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
ENST00000343348 [[115779311, 115783507], [115803278, 115803443], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840678], [115909880, 115910630]] [[115782308, 115783507], [115803278, 115803443], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840640]]
ENST00000257414 [[115781445, 115783507], [115803278, 115803443], [115808580, 115808631], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840678], [115909880, 115910091]] [[115782308, 115783507], [115803278, 115803443], [115808580, 115808631], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840640]]
ENST00000510263 [[115782308, 115783507], [115803278, 115803443], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840678], [115871993, 115872154]] [[115782308, 115783507], [115803278, 115803443], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840640]]
ENST00000515009 [[115827491, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840678], [115872078, 115872124]] [[115827491, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840640]]
ENST00000509665 [[115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840678], [115890434, 115890592]] [[115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840640]]
ENST00000513137 [[115781829, 115783507], [115803278, 115805240]] [[115782308, 115783507], [115803278, 115803453]]
ENST00000282394 [[115781829, 115783507], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814373]] [[115782308, 115783507], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814260]]
ENST00000515129 [[115781829, 115783507], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814373]] [[115782308, 115783507], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814373]]
ENST00000503865 [[115782159, 115783507], [115785012, 115785342]] [[115782308, 115783507], [115785012, 115785043]]
ENST00000506114 [[115783383, 115783507], [115803278, 115803443], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115815817, 115815975]] None
ENST00000514316 [[115813961, 115814414], [115815817, 115815936]] None
ENST00000503402 [[115818154, 115818271], [115822444, 115822925]] None
ENST00000510024 [[115822336, 115822662], [115823803, 115823892], [115824583, 115824705]] None
ENST00000502996 [[115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115828022, 115828181], [115831108, 115831141]] None
ENST00000503962 [[115824610, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115838134, 115838373]] None
ENST00000512156 [[115885810, 115886342], [115909880, 115909930]] None
NM_001300780 [[115779250, 115783507], [115803278, 115803443], [115808580, 115808631], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840678], [115909880, 115910622]] [[115782308, 115783507], [115803278, 115803443], [115808580, 115808631], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840640]]
NM_020796 [[115779250, 115783507], [115803278, 115803443], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840678], [115909880, 115910622]] [[115782308, 115783507], [115803278, 115803443], [115808768, 115808789], [115811240, 115811299], [115813541, 115813622], [115813709, 115813850], [115814237, 115814414], [115815817, 115815973], [115818139, 115818271], [115822444, 115822662], [115823803, 115823892], [115824583, 115824703], [115827435, 115827526], [115831108, 115831210], [115831946, 115832009], [115833022, 115833083], [115837905, 115838023], [115840540, 115840640]]
Promoter
Chrom Start End Description
chr5 115872128 115872139 CAGE_peak_10_at_SEMA6A_5end
chr5 115872142 115872149 CAGE_peak_19_at_SEMA6A_5end
chr5 115872159 115872172 CAGE_peak_9_at_SEMA6A_5end
chr5 115872558 115872562 CAGE_peak_8_at_SEMA6A_5end
chr5 115890554 115890570 CAGE_peak_11_at_SEMA6A_5end
chr5 115910116 115910141 CAGE_peak_4_at_SEMA6A_5end
chr5 115910459 115910474 CAGE_peak_2_at_SEMA6A_5end
chr5 115910475 115910491 CAGE_peak_3_at_SEMA6A_5end
chr5 115910498 115910536 CAGE_peak_1_at_SEMA6A_5end
chr5 115910646 115910657 CAGE_peak_6_at_SEMA6A_5end
chr5 115910716 115910730 CAGE_peak_5_at_SEMA6A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I116558 116558831 116560922 0.86 [{'connected_gene': 'ATG12', 'score': 10.05}, {'connected_gene': 'RPS14P8', 'score': 0.77}, {'connected_gene': 'GC05M116552', 'score': 0.44}, {'connected_gene': 'GC05P116544', 'score': 0.37}, {'connected_gene': 'SEMA6A', 'score': 0.37}]
chr5 GH05I116539 116539971 116541720 0.38 [{'connected_gene': 'ATG12', 'score': 10.05}, {'connected_gene': 'SEMA6A-AS1', 'score': 9.96}, {'connected_gene': 'GC05P116544', 'score': 0.77}, {'connected_gene': 'SEMA6A', 'score': 0.29}]
chr5 GH05I116568 116568390 116570030 0.46 [{'connected_gene': 'RPS14P8', 'score': 0.44}, {'connected_gene': 'SEMA6A', 'score': 0.44}, {'connected_gene': 'SEMA6A-AS2', 'score': 0.44}, {'connected_gene': 'GC05P116544', 'score': 0.34}]
chr5 GH05I116563 116563160 116565978 0.69 [{'connected_gene': 'RPS14P8', 'score': 0.77}, {'connected_gene': 'SEMA6A-AS2', 'score': 0.44}, {'connected_gene': 'SEMA6A', 'score': 0.39}, {'connected_gene': 'GC05P116544', 'score': 0.37}]
chr5 GH05I116671 116671245 116671394 0.77 [{'connected_gene': 'RPS17P2', 'score': 0.26}, {'connected_gene': 'SEMA6A', 'score': 0.15}, {'connected_gene': 'GC05P116544', 'score': 0.13}]
chr5 GH05I116651 116651587 116653409 1.13 [{'connected_gene': 'RPS17P2', 'score': 0.21}, {'connected_gene': 'SEMA6A', 'score': 0.18}, {'connected_gene': 'GC05P116544', 'score': 0.14}]
chr5 GH05I116704 116704432 116705234 0.6 [{'connected_gene': 'RPS17P2', 'score': 0.39}, {'connected_gene': 'SEMA6A', 'score': 0.13}]
chr5 GH05I116709 116709185 116709334 0.56 [{'connected_gene': 'RPS17P2', 'score': 0.44}, {'connected_gene': 'SEMA6A', 'score': 0.12}]
chr5 GH05I116681 116681528 116682480 0.75 [{'connected_gene': 'SEMA6A', 'score': 5.72}, {'connected_gene': 'RPS17P2', 'score': 0.29}, {'connected_gene': 'GC05P116544', 'score': 0.12}]
chr5 GH05I116923 116923668 116923865 0.33 [{'connected_gene': 'SEMA6A', 'score': 1.81}, {'connected_gene': 'LOC105379135', 'score': 0.44}, {'connected_gene': 'LOC105379137', 'score': 0.31}]
chr5 GH05I116759 116759076 116761070 0.72 [{'connected_gene': 'SEMA6A', 'score': 11.58}, {'connected_gene': 'SEMA6A-AS2', 'score': 11.58}, {'connected_gene': 'ATG12', 'score': 4.25}, {'connected_gene': 'LINC02214', 'score': 0.77}, {'connected_gene': 'RPS17P2', 'score': 0.26}, {'connected_gene': 'GC05M116739', 'score': 0.23}]
chr5 GH05I116570 116570201 116570400 0.63 [{'connected_gene': 'SEMA6A', 'score': 0.77}, {'connected_gene': 'SEMA6A-AS2', 'score': 0.77}, {'connected_gene': 'RPS14P8', 'score': 0.44}, {'connected_gene': 'GC05P116544', 'score': 0.31}]
chr5 GH05I116572 116571001 116571200 0.31 [{'connected_gene': 'SEMA6A', 'score': 0.77}, {'connected_gene': 'SEMA6A-AS2', 'score': 0.77}, {'connected_gene': 'RPS14P8', 'score': 0.44}, {'connected_gene': 'GC05P116544', 'score': 0.31}]
chr5 GH05I116696 116696390 116696860 0.66 [{'connected_gene': 'SEMA6A', 'score': 10.7}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.7}, {'connected_gene': 'RPS17P2', 'score': 0.37}]
chr5 GH05I116625 116625732 116627420 1.04 [{'connected_gene': 'SEMA6A', 'score': 10.75}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.75}, {'connected_gene': 'GC05P116544', 'score': 0.18}, {'connected_gene': 'RPS17P2', 'score': 0.17}]
chr5 GH05I116613 116613691 116614714 0.69 [{'connected_gene': 'SEMA6A', 'score': 10.74}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.74}, {'connected_gene': 'GC05P116544', 'score': 0.2}, {'connected_gene': 'RPS17P2', 'score': 0.15}]
chr5 GH05I116453 116453141 116456141 1.23 [{'connected_gene': 'SEMA6A', 'score': 20.59}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.16}, {'connected_gene': 'COMMD10', 'score': 4.7}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.44}, {'connected_gene': 'GC05P116420', 'score': 0.29}, {'connected_gene': 'GC05P116544', 'score': 0.16}]
chr5 GH05I116459 116459114 116459181 0.22 [{'connected_gene': 'SEMA6A', 'score': 10.42}, {'connected_gene': 'SEMA6A-AS2', 'score': 9.02}, {'connected_gene': 'COMMD10', 'score': 1.79}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.39}, {'connected_gene': 'GC05P116544', 'score': 0.17}]
chr5 GH05I116487 116487653 116489981 0.2 [{'connected_gene': 'SEMA6A', 'score': 15.8}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.34}, {'connected_gene': 'RNU6-644P', 'score': 9.78}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.26}, {'connected_gene': 'GC05P116544', 'score': 0.22}]
chr5 GH05I116947 116947508 116948580 0.9 [{'connected_gene': 'SEMA6A', 'score': 11.45}, {'connected_gene': 'SEMA6A-AS2', 'score': 11.45}, {'connected_gene': 'LOC105379137', 'score': 0.44}, {'connected_gene': 'LOC105379135', 'score': 0.29}]
chr5 GH05I116938 116938371 116940636 0.52 [{'connected_gene': 'SEMA6A', 'score': 10.84}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.84}, {'connected_gene': 'LOC105379137', 'score': 0.39}, {'connected_gene': 'LOC105379135', 'score': 0.34}]
chr5 GH05I116943 116943460 116944753 0.59 [{'connected_gene': 'SEMA6A', 'score': 10.84}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.84}, {'connected_gene': 'LOC105379137', 'score': 0.44}, {'connected_gene': 'LOC105379135', 'score': 0.31}]
chr5 GH05I116861 116861719 116867526 1.1 [{'connected_gene': 'SEMA6A', 'score': 10.07}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.07}, {'connected_gene': 'ENSG00000249150', 'score': 0.29}, {'connected_gene': 'LOC105379136', 'score': 0.29}]
chr5 GH05I116754 116754585 116754854 0.31 [{'connected_gene': 'SEMA6A', 'score': 10.66}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.65}, {'connected_gene': 'LINC02214', 'score': 0.44}, {'connected_gene': 'RPS17P2', 'score': 0.28}, {'connected_gene': 'GC05M116739', 'score': 0.22}]
chr5 GH05I116523 116523986 116538956 1.64 [{'connected_gene': 'SEMA6A', 'score': 13.47}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.76}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.63}, {'connected_gene': 'RNU6-644P', 'score': 10.14}, {'connected_gene': 'GC05P116544', 'score': 0.39}]
chr5 GH05I116551 116550997 116553094 0.31 [{'connected_gene': 'SEMA6A', 'score': 11.69}, {'connected_gene': 'SEMA6A-AS2', 'score': 11.69}, {'connected_gene': 'SEMA6A-AS1', 'score': 9.68}, {'connected_gene': 'GC05M116552', 'score': 0.77}, {'connected_gene': 'GC05P116544', 'score': 0.44}]
chr5 GH05I116550 116550386 116550946 0.52 [{'connected_gene': 'SEMA6A', 'score': 10.91}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.91}, {'connected_gene': 'SEMA6A-AS1', 'score': 9.68}, {'connected_gene': 'GC05M116552', 'score': 0.77}, {'connected_gene': 'GC05P116544', 'score': 0.44}]
chr5 GH05I116521 116520474 116522980 0.63 [{'connected_gene': 'SEMA6A', 'score': 10.49}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.49}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.06}, {'connected_gene': 'GC05P116544', 'score': 0.34}]
chr5 GH05I116515 116515358 116516602 0.38 [{'connected_gene': 'SEMA6A', 'score': 10.47}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.47}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.28}, {'connected_gene': 'GC05P116544', 'score': 0.31}]
chr5 GH05I116520 116520260 116520273 0.39 [{'connected_gene': 'SEMA6A', 'score': 10.49}, {'connected_gene': 'SEMA6A-AS2', 'score': 10.49}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.06}, {'connected_gene': 'GC05P116544', 'score': 0.34}]
chr5 GH05I116571 116571703 116577879 2.58 [{'connected_gene': 'SEMA6A', 'score': 560.05}, {'connected_gene': 'SEMA6A-AS2', 'score': 550.77}, {'connected_gene': 'ENSG00000250015', 'score': 14.07}, {'connected_gene': 'GC05P116544', 'score': 0.29}]
chr5 GH05I116463 116463612 116465768 0.38 [{'connected_gene': 'SEMA6A', 'score': 14.33}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.37}, {'connected_gene': 'GC05P116544', 'score': 0.18}]
chr5 GH05I116491 116491854 116493674 1.04 [{'connected_gene': 'SEMA6A', 'score': 8.74}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.25}, {'connected_gene': 'GC05P116544', 'score': 0.23}]
chr5 GH05I117048 117048415 117048628 0.26 [{'connected_gene': 'SEMA6A', 'score': 2.33}, {'connected_gene': 'ENSG00000250949', 'score': 0.37}, {'connected_gene': 'GC05P117130', 'score': 0.18}]
chr5 GH05I116466 116466216 116468212 0.38 [{'connected_gene': 'COMMD10', 'score': 4.29}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.37}, {'connected_gene': 'GC05P116544', 'score': 0.18}, {'connected_gene': 'SEMA6A', 'score': 0.14}]
chr5 GH05I116486 116486098 116487574 0.38 [{'connected_gene': 'RNU6-644P', 'score': 9.78}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.28}, {'connected_gene': 'GC05P116544', 'score': 0.22}, {'connected_gene': 'SEMA6A', 'score': 0.17}]
chr5 GH05I116371 116371401 116372000 0.69 [{'connected_gene': 'SEMA6A-AS1', 'score': 10.56}, {'connected_gene': 'SEMA6A', 'score': 9.83}, {'connected_gene': 'SEMA6A-AS2', 'score': 9.83}, {'connected_gene': 'LOC101927190', 'score': 0.77}, {'connected_gene': 'ENSG00000250015', 'score': 0.2}, {'connected_gene': 'COMMD10', 'score': 0.06}]
chr5 GH05I116395 116395200 116396104 0.46 [{'connected_gene': 'SEMA6A-AS1', 'score': 10.86}, {'connected_gene': 'SEMA6A', 'score': 5.76}, {'connected_gene': 'LOC101927190', 'score': 0.34}, {'connected_gene': 'GC05P116420', 'score': 0.34}, {'connected_gene': 'COMMD10', 'score': 0.06}]
chr5 GH05I116474 116474800 116476127 0.52 [{'connected_gene': 'SEMA6A-AS1', 'score': 10.77}, {'connected_gene': 'GC05P116544', 'score': 0.2}, {'connected_gene': 'SEMA6A', 'score': 0.15}]
chr5 GH05I116556 116556124 116557496 0.31 [{'connected_gene': 'GC05M116552', 'score': 0.77}, {'connected_gene': 'RPS14P8', 'score': 0.44}, {'connected_gene': 'GC05P116544', 'score': 0.39}, {'connected_gene': 'SEMA6A', 'score': 0.37}]
chr5 GH05I116554 116554801 116555000 0.77 [{'connected_gene': 'GC05M116552', 'score': 550.77}, {'connected_gene': 'SEMA6A', 'score': 11.69}, {'connected_gene': 'RPS14P8', 'score': 0.44}, {'connected_gene': 'GC05P116544', 'score': 0.39}]
chr5 GH05I116542 116542402 116548948 1.13 [{'connected_gene': 'GC05P116544', 'score': 550.77}, {'connected_gene': 'SEMA6A', 'score': 11.22}, {'connected_gene': 'SEMA6A-AS2', 'score': 11.22}, {'connected_gene': 'SEMA6A-AS1', 'score': 9.96}, {'connected_gene': 'GC05M116552', 'score': 0.44}]
chr5 GH05I116553 116553194 116554129 0.51 [{'connected_gene': 'GC05M116552', 'score': 550.77}, {'connected_gene': 'SEMA6A', 'score': 11.69}, {'connected_gene': 'SEMA6A-AS2', 'score': 11.69}, {'connected_gene': 'GC05P116544', 'score': 0.44}]
chr5 GH05I116507 116507065 116507214 0.69 [{'connected_gene': 'GC05P116544', 'score': 0.28}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.22}, {'connected_gene': 'SEMA6A', 'score': 0.2}]
chr5 GH05I116497 116497441 116499289 0.73 [{'connected_gene': 'ENSG00000250015', 'score': 15.91}, {'connected_gene': 'GC05P116544', 'score': 0.25}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.23}, {'connected_gene': 'SEMA6A', 'score': 0.18}]
chr5 GH05I116502 116502215 116503575 0.72 [{'connected_gene': 'GC05P116544', 'score': 0.26}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.22}, {'connected_gene': 'SEMA6A', 'score': 0.19}]
chr5 GH05I116508 116507311 116507853 0.74 [{'connected_gene': 'GC05P116544', 'score': 0.28}, {'connected_gene': 'SEMA6A-AS1', 'score': 0.21}, {'connected_gene': 'SEMA6A', 'score': 0.2}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.