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
ENST00000389916 [[72322350, 72322527], [72324563, 72324644], [72338014, 72338125], [72338768, 72338856], [72339162, 72339299], [72340361, 72340487], [72340899, 72341094], [72342516, 72342663], [72343915, 72344038], [72345322, 72345488], [72346539, 72346714], [72346845, 72347044], [72348005, 72348276], [72348357, 72348479], [72348959, 72349093], [72349334, 72349440], [72349632, 72349720], [72350300, 72350698], [72350920, 72351080], [72351320, 72351959]] [[72322488, 72322527], [72324563, 72324644], [72338014, 72338125], [72338768, 72338856], [72339162, 72339299], [72340361, 72340487], [72340899, 72341094], [72342516, 72342663], [72343915, 72344038], [72345322, 72345488], [72346539, 72346714], [72346845, 72347044], [72348005, 72348276], [72348357, 72348479], [72348959, 72349093], [72349334, 72349440], [72349632, 72349720], [72350300, 72350698], [72350920, 72351080], [72351320, 72351451]]
ENST00000551294 [[72322348, 72322527], [72324563, 72324644], [72338014, 72338125], [72338768, 72338856], [72339162, 72339299], [72340899, 72341094], [72342516, 72342663], [72343915, 72344038], [72345322, 72345488], [72346539, 72346714], [72346845, 72347044], [72348005, 72348276], [72348357, 72348465]] [[72322488, 72322527], [72324563, 72324644], [72338014, 72338125], [72338768, 72338856], [72339162, 72339299], [72340899, 72341094], [72342516, 72342663], [72343915, 72344038], [72345322, 72345488], [72346539, 72346714], [72346845, 72347044], [72348005, 72348276], [72348357, 72348465]]
ENST00000551017 [[72322364, 72322527], [72324563, 72325605]] None
ENST00000359939 [[72322369, 72322527], [72324563, 72324644], [72338014, 72338125], [72338768, 72338856], [72339162, 72339299], [72340899, 72341094], [72342516, 72342663], [72343915, 72344038], [72345322, 72345488], [72346539, 72346714], [72346845, 72347484]] None
ENST00000547389 [[72322395, 72322527], [72324563, 72324644], [72338014, 72338125], [72338768, 72338856], [72339162, 72339299], [72340361, 72340487], [72340899, 72341094], [72342516, 72342663], [72343915, 72344038], [72345322, 72345488], [72346539, 72346714], [72346845, 72347458]] None
ENST00000549637 [[72344728, 72345488], [72346539, 72346620]] None
NM_153209 [[72322350, 72322527], [72324563, 72324644], [72338014, 72338125], [72338768, 72338856], [72339162, 72339299], [72340361, 72340487], [72340899, 72341094], [72342516, 72342663], [72343915, 72344038], [72345322, 72345488], [72346539, 72346714], [72346845, 72347044], [72348005, 72348276], [72348357, 72348479], [72348959, 72349093], [72349334, 72349440], [72349632, 72349720], [72350300, 72350698], [72350920, 72351080], [72351320, 72351959]] [[72322488, 72322527], [72324563, 72324644], [72338014, 72338125], [72338768, 72338856], [72339162, 72339299], [72340361, 72340487], [72340899, 72341094], [72342516, 72342663], [72343915, 72344038], [72345322, 72345488], [72346539, 72346714], [72346845, 72347044], [72348005, 72348276], [72348357, 72348479], [72348959, 72349093], [72349334, 72349440], [72349632, 72349720], [72350300, 72350698], [72350920, 72351080], [72351320, 72351451]]
Promoter
Chrom Start End Description
chr17 72322330 72322343 CAGE_peak_2_at_KIF19_5end
chr17 72322346 72322382 CAGE_peak_1_at_KIF19_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I074360 74360683 74363188 1.4 [{'connected_gene': 'BTBD17', 'score': 550.77}, {'connected_gene': 'GPR142', 'score': 7.83}, {'connected_gene': 'KIF19', 'score': 0.28}]
chr17 GH17I074354 74354162 74354271 0.8 [{'connected_gene': 'GPR142', 'score': 5.24}, {'connected_gene': 'BTBD17', 'score': 0.44}, {'connected_gene': 'KIF19', 'score': 0.31}]
chr17 GH17I074336 74336246 74346305 0.75 [{'connected_gene': 'GPR142', 'score': 17.55}, {'connected_gene': 'CD300LB', 'score': 11.12}, {'connected_gene': 'CD300C', 'score': 11.12}, {'connected_gene': 'ENSG00000236770', 'score': 11.11}, {'connected_gene': 'CD300A', 'score': 10.95}, {'connected_gene': 'MGC16275', 'score': 10.62}, {'connected_gene': 'TTYH2', 'score': 10.62}, {'connected_gene': 'RPL38', 'score': 10.62}, {'connected_gene': 'MRPL58', 'score': 5.11}, {'connected_gene': 'KIF19', 'score': 0.37}, {'connected_gene': 'BTBD17', 'score': 0.34}]
chr17 GH17I074807 74807989 74808242 0.64 [{'connected_gene': 'RAB37', 'score': 33.2}, {'connected_gene': 'GRIN2C', 'score': 25.58}, {'connected_gene': 'NAT9', 'score': 11.27}, {'connected_gene': 'TMEM104', 'score': 11.27}, {'connected_gene': 'CD300E', 'score': 9.96}, {'connected_gene': 'KCTD2', 'score': 3.39}, {'connected_gene': 'FADS6', 'score': 2.87}, {'connected_gene': 'KIF19', 'score': 1.77}, {'connected_gene': 'PIR51683', 'score': 0.77}, {'connected_gene': 'PIR37943', 'score': 0.29}]
chr17 GH17I074331 74331930 74333580 1.09 [{'connected_gene': 'NT5C', 'score': 15.62}, {'connected_gene': 'NUP85', 'score': 12.58}, {'connected_gene': 'KIF19', 'score': 0.44}, {'connected_gene': 'BTBD17', 'score': 0.29}]
chr17 GH17I074813 74813001 74813413 0.78 [{'connected_gene': 'GRIN2C', 'score': 13.96}, {'connected_gene': 'FADS6', 'score': 13.55}, {'connected_gene': 'CD300E', 'score': 9.61}, {'connected_gene': 'KIF19', 'score': 4.71}, {'connected_gene': 'KCTD2', 'score': 2.64}, {'connected_gene': 'RAB37', 'score': 1.36}, {'connected_gene': 'PIR51683', 'score': 0.44}, {'connected_gene': 'PIR37943', 'score': 0.31}, {'connected_gene': 'TMEM104', 'score': 0.28}]
chr17 GH17I074732 74732602 74733672 0.96 [{'connected_gene': 'NAT9', 'score': 33.69}, {'connected_gene': 'NUP85', 'score': 21.54}, {'connected_gene': 'NT5C', 'score': 19.44}, {'connected_gene': 'GGA3', 'score': 18.11}, {'connected_gene': 'SAP30BP', 'score': 11.54}, {'connected_gene': 'RN7SL573P', 'score': 11.34}, {'connected_gene': 'RAB37', 'score': 7.04}, {'connected_gene': 'GRIN2C', 'score': 5.74}, {'connected_gene': 'KCTD2', 'score': 1.93}, {'connected_gene': 'KIF19', 'score': 1.38}, {'connected_gene': 'FADS6', 'score': 1.34}, {'connected_gene': 'SLC9A3R1', 'score': 0.37}, {'connected_gene': 'CD300LF', 'score': 0.34}]
chr17 GH17I074192 74192819 74194203 1.3 [{'connected_gene': 'KIF19', 'score': 1.91}, {'connected_gene': 'RPL38', 'score': 0.39}, {'connected_gene': 'LINC02074', 'score': 0.28}]
chr17 GH17I074324 74324986 74327259 1.24 [{'connected_gene': 'KIF19', 'score': 556.11}, {'connected_gene': 'GC17M074321', 'score': 550.77}]
chr17 GH17I074108 74108342 74108587 0.37 [{'connected_gene': 'LINC02074', 'score': 4.85}, {'connected_gene': 'KIF19', 'score': 1.95}, {'connected_gene': 'PIR51734', 'score': 0.37}]