 6.44}, {'connected_gene': 'CSGALNACT2', 'score': 4.56}, {'connected_gene': 'GC10M042762', 'score': 0.34}, {'connected_gene': 'BMS1', 'score': 0.29}]
chr10 GH10I043126 43126601 43127400 0.72 [{'connected_gene': 'GC10M043121', 'score': 550.77}, {'connected_gene': 'CSGALNACT2', 'score': 52.66}, {'connected_gene': 'ENSG00000273008', 'score': 0.39}, {'connected_gene': 'RET', 'score': 0.25}]
chr10 GH10I043151 43151601 43151800 0.51 [{'connected_gene': 'GC10P043154', 'score': 550.77}, {'connected_gene': 'GC10P043152', 'score': 550.77}, {'connected_gene': 'GC10P043153', 'score': 550.77}, {'connected_gene': 'CSGALNACT2', 'score': 0.39}]