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
ENST00000397292 [[26904080, 26906074], [26907831, 26907996], [26910335, 26910437], [26913876, 26913945], [26917094, 26917163], [26919307, 26919527], [26920224, 26920382], [26923175, 26923345], [26925822, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935204], [26946894, 26947461]] [[26905508, 26906074], [26907831, 26907996], [26910335, 26910437], [26913876, 26913945], [26917094, 26917163], [26919307, 26919527], [26920224, 26920382], [26923175, 26923345], [26925822, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935204], [26946894, 26947043]]
ENST00000517642 [[26905880, 26906074], [26910335, 26910437], [26913876, 26913945], [26917094, 26917163], [26919307, 26919527], [26920224, 26920382], [26923175, 26923231]] [[26905880, 26906074], [26910335, 26910437], [26913876, 26913945], [26917094, 26917163], [26919307, 26919527], [26920224, 26920382], [26923175, 26923231]]
ENST00000487173 [[26907607, 26907996], [26910335, 26910437], [26913876, 26913945], [26919307, 26919372]] [[26907823, 26907996], [26910335, 26910437], [26913876, 26913945], [26919307, 26919372]]
ENST00000520884 [[26907800, 26907996], [26910335, 26910437], [26913876, 26913945], [26917094, 26917163], [26919307, 26919527], [26920224, 26920382], [26923175, 26923345], [26925822, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935204], [26946894, 26947231]] [[26907823, 26907996], [26910335, 26910437], [26913876, 26913945], [26917094, 26917163], [26919307, 26919527], [26920224, 26920382], [26923175, 26923345], [26925822, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935204], [26946894, 26947043]]
ENST00000520641 [[26916453, 26916703], [26917094, 26917163], [26919307, 26919459]] None
ENST00000521968 [[26919190, 26919527], [26920224, 26920344]] None
ENST00000523212 [[26925890, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935195], [26946894, 26946981]] [[26925890, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935195], [26946894, 26946981]]
NM_001031689 [[26903367, 26906074], [26907831, 26907996], [26910335, 26910437], [26913876, 26913945], [26917094, 26917163], [26919307, 26919527], [26920224, 26920382], [26923175, 26923345], [26925822, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935204], [26946894, 26947468]] [[26905508, 26906074], [26907831, 26907996], [26910335, 26910437], [26913876, 26913945], [26917094, 26917163], [26919307, 26919527], [26920224, 26920382], [26923175, 26923345], [26925822, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935204], [26946894, 26947043]]
NM_001321546 [[26903447, 26906074], [26907831, 26907996], [26910335, 26910437], [26913876, 26913945], [26919307, 26919527], [26920224, 26920382], [26923175, 26923345], [26925822, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935204], [26946894, 26947471]] [[26905508, 26906074], [26907831, 26907996], [26910335, 26910437], [26913876, 26913945], [26919307, 26919527], [26920224, 26920382], [26923175, 26923345], [26925822, 26925958], [26926390, 26926558], [26928097, 26928218], [26928305, 26928406], [26935010, 26935204], [26946894, 26947043]]
Promoter
Chrom Start End Description
chr9 26947101 26947112 CAGE_peak_7_at_PLAA_5end
chr9 26947129 26947212 CAGE_peak_1_at_PLAA_5end
chr9 26947220 26947270 CAGE_peak_2_at_PLAA_5end
chr9 26947285 26947296 CAGE_peak_6_at_PLAA_5end
chr9 26947453 26947473 CAGE_peak_3_at_PLAA_5end
chr9 26947482 26947493 CAGE_peak_4_at_PLAA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I027433 27433223 27435008 0.76 [{'connected_gene': 'PLAA', 'score': 4.92}, {'connected_gene': 'ENSG00000237734', 'score': 0.26}, {'connected_gene': 'LOC105376001', 'score': 0.21}, {'connected_gene': 'MOB3B', 'score': 0.15}]
chr9 GH09I026945 26945346 26948319 2.29 [{'connected_gene': 'IFT74', 'score': 565.34}, {'connected_gene': 'PLAA', 'score': 552.26}, {'connected_gene': 'CAAP1', 'score': 27.44}, {'connected_gene': 'RN7SL100P', 'score': 0.23}]
chr9 GH09I027351 27351130 27352775 1.32 [{'connected_gene': 'IFT74', 'score': 23.72}, {'connected_gene': 'MOB3B', 'score': 11.44}, {'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'C9orf72', 'score': 10.5}, {'connected_gene': 'PLAA', 'score': 1.23}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.23}]
chr9 GH09I026974 26974695 26977659 0.79 [{'connected_gene': 'IFT74', 'score': 37.5}, {'connected_gene': 'LRRC19', 'score': 20.63}, {'connected_gene': 'CAAP1', 'score': 14.99}, {'connected_gene': 'PLAA', 'score': 10.95}, {'connected_gene': 'IFT74-AS1', 'score': 0.37}]
chr9 GH09I026953 26953839 26957699 2.29 [{'connected_gene': 'IFT74', 'score': 585.17}, {'connected_gene': 'IFT74-AS1', 'score': 550.77}, {'connected_gene': 'CAAP1', 'score': 27.07}, {'connected_gene': 'LRRC19', 'score': 18.85}, {'connected_gene': 'PLAA', 'score': 0.44}]
chr9 GH09I026949 26949469 26950558 0.69 [{'connected_gene': 'CAAP1', 'score': 27.6}, {'connected_gene': 'IFT74', 'score': 26.72}, {'connected_gene': 'LRRC19', 'score': 8.75}, {'connected_gene': 'PLAA', 'score': 0.77}, {'connected_gene': 'IFT74-AS1', 'score': 0.44}]
chr9 GH09I027365 27365018 27373527 1.48 [{'connected_gene': 'MOB3B', 'score': 19.35}, {'connected_gene': 'IFT74', 'score': 15.44}, {'connected_gene': 'ENSG00000237734', 'score': 11.35}, {'connected_gene': 'EQTN', 'score': 10.29}, {'connected_gene': 'IFNK', 'score': 9.85}, {'connected_gene': 'C9orf72', 'score': 7.34}, {'connected_gene': 'PLAA', 'score': 1.22}, {'connected_gene': 'GC09M027375', 'score': 0.44}]
chr9 GH09I026889 26889997 26893840 2.08 [{'connected_gene': 'GC09P026892', 'score': 550.77}, {'connected_gene': 'CAAP1', 'score': 550.77}, {'connected_gene': 'IFT74', 'score': 45.52}, {'connected_gene': 'LRRC19', 'score': 19.28}, {'connected_gene': 'PLAA', 'score': 11.48}, {'connected_gene': 'ENSG00000232466', 'score': 0.39}]
chr9 GH09I026894 26894103 26894252 0.2 [{'connected_gene': 'GC09P026892', 'score': 550.77}, {'connected_gene': 'RN7SL100P', 'score': 550.77}, {'connected_gene': 'CAAP1', 'score': 550.77}, {'connected_gene': 'PLAA', 'score': 11.2}, {'connected_gene': 'IFT74', 'score': 11.2}, {'connected_gene': 'IFT74-AS1', 'score': 10.55}]