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
ENST00000264893 [[77870855, 77871083], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77959767]] [[77871056, 77871083], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77955665]]
ENST00000502584 [[77870903, 77871083], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77953311]] [[77871056, 77871083], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952127]]
ENST00000510641 [[77870918, 77871083], [77893542, 77893743], [77894162, 77894223], [77895630, 77895960], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77951989]] [[77895957, 77895960], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77951989]]
ENST00000505788 [[77870961, 77871083], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77957922, 77957990], [77960895, 77961537]] [[77871056, 77871083], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77957922, 77957947]]
ENST00000512575 [[77870988, 77871083], [77949781, 77949914], [77951935, 77952123], [77955649, 77955820]] None
ENST00000510515 [[77870989, 77871083], [77908961, 77909023], [77916933, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77955974]] [[77917034, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77955665]]
ENST00000504637 [[77871014, 77871083], [77916933, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77932897]] [[77917034, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77932897]]
ENST00000512778 [[77906176, 77906276], [77916933, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77932928]] [[77917034, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77932928]]
ENST00000512333 [[77908940, 77909023], [77917577, 77917692], [77926753, 77926949], [77932887, 77933072]] None
ENST00000541121 [[77917034, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77959767]] [[77917034, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77955665]]
ENST00000504460 [[77930932, 77931140], [77932887, 77933074], [77936008, 77936170]] None
ENST00000506047 [[77936023, 77936170], [77940317, 77940414], [77941654, 77942792]] None
ENST00000506731 [[77941684, 77941823], [77949781, 77949914], [77951935, 77952123], [77957925, 77957990], [77960225, 77960359]] [[77941684, 77941823], [77949781, 77949914], [77951935, 77952123], [77957925, 77957947]]
ENST00000502401 [[77949869, 77949914], [77951935, 77952123], [77960225, 77960268]] [[77949869, 77949914], [77951935, 77952123], [77960225, 77960241]]
ENST00000513373 [[77951935, 77952123], [77960895, 77961253]] None
ENST00000513697 [[77952049, 77952123], [77960225, 77960479]] None
ENST00000515671 [[77956076, 77956173], [77960895, 77961305]] None
NM_018243 [[77870866, 77871083], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77959768]] [[77871056, 77871083], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77955665]]
NM_001306147 [[77870866, 77871083], [77908961, 77909023], [77916933, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77959768]] [[77917034, 77917091], [77917577, 77917692], [77926753, 77926949], [77932887, 77933074], [77936008, 77936170], [77940317, 77940414], [77941654, 77941823], [77949781, 77949914], [77951935, 77952123], [77955649, 77955665]]
Promoter
Chrom Start End Description
chr4 77870896 77870914 CAGE_peak_1_at_SEPT11_5end
chr4 77870934 77870956 CAGE_peak_3_at_SEPT11_5end
chr4 77870960 77871020 CAGE_peak_2_at_SEPT11_5end
chr4 77908757 77908793 CAGE_peak_6_at_SEPT11_5end
chr4 77908859 77908883 CAGE_peak_5_at_SEPT11_5end
chr4 77908899 77908914 CAGE_peak_9_at_SEPT11_5end
chr4 77908937 77908956 CAGE_peak_11_at_SEPT11_5end
chr4 77926885 77926899 CAGE_peak_13_at_SEPT11_5end
chr4 77955676 77955722 CAGE_peak_4_at_SEPT11_5end
chr4 77955769 77955773 CAGE_peak_8_at_SEPT11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I077092 77092245 77094478 1.06 [{'connected_gene': 'CCNG2', 'score': 14.01}, {'connected_gene': 'SEPT11', 'score': 10.44}, {'connected_gene': 'SOWAHB', 'score': 5.84}, {'connected_gene': 'RPL7P17', 'score': 0.39}, {'connected_gene': 'GC04M077080', 'score': 0.37}]
chr4 GH04I077005 77005845 77012098 1.33 [{'connected_gene': 'SEPT11', 'score': 17.92}, {'connected_gene': 'SOWAHB', 'score': 7.09}, {'connected_gene': 'CCNG2', 'score': 5.65}, {'connected_gene': 'CCNI', 'score': 1.56}, {'connected_gene': 'PIR49374', 'score': 0.34}, {'connected_gene': 'LOC105377291', 'score': 0.29}]
chr4 GH04I077012 77012148 77014189 0.4 [{'connected_gene': 'SEPT11', 'score': 17.91}, {'connected_gene': 'SOWAHB', 'score': 7.08}, {'connected_gene': 'LOC105377291', 'score': 0.31}, {'connected_gene': 'PIR49374', 'score': 0.31}]
chr4 GH04I076981 76981240 76996588 1.32 [{'connected_gene': 'SEPT11', 'score': 19.54}, {'connected_gene': 'SOWAHB', 'score': 10.32}, {'connected_gene': 'PIR49374', 'score': 0.77}, {'connected_gene': 'LOC105377291', 'score': 0.23}]
chr4 GH04I076976 76976834 76979380 0.86 [{'connected_gene': 'SEPT11', 'score': 11.68}, {'connected_gene': 'SOWAHB', 'score': 10.02}, {'connected_gene': 'PIR49374', 'score': 0.44}, {'connected_gene': 'PIR48550', 'score': 0.44}]
chr4 GH04I076980 76980202 76981000 0.51 [{'connected_gene': 'SEPT11', 'score': 17.27}, {'connected_gene': 'SOWAHB', 'score': 10.34}, {'connected_gene': 'PIR49374', 'score': 0.44}, {'connected_gene': 'PIR48550', 'score': 0.39}]
chr4 GH04I077000 77000692 77004041 1.05 [{'connected_gene': 'SEPT11', 'score': 5.66}, {'connected_gene': 'CCNI', 'score': 1.79}, {'connected_gene': 'PIR49374', 'score': 0.37}, {'connected_gene': 'LOC105377291', 'score': 0.28}]
chr4 GH04I076947 76947523 76952978 2.48 [{'connected_gene': 'SEPT11', 'score': 556.06}, {'connected_gene': 'GC04M076939', 'score': 550.77}, {'connected_gene': 'LOC105377294', 'score': 550.77}, {'connected_gene': 'NUP54', 'score': 20.62}, {'connected_gene': 'SDAD1', 'score': 16.32}, {'connected_gene': 'SOWAHB', 'score': 10.01}, {'connected_gene': 'RPL7P17', 'score': 9.9}, {'connected_gene': 'CNOT6L', 'score': 9.89}, {'connected_gene': 'MRPL1', 'score': 5.69}, {'connected_gene': 'GC04P076953', 'score': 0.77}]
chr4 GH04I077016 77016794 77018032 0.2 [{'connected_gene': 'SEPT11', 'score': 17.86}, {'connected_gene': 'LOC105377291', 'score': 0.34}, {'connected_gene': 'PIR49374', 'score': 0.29}]
chr4 GH04I077014 77014712 77016392 0.51 [{'connected_gene': 'SEPT11', 'score': 18.81}, {'connected_gene': 'LOC105377291', 'score': 0.31}, {'connected_gene': 'PIR49374', 'score': 0.31}]
chr4 GH04I077034 77034638 77038208 0.4 [{'connected_gene': 'SEPT11', 'score': 11.2}, {'connected_gene': 'FAM47E', 'score': 4.29}, {'connected_gene': 'LOC105377291', 'score': 0.77}, {'connected_gene': 'PIR49374', 'score': 0.23}]
chr4 GH04I077020 77020087 77024303 1.17 [{'connected_gene': 'SEPT11', 'score': 11.48}, {'connected_gene': 'FAM47E', 'score': 4.42}, {'connected_gene': 'LOC105377291', 'score': 0.37}, {'connected_gene': 'PIR49374', 'score': 0.28}]
chr4 GH04I076974 76974248 76974397 0.4 [{'connected_gene': 'SEPT11', 'score': 12.41}, {'connected_gene': 'PIR48550', 'score': 0.77}, {'connected_gene': 'PIR49374', 'score': 0.39}]
chr4 GH04I076996 76996946 76999312 0.58 [{'connected_gene': 'SOWAHB', 'score': 14.91}, {'connected_gene': 'SEPT11', 'score': 11.4}, {'connected_gene': 'PIR49374', 'score': 0.39}, {'connected_gene': 'LOC105377291', 'score': 0.26}]
chr4 GH04I076961 76961730 76966830 0.52 [{'connected_gene': 'SOWAHB', 'score': 10.5}, {'connected_gene': 'TXNP6', 'score': 0.77}, {'connected_gene': 'PIR48550', 'score': 0.44}, {'connected_gene': 'SEPT11', 'score': 0.39}]
chr4 GH04I076956 76956801 76957914 0.96 [{'connected_gene': 'SOWAHB', 'score': 14.63}, {'connected_gene': 'GC04P076953', 'score': 0.77}, {'connected_gene': 'TXNP6', 'score': 0.77}, {'connected_gene': 'SEPT11', 'score': 0.44}]
chr4 GH04I076959 76959668 76960792 0.92 [{'connected_gene': 'TXNP6', 'score': 550.77}, {'connected_gene': 'SEPT11', 'score': 0.39}, {'connected_gene': 'PIR48550', 'score': 0.39}]
chr4 GH04I076744 76744346 76744497 0.64 [{'connected_gene': 'RNU6-145P', 'score': 10.55}, {'connected_gene': 'SHROOM3', 'score': 9.97}, {'connected_gene': 'SEPT11', 'score': 2.55}, {'connected_gene': 'STBD1', 'score': 1.34}, {'connected_gene': 'ENSG00000233860', 'score': 0.39}, {'connected_gene': 'LOC105377289', 'score': 0.22}, {'connected_gene': 'GC04M076663', 'score': 0.2}]
chr4 GH04I077025 77025220 77027008 0.54 [{'connected_gene': 'LOC105377291', 'score': 0.37}, {'connected_gene': 'PIR49374', 'score': 0.26}, {'connected_gene': 'SEPT11', 'score': 0.18}]
chr4 GH04I077039 77039306 77041804 0.92 [{'connected_gene': 'LOC105377291', 'score': 550.77}, {'connected_gene': 'SOWAHB', 'score': 5.31}, {'connected_gene': 'PIR49374', 'score': 0.23}, {'connected_gene': 'SEPT11', 'score': 0.16}]
chr4 GH04I077030 77030852 77034427 0.38 [{'connected_gene': 'FAM47E', 'score': 4.15}, {'connected_gene': 'LOC105377291', 'score': 0.44}, {'connected_gene': 'PIR49374', 'score': 0.25}, {'connected_gene': 'SEPT11', 'score': 0.18}]
chr4 GH04I076970 76970028 76970177 0.63 [{'connected_gene': 'PIR48550', 'score': 550.77}, {'connected_gene': 'SEPT11', 'score': 11.7}, {'connected_gene': 'TXNP6', 'score': 0.39}]
chr4 GH04I076954 76954601 76954800 0.72 [{'connected_gene': 'GC04P076953', 'score': 550.77}, {'connected_gene': 'SEPT11', 'score': 7.42}, {'connected_gene': 'TXNP6', 'score': 0.77}]
chr4 GH04I076955 76955308 76955457 0.4 [{'connected_gene': 'GC04P076953', 'score': 550.77}, {'connected_gene': 'TXNP6', 'score': 0.77}, {'connected_gene': 'SEPT11', 'score': 0.44}]
chr4 GH04I077049 77049765 77050773 0.2 [{'connected_gene': 'PIR35274', 'score': 550.77}, {'connected_gene': 'GC04M077049', 'score': 550.77}, {'connected_gene': 'GC04M077051', 'score': 550.77}, {'connected_gene': 'CCNI', 'score': 12.86}, {'connected_gene': 'SEPT11', 'score': 10.38}]
chr4 GH04I077052 77052100 77052826 0.87 [{'connected_gene': 'GC04M077051', 'score': 550.77}, {'connected_gene': 'CCNI', 'score': 12.89}, {'connected_gene': 'SEPT11', 'score': 10.38}, {'connected_gene': 'GC04P077075', 'score': 0.34}]
chr4 GH04I077053 77053339 77053773 0.46 [{'connected_gene': 'GC04M077051', 'score': 550.77}, {'connected_gene': 'CCNI', 'score': 14.01}, {'connected_gene': 'SEPT11', 'score': 10.38}, {'connected_gene': 'GC04P077075', 'score': 0.34}]
chr4 GH04I076751 76751712 76756317 1.2 [{'connected_gene': 'ENSG00000224218', 'score': 10.93}, {'connected_gene': 'RNU6-145P', 'score': 9.86}, {'connected_gene': 'SOWAHB', 'score': 9.85}, {'connected_gene': 'FAM47E', 'score': 4.54}, {'connected_gene': 'SHROOM3', 'score': 4.41}, {'connected_gene': 'SEPT11', 'score': 1.91}, {'connected_gene': 'ENSG00000233860', 'score': 0.77}, {'connected_gene': 'LOC105377289', 'score': 0.25}, {'connected_gene': 'GC04M076663', 'score': 0.18}]

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