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
ENST00000287766 [[11034409, 11034615], [11057357, 11057419], [11058744, 11059135], [11059528, 11059660], [11060283, 11060384], [11061898, 11062008], [11064021, 11064154], [11067134, 11067269], [11067458, 11067562], [11067920, 11068045], [11070420, 11070533], [11070906, 11071038], [11072862, 11072965], [11075324, 11075425], [11076216, 11076384], [11078547, 11080933]] [[11058897, 11059135], [11059528, 11059660], [11060283, 11060384], [11061898, 11062008], [11064021, 11064154], [11067134, 11067269], [11067458, 11067562], [11067920, 11068045], [11070420, 11070533], [11070906, 11071038], [11072862, 11072965], [11075324, 11075425], [11076216, 11076384], [11078547, 11078652]]
ENST00000425938 [[11034413, 11034615], [11057357, 11057419], [11058805, 11059013]] [[11058897, 11059013]]
ENST00000462473 [[11034419, 11034615], [11057357, 11057419], [11058744, 11058945], [11059528, 11059562]] None
ENST00000460480 [[11058801, 11058945], [11060283, 11060384], [11061898, 11062008], [11064021, 11064123]] None
ENST00000536032 [[11058801, 11058945], [11060283, 11060384], [11061898, 11062008], [11064021, 11064154], [11067134, 11067269], [11067458, 11067562], [11067920, 11068045], [11070420, 11070533], [11070906, 11071038], [11072862, 11072965], [11075324, 11075425], [11076216, 11076384], [11078547, 11078834]] [[11061961, 11062008], [11064021, 11064154], [11067134, 11067269], [11067458, 11067562], [11067920, 11068045], [11070420, 11070533], [11070906, 11071038], [11072862, 11072965], [11075324, 11075425], [11076216, 11076384], [11078547, 11078652]]
ENST00000495636 [[11074922, 11075425], [11076216, 11076384], [11078547, 11078964]] None
NM_003042 [[11034419, 11034615], [11057357, 11057419], [11058744, 11059135], [11059528, 11059660], [11060283, 11060384], [11061898, 11062008], [11064021, 11064154], [11067134, 11067269], [11067458, 11067562], [11067920, 11068045], [11070420, 11070533], [11070906, 11071038], [11072862, 11072965], [11075324, 11075425], [11076216, 11076384], [11078547, 11080935]] [[11058897, 11059135], [11059528, 11059660], [11060283, 11060384], [11061898, 11062008], [11064021, 11064154], [11067134, 11067269], [11067458, 11067562], [11067920, 11068045], [11070420, 11070533], [11070906, 11071038], [11072862, 11072965], [11075324, 11075425], [11076216, 11076384], [11078547, 11078652]]
Promoter
Chrom Start End Description
chr3 11034403 11034492 CAGE_peak_1_at_SLC6A1_5end
chr3 11079240 11079242 CAGE_peak_6_at_SLC6A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I011154 11154067 11156094 2.22 [{'connected_gene': 'HRH1', 'score': 553.37}, {'connected_gene': 'LOC105376951', 'score': 550.77}, {'connected_gene': 'SLC6A1', 'score': 5.38}, {'connected_gene': 'SLC6A11', 'score': 2.07}, {'connected_gene': 'VGLL4', 'score': 1.43}, {'connected_gene': 'LOC102723663', 'score': 0.23}]
chr3 GH03I011598 11598551 11605999 2.06 [{'connected_gene': 'VGLL4', 'score': 555.01}, {'connected_gene': 'PIR31694', 'score': 550.77}, {'connected_gene': 'SLC6A1', 'score': 5.22}, {'connected_gene': 'ATP2B2', 'score': 4.57}, {'connected_gene': 'ENSG00000271716', 'score': 0.77}]
chr3 GH03I011632 11632403 11644883 2.47 [{'connected_gene': 'VGLL4', 'score': 566.66}, {'connected_gene': 'SLC6A1', 'score': 4.67}, {'connected_gene': 'ENSG00000272483', 'score': 0.31}]
chr3 GH03I010994 10994433 10994602 0.53 [{'connected_gene': 'SLC6A1', 'score': 571.75}, {'connected_gene': 'ATP2B2', 'score': 6.4}, {'connected_gene': 'SLC6A11', 'score': 3.84}, {'connected_gene': 'SLC6A1-AS1', 'score': 0.34}]
chr3 GH03I010992 10992007 10992801 1.96 [{'connected_gene': 'SLC6A1', 'score': 572.36}, {'connected_gene': 'TAMM41', 'score': 9.7}, {'connected_gene': 'LOC105376950', 'score': 0.21}]
chr3 GH03I010983 10983201 10983649 0.86 [{'connected_gene': 'SLC6A1', 'score': 14.62}, {'connected_gene': 'LOC105376950', 'score': 0.22}]
chr3 GH03I010976 10976752 10978758 0.2 [{'connected_gene': 'SLC6A1', 'score': 11.33}, {'connected_gene': 'LOC105376950', 'score': 0.25}]
chr3 GH03I010989 10989604 10990867 0.38 [{'connected_gene': 'SLC6A1', 'score': 16.02}, {'connected_gene': 'LOC105376950', 'score': 0.21}]
chr3 GH03I010955 10955136 10957679 0.63 [{'connected_gene': 'SLC6A1', 'score': 11.47}, {'connected_gene': 'SLC6A1-AS1', 'score': 11.21}, {'connected_gene': 'SLC6A11', 'score': 10.29}, {'connected_gene': 'LOC105376950', 'score': 0.31}]
chr3 GH03I010803 10803321 10805537 0.56 [{'connected_gene': 'SLC6A1', 'score': 10.11}, {'connected_gene': 'SLC6A1-AS1', 'score': 10.1}, {'connected_gene': 'SLC6A11', 'score': 0.39}, {'connected_gene': 'ENSG00000230599', 'score': 0.28}]
chr3 GH03I010968 10968116 10969300 0.46 [{'connected_gene': 'SLC6A1', 'score': 11.58}, {'connected_gene': 'SLC6A1-AS1', 'score': 11.47}, {'connected_gene': 'LOC105376950', 'score': 0.26}]
chr3 GH03I010961 10961563 10962486 0.31 [{'connected_gene': 'SLC6A1', 'score': 11.63}, {'connected_gene': 'SLC6A1-AS1', 'score': 10.88}, {'connected_gene': 'LOC105376950', 'score': 0.29}]
chr3 GH03I011033 11033222 11034792 0.2 [{'connected_gene': 'SLC6A1', 'score': 10.75}, {'connected_gene': 'SLC6A1-AS1', 'score': 0.39}, {'connected_gene': 'LOC101927467', 'score': 0.31}]
chr3 GH03I011036 11036160 11038635 0.2 [{'connected_gene': 'SLC6A1', 'score': 11.97}, {'connected_gene': 'SLC6A1-AS1', 'score': 0.37}, {'connected_gene': 'LOC101927467', 'score': 0.34}]
chr3 GH03I010407 10407849 10410110 0.2 [{'connected_gene': 'SLC6A1', 'score': 9.66}, {'connected_gene': 'SLC6A1-AS1', 'score': 9.66}, {'connected_gene': 'GHRLOS', 'score': 5.22}, {'connected_gene': 'MIR885', 'score': 0.39}, {'connected_gene': 'GC03P010586', 'score': 0.34}, {'connected_gene': 'ATP2B2', 'score': 0.06}]
chr3 GH03I011011 11011592 11011651 0.81 [{'connected_gene': 'SLC6A1', 'score': 550.37}, {'connected_gene': 'SLC6A1-AS1', 'score': 0.44}]
chr3 GH03I010995 10995434 10995569 0.2 [{'connected_gene': 'SLC6A1', 'score': 22.09}, {'connected_gene': 'SLC6A1-AS1', 'score': 12.68}]
chr3 GH03I010999 10999783 11000352 0.2 [{'connected_gene': 'SLC6A1', 'score': 0.44}, {'connected_gene': 'SLC6A1-AS1', 'score': 0.37}]
chr3 GH03I010997 10997550 10997732 0.2 [{'connected_gene': 'SLC6A1', 'score': 14.68}, {'connected_gene': 'SLC6A1-AS1', 'score': 12.68}]
chr3 GH03I011003 11003892 11008144 0.57 [{'connected_gene': 'SLC6A1', 'score': 0.39}, {'connected_gene': 'SLC6A1-AS1', 'score': 0.39}]
chr3 GH03I011004 10995991 10996302 0.2 [{'connected_gene': 'SLC6A1', 'score': 22.1}, {'connected_gene': 'SLC6A1-AS1', 'score': 12.68}]
chr3 GH03I011000 11000512 11002992 0.81 [{'connected_gene': 'SLC6A1', 'score': 0.44}, {'connected_gene': 'SLC6A1-AS1', 'score': 0.37}]
chr3 GH03I010504 10504082 10504395 0.42 [{'connected_gene': 'ATP2B2', 'score': 8.52}, {'connected_gene': 'SLC6A1', 'score': 2.22}, {'connected_gene': 'GC03M010552', 'score': 0.25}, {'connected_gene': 'GC03P010586', 'score': 0.19}]
chr3 GH03I010932 10932989 10934774 0.63 [{'connected_gene': 'LOC105376950', 'score': 0.44}, {'connected_gene': 'SLC6A1', 'score': 0.22}, {'connected_gene': 'SLC6A11', 'score': 0.13}]
chr3 GH03I010948 10948067 10951660 0.67 [{'connected_gene': 'LOC105376950', 'score': 0.34}, {'connected_gene': 'SLC6A1', 'score': 0.26}]
chr3 GH03I011548 11548436 11550001 0.89 [{'connected_gene': 'ATG7', 'score': 6.18}, {'connected_gene': 'SLC6A1', 'score': 4.81}, {'connected_gene': 'PIR57794', 'score': 0.44}, {'connected_gene': 'GC03P011536', 'score': 0.39}]
chr3 GH03I011495 11495310 11496865 1.28 [{'connected_gene': 'ATG7', 'score': 6.36}, {'connected_gene': 'SLC6A1', 'score': 4.9}, {'connected_gene': 'ENSG00000235240', 'score': 0.44}, {'connected_gene': 'ENSG00000270531', 'score': 0.29}]
chr3 GH03I011060 11060601 11061982 0.86 [{'connected_gene': 'LOC101927467', 'score': 550.77}, {'connected_gene': 'SLC6A1-AS1', 'score': 11.29}, {'connected_gene': 'SLC6A1', 'score': 11.24}]
chr3 GH03I011139 11139575 11141319 1.09 [{'connected_gene': 'SLC6A1-AS1', 'score': 10.78}, {'connected_gene': 'SLC6A1', 'score': 10.77}, {'connected_gene': 'HRH1', 'score': 0.77}, {'connected_gene': 'LOC105376951', 'score': 0.39}]
chr3 GH03I011130 11130770 11131982 0.2 [{'connected_gene': 'SLC6A1-AS1', 'score': 10.52}, {'connected_gene': 'SLC6A1', 'score': 10.5}, {'connected_gene': 'HRH1', 'score': 0.44}, {'connected_gene': 'LOC101927467', 'score': 0.2}]
chr3 GH03I011119 11119318 11121266 0.38 [{'connected_gene': 'SLC6A1-AS1', 'score': 10.58}, {'connected_gene': 'SLC6A1', 'score': 10.56}, {'connected_gene': 'HRH1', 'score': 0.37}, {'connected_gene': 'LOC101927467', 'score': 0.22}]
chr3 GH03I011128 11128505 11130070 0.2 [{'connected_gene': 'SLC6A1-AS1', 'score': 10.52}, {'connected_gene': 'SLC6A1', 'score': 10.5}, {'connected_gene': 'TAMM41', 'score': 4.11}, {'connected_gene': 'HRH1', 'score': 0.44}, {'connected_gene': 'LOC101927467', 'score': 0.2}]
chr3 GH03I011171 11171441 11173229 0.66 [{'connected_gene': 'SLC6A1-AS1', 'score': 10.38}, {'connected_gene': 'SLC6A1', 'score': 10.37}, {'connected_gene': 'LOC105376951', 'score': 0.37}, {'connected_gene': 'LOC102723663', 'score': 0.29}, {'connected_gene': 'HRH1', 'score': 0.28}]
chr3 GH03I011194 11194937 11198513 1.18 [{'connected_gene': 'SLC6A1-AS1', 'score': 10.29}, {'connected_gene': 'SLC6A1', 'score': 10.27}, {'connected_gene': 'ATG7', 'score': 4.72}, {'connected_gene': 'LOC102723663', 'score': 0.39}, {'connected_gene': 'LOC105376951', 'score': 0.26}, {'connected_gene': 'HRH1', 'score': 0.22}]
chr3 GH03I011182 11182312 11187555 1.3 [{'connected_gene': 'SLC6A1-AS1', 'score': 10.41}, {'connected_gene': 'SLC6A1', 'score': 10.39}, {'connected_gene': 'LOC102723663', 'score': 0.34}, {'connected_gene': 'LOC105376951', 'score': 0.29}, {'connected_gene': 'HRH1', 'score': 0.25}]
chr3 GH03I011072 11072600 11073072 0.2 [{'connected_gene': 'SLC6A1-AS1', 'score': 10.76}, {'connected_gene': 'SLC6A1', 'score': 10.71}, {'connected_gene': 'LOC101927467', 'score': 0.39}, {'connected_gene': 'HRH1', 'score': 0.21}]
chr3 GH03I011016 11016687 11024355 0.64 [{'connected_gene': 'SLC6A1-AS1', 'score': 550.77}, {'connected_gene': 'SLC6A1', 'score': 0.31}, {'connected_gene': 'LOC101927467', 'score': 0.26}]
chr3 GH03I011002 10995706 10995930 0.2 [{'connected_gene': 'SLC6A1-AS1', 'score': 12.68}, {'connected_gene': 'SLC6A1', 'score': 12.49}]
chr3 GH03I010996 10996545 10996700 0.46 [{'connected_gene': 'SLC6A1-AS1', 'score': 12.68}, {'connected_gene': 'SLC6A1', 'score': 0.77}]
chr3 GH03I011001 10997885 10999181 0.67 [{'connected_gene': 'SLC6A1-AS1', 'score': 12.68}, {'connected_gene': 'SLC6A1', 'score': 0.44}]
chr3 GH03I010998 10997119 10997362 0.2 [{'connected_gene': 'SLC6A1-AS1', 'score': 12.68}, {'connected_gene': 'SLC6A1', 'score': 5.28}]
chr3 GH03I011009 11009243 11010990 0.43 [{'connected_gene': 'SLC6A1-AS1', 'score': 0.44}, {'connected_gene': 'SLC6A1', 'score': 0.37}]
chr3 GH03I011005 10994995 10995319 0.31 [{'connected_gene': 'SLC6A1-AS1', 'score': 12.68}, {'connected_gene': 'SLC6A1', 'score': 10.61}]
chr3 GH03I010473 10473464 10475444 0.6 [{'connected_gene': 'MIR885', 'score': 10.15}, {'connected_gene': 'SLC6A1', 'score': 9.48}, {'connected_gene': 'SLC6A1-AS1', 'score': 9.48}, {'connected_gene': 'GC03P010586', 'score': 0.26}, {'connected_gene': 'GC03M010552', 'score': 0.18}, {'connected_gene': 'ATP2B2', 'score': 0.07}]
chr3 GH03I011533 11533815 11535701 0.38 [{'connected_gene': 'GC03P011536', 'score': 550.77}, {'connected_gene': 'SLC6A1', 'score': 5.63}, {'connected_gene': 'ATG7', 'score': 4.73}, {'connected_gene': 'ENSG00000270531', 'score': 0.44}]
chr3 GH03I011198 11198961 11202986 1.17 [{'connected_gene': 'ENSG00000271716', 'score': 13.33}, {'connected_gene': 'TAMM41', 'score': 12.83}, {'connected_gene': 'SEC13', 'score': 11.07}, {'connected_gene': 'SLC6A1-AS1', 'score': 10.28}, {'connected_gene': 'SLC6A1', 'score': 10.27}, {'connected_gene': 'GHRLOS', 'score': 9.76}, {'connected_gene': 'ATG7', 'score': 9.63}, {'connected_gene': 'LOC102723663', 'score': 0.44}, {'connected_gene': 'LOC105376951', 'score': 0.25}, {'connected_gene': 'HRH1', 'score': 0.21}]