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
ENST00000503538 [[76325075, 76325302], [76330242, 76330345], [76331365, 76331568], [76332380, 76332399]] None
ENST00000312916 [[76326209, 76326801], [76330242, 76330345], [76331365, 76331568], [76332380, 76332545], [76335355, 76335544], [76342171, 76342502], [76343985, 76344097], [76344760, 76344812], [76348530, 76348632], [76349789, 76349955], [76351338, 76351421], [76355440, 76355568], [76357527, 76357627], [76358876, 76361059]] [[76326591, 76326801], [76330242, 76330345], [76331365, 76331568], [76332380, 76332545], [76335355, 76335544], [76342171, 76342502], [76343985, 76344097], [76344760, 76344812], [76348530, 76348632], [76349789, 76349955], [76351338, 76351421], [76355440, 76355568], [76357527, 76357627], [76358876, 76359077]]
ENST00000502408 [[76326234, 76326432], [76330242, 76330345], [76331365, 76331568], [76332380, 76332545], [76335355, 76335511]] [[76326234, 76326432], [76330242, 76330306]]
ENST00000506806 [[76326280, 76326801], [76330242, 76330345], [76331365, 76331883]] [[76326591, 76326801], [76330242, 76330345], [76331365, 76331583]]
NM_018046 [[76326209, 76326801], [76330242, 76330345], [76331365, 76331568], [76332380, 76332545], [76335355, 76335544], [76342171, 76342502], [76343985, 76344097], [76344760, 76344812], [76348530, 76348632], [76349789, 76349955], [76351338, 76351421], [76355440, 76355568], [76357527, 76357627], [76358876, 76361059]] [[76326591, 76326801], [76330242, 76330345], [76331365, 76331568], [76332380, 76332545], [76335355, 76335544], [76342171, 76342502], [76343985, 76344097], [76344760, 76344812], [76348530, 76348632], [76349789, 76349955], [76351338, 76351421], [76355440, 76355568], [76357527, 76357627], [76358876, 76359077]]
Promoter
Chrom Start End Description
chr5 76326187 76326300 CAGE_peak_1_at_AGGF1_5end
chr5 76326329 76326340 CAGE_peak_3_at_AGGF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I077645 77645011 77645571 1.56 [{'connected_gene': 'RPL7P23', 'score': 27.18}, {'connected_gene': 'SCAMP1', 'score': 16.95}, {'connected_gene': 'WDR41', 'score': 11.88}, {'connected_gene': 'AP3B1', 'score': 11.69}, {'connected_gene': 'AGGF1', 'score': 10.02}, {'connected_gene': 'OTP', 'score': 0.44}, {'connected_gene': 'GC05M077675', 'score': 0.29}]
chr5 GH05I076778 76778996 76779145 0.81 [{'connected_gene': 'RPL7P23', 'score': 35.16}, {'connected_gene': 'AGGF1', 'score': 21.57}, {'connected_gene': 'GC05P076755', 'score': 0.34}, {'connected_gene': 'F2RL1', 'score': 0.28}]
chr5 GH05I076779 76779348 76780053 0.99 [{'connected_gene': 'RPL7P23', 'score': 35.16}, {'connected_gene': 'F2RL1', 'score': 23.92}, {'connected_gene': 'AGGF1', 'score': 21.57}, {'connected_gene': 'GC05P076755', 'score': 0.34}]
chr5 GH05I077029 77029440 77031902 2.06 [{'connected_gene': 'AGGF1', 'score': 556.35}, {'connected_gene': 'ENSG00000250615', 'score': 10.83}, {'connected_gene': 'SNORA47', 'score': 10.63}, {'connected_gene': 'ZBED3-AS1', 'score': 10.6}, {'connected_gene': 'CRHBP', 'score': 10.31}]
chr5 GH05I077066 77066656 77068144 0.52 [{'connected_gene': 'AGGF1', 'score': 6.04}, {'connected_gene': 'ENSG00000250615', 'score': 0.44}]
chr5 GH05I076714 76714969 76719355 2.11 [{'connected_gene': 'F2R', 'score': 567.59}, {'connected_gene': 'ENSG00000225407', 'score': 550.77}, {'connected_gene': 'F2RL1', 'score': 11.3}, {'connected_gene': 'AGGF1', 'score': 11.15}, {'connected_gene': 'POC5', 'score': 10.87}, {'connected_gene': 'RPL7P23', 'score': 9.68}, {'connected_gene': 'GC05P076755', 'score': 0.28}]
chr5 GH05I076541 76541708 76545065 1.3 [{'connected_gene': 'POC5', 'score': 13.48}, {'connected_gene': 'AGGF1', 'score': 10.04}, {'connected_gene': 'IQGAP2', 'score': 5.86}, {'connected_gene': 'F2RL2', 'score': 5.04}, {'connected_gene': 'GC05M076503', 'score': 0.37}, {'connected_gene': 'GC05M076583', 'score': 0.25}]
chr5 GH05I077076 77076801 77078200 0.95 [{'connected_gene': 'GC05M077073', 'score': 550.77}, {'connected_gene': 'RPL7P23', 'score': 9.68}, {'connected_gene': 'AGGF1', 'score': 6.7}, {'connected_gene': 'GC05M077081', 'score': 0.77}, {'connected_gene': 'SNORA47', 'score': 0.77}, {'connected_gene': 'ZBED3', 'score': 0.44}]
chr5 GH05I077065 77065601 77066614 0.31 [{'connected_gene': 'ENSG00000250615', 'score': 0.44}, {'connected_gene': 'AGGF1', 'score': 0.28}]

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