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
ENST00000341307 [[63448917, 63449250], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63525627, 63527354]] [[63449108, 63449250], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63525627, 63525747]]
ENST00000356000 [[63448921, 63449250], [63472322, 63472379], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527337]] [[63449108, 63449250], [63472322, 63472379], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
ENST00000542238 [[63448929, 63449250], [63514418, 63514496], [63517462, 63517670], [63519978, 63520106]] [[63449108, 63449250], [63514418, 63514496], [63517462, 63517670], [63519978, 63520106]]
ENST00000538995 [[63448945, 63449250], [63481442, 63481951]] None
ENST00000377819 [[63448954, 63449250], [63472322, 63472379], [63486173, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527357]] [[63449108, 63449250], [63472322, 63472379], [63486173, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
ENST00000339997 [[63448954, 63449250], [63486173, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527363]] [[63449108, 63449250], [63486173, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
ENST00000540798 [[63448967, 63449250], [63486452, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525893]] [[63449108, 63449250], [63486452, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
ENST00000545432 [[63448971, 63449250], [63472322, 63472379], [63486452, 63486661]] [[63449108, 63449250], [63472322, 63472379], [63486452, 63486661]]
ENST00000543552 [[63448971, 63449250], [63486419, 63486669]] [[63449108, 63449250], [63486419, 63486669]]
ENST00000543123 [[63448971, 63449250], [63517462, 63517895]] None
ENST00000536011 [[63448971, 63449250], [63517462, 63517670], [63520540, 63520610], [63521133, 63521180], [63525627, 63526015]] [[63449108, 63449250], [63517462, 63517670], [63520540, 63520562]]
ENST00000537981 [[63448971, 63449250], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527357]] [[63449108, 63449250], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
ENST00000338850 [[63449010, 63449250], [63472322, 63472379], [63481442, 63481638]] None
ENST00000354497 [[63449044, 63449250], [63517462, 63517670], [63523583, 63523642], [63525627, 63526561]] [[63449108, 63449250], [63517462, 63517670], [63523583, 63523642], [63525627, 63525863]]
NM_001265591 [[63448921, 63449250], [63517462, 63517670], [63523583, 63523642], [63525627, 63527363]] [[63449108, 63449250], [63517462, 63517670], [63523583, 63523642], [63525627, 63525863]]
NR_049751 [[63448921, 63449250], [63517462, 63517670], [63520540, 63520610], [63521133, 63521180], [63525627, 63527363]] None
NR_049750 [[63448921, 63449250], [63517462, 63517670], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527363]] None
NM_201430 [[63448921, 63449250], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63525627, 63527363]] [[63449108, 63449250], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63525627, 63525747]]
NM_006054 [[63448921, 63449250], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527363]] [[63449108, 63449250], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
NM_001265590 [[63448921, 63449250], [63486452, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527363]] [[63449108, 63449250], [63486452, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
NM_201428 [[63448921, 63449250], [63486173, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527363]] [[63449108, 63449250], [63486173, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
NM_201429 [[63448921, 63449250], [63472322, 63472379], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527363]] [[63449108, 63449250], [63472322, 63472379], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
NM_001265589 [[63448921, 63449250], [63472322, 63472379], [63486173, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63527363]] [[63449108, 63449250], [63472322, 63472379], [63486173, 63488504], [63517462, 63517670], [63519978, 63520117], [63520540, 63520610], [63521133, 63521180], [63523583, 63523642], [63525627, 63525673]]
Promoter
Chrom Start End Description
chr11 63448936 63448947 CAGE_peak_3_at_RTN3_5end
chr11 63448962 63448982 CAGE_peak_1_at_RTN3_5end
chr11 63449077 63449099 CAGE_peak_2_at_RTN3_5end
chr11 63527205 63527210 CAGE_peak_5_at_RTN3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I063937 63937499 63940298 2.04 [{'connected_gene': 'NAA40', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 11.47}, {'connected_gene': 'RTN3', 'score': 5.14}, {'connected_gene': 'RCOR2', 'score': 5.14}, {'connected_gene': 'GC11M063921', 'score': 0.39}, {'connected_gene': 'GC11P063909', 'score': 0.29}, {'connected_gene': 'GC11P063911', 'score': 0.29}]
chr11 GH11I063865 63865496 63875253 1.43 [{'connected_gene': 'NAA40', 'score': 17.74}, {'connected_gene': 'MARK2', 'score': 12.42}, {'connected_gene': 'SPINDOC', 'score': 11.07}, {'connected_gene': 'RTN3', 'score': 10.22}, {'connected_gene': 'PLA2G16', 'score': 5.8}, {'connected_gene': 'LOC105369340', 'score': 4.57}, {'connected_gene': 'GC11M063862', 'score': 0.44}, {'connected_gene': 'RNU6-1306P', 'score': 0.39}]
chr11 GH11I063760 63760569 63770351 2.35 [{'connected_gene': 'C11orf95', 'score': 550.77}, {'connected_gene': 'ATL3', 'score': 25.35}, {'connected_gene': 'LOC105369332', 'score': 18.43}, {'connected_gene': 'NXF1', 'score': 14.16}, {'connected_gene': 'ENSG00000257086', 'score': 14.07}, {'connected_gene': 'WDR74', 'score': 14.01}, {'connected_gene': 'STX5', 'score': 12.35}, {'connected_gene': 'PLCB3', 'score': 11.63}, {'connected_gene': 'SNHG1', 'score': 11.26}, {'connected_gene': 'RTN3', 'score': 5.01}, {'connected_gene': 'GC11M063761', 'score': 0.77}]
chr11 GH11I063502 63502053 63504338 1.02 [{'connected_gene': 'RARRES3', 'score': 11.95}, {'connected_gene': 'ENSG00000203520', 'score': 11.66}, {'connected_gene': 'PLA2G16', 'score': 11.66}, {'connected_gene': 'ENSG00000256789', 'score': 10.79}, {'connected_gene': 'ATL3', 'score': 10.16}, {'connected_gene': 'MARK2', 'score': 4.3}, {'connected_gene': 'RTN3', 'score': 3.23}, {'connected_gene': 'LGALS12', 'score': 2.03}, {'connected_gene': 'HRASLS5', 'score': 0.39}]
chr11 GH11I063784 63784086 63784689 0.59 [{'connected_gene': 'ATL3', 'score': 14.98}, {'connected_gene': 'SPINDOC', 'score': 12.66}, {'connected_gene': 'NAA40', 'score': 10.65}, {'connected_gene': 'RTN3', 'score': 10.59}, {'connected_gene': 'RN7SL596P', 'score': 0.39}, {'connected_gene': 'C11orf95', 'score': 0.37}]
chr11 GH11I063728 63728933 63728949 0.27 [{'connected_gene': 'ATL3', 'score': 10.91}, {'connected_gene': 'ENSG00000256789', 'score': 10.35}, {'connected_gene': 'NAA40', 'score': 1.56}, {'connected_gene': 'GC11M063761', 'score': 0.29}, {'connected_gene': 'ENSG00000271100', 'score': 0.29}, {'connected_gene': 'RTN3', 'score': 0.25}]
chr11 GH11I063718 63718176 63724264 0.52 [{'connected_gene': 'ATL3', 'score': 24.7}, {'connected_gene': 'RTN3', 'score': 19.93}, {'connected_gene': 'PLA2G16', 'score': 14.59}, {'connected_gene': 'ENSG00000256789', 'score': 10.84}, {'connected_gene': 'ENSG00000203520', 'score': 10.28}, {'connected_gene': 'SPINDOC', 'score': 10.15}, {'connected_gene': 'ENSG00000271100', 'score': 0.34}, {'connected_gene': 'GC11M063761', 'score': 0.26}]
chr11 GH11I063713 63713104 63717378 0.38 [{'connected_gene': 'ATL3', 'score': 25.49}, {'connected_gene': 'RTN3', 'score': 20.22}, {'connected_gene': 'PLA2G16', 'score': 10.45}, {'connected_gene': 'ENSG00000203520', 'score': 10.45}, {'connected_gene': 'ENSG00000256789', 'score': 10.36}, {'connected_gene': 'ENSG00000271100', 'score': 0.37}, {'connected_gene': 'GC11M063761', 'score': 0.25}]
chr11 GH11I063710 63710129 63711396 1.11 [{'connected_gene': 'ATL3', 'score': 13.55}, {'connected_gene': 'ENSG00000271100', 'score': 0.39}, {'connected_gene': 'RTN3', 'score': 0.31}, {'connected_gene': 'GC11M063761', 'score': 0.23}]
chr11 GH11I063688 63688614 63690000 1.3 [{'connected_gene': 'ATL3', 'score': 13.67}, {'connected_gene': 'RTN3', 'score': 0.44}, {'connected_gene': 'ENSG00000271100', 'score': 0.44}]
chr11 GH11I063837 63837309 63843823 2.44 [{'connected_gene': 'MARK2', 'score': 556.33}, {'connected_gene': 'SF1', 'score': 20.23}, {'connected_gene': 'SNHG1', 'score': 17.0}, {'connected_gene': 'NAA40', 'score': 12.18}, {'connected_gene': 'RNU6-1306P', 'score': 12.03}, {'connected_gene': 'PLCB3', 'score': 11.12}, {'connected_gene': 'CCND2P1', 'score': 5.01}, {'connected_gene': 'COX8A', 'score': 4.78}, {'connected_gene': 'FERMT3', 'score': 3.57}, {'connected_gene': 'RTN3', 'score': 1.83}, {'connected_gene': 'LGALS12', 'score': 1.32}, {'connected_gene': 'GC11M063862', 'score': 0.34}]
chr11 GH11I063602 63602400 63603998 1.51 [{'connected_gene': 'PLA2G16', 'score': 19.16}, {'connected_gene': 'ATL3', 'score': 6.47}, {'connected_gene': 'RTN3', 'score': 2.97}, {'connected_gene': 'ENSG00000203520', 'score': 0.39}, {'connected_gene': 'LOC105369335', 'score': 0.31}, {'connected_gene': 'GC11M063550', 'score': 0.18}]
chr11 GH11I063581 63581979 63583876 1.44 [{'connected_gene': 'PLA2G16', 'score': 3.44}, {'connected_gene': 'RTN3', 'score': 1.61}, {'connected_gene': 'LOC105369335', 'score': 0.44}, {'connected_gene': 'ENSG00000203520', 'score': 0.29}, {'connected_gene': 'GC11M063550', 'score': 0.15}]
chr11 GH11I063478 63478909 63479201 1.22 [{'connected_gene': 'NXF1', 'score': 20.33}, {'connected_gene': 'CSKMT', 'score': 18.91}, {'connected_gene': 'GANAB', 'score': 17.63}, {'connected_gene': 'SNHG1', 'score': 17.01}, {'connected_gene': 'EML3', 'score': 16.15}, {'connected_gene': 'INTS5', 'score': 13.77}, {'connected_gene': 'STX5', 'score': 13.73}, {'connected_gene': 'MTA2', 'score': 12.78}, {'connected_gene': 'ENSG00000256789', 'score': 11.99}, {'connected_gene': 'TUT1', 'score': 11.59}, {'connected_gene': 'TAF6L', 'score': 11.56}, {'connected_gene': 'LOC105369332', 'score': 11.48}, {'connected_gene': 'PLCB3', 'score': 11.1}, {'connected_gene': 'ENSG00000203520', 'score': 11.04}, {'connected_gene': 'PLA2G16', 'score': 11.04}, {'connected_gene': 'HRASLS2', 'score': 10.84}, {'connected_gene': 'TMEM179B', 'score': 10.32}, {'connected_gene': 'RTN3', 'score': 10.21}, {'connected_gene': 'UBXN1', 'score': 10.12}, {'connected_gene': 'LOC100533643', 'score': 0.44}, {'connected_gene': 'HRASLS5', 'score': 0.39}]
chr11 GH11I063806 63806201 63806400 0.31 [{'connected_gene': 'RTN3', 'score': 6.17}, {'connected_gene': 'RN7SL596P', 'score': 0.44}, {'connected_gene': 'SPINDOC', 'score': 0.44}]
chr11 GH11I063680 63680405 63683760 2.27 [{'connected_gene': 'RTN3', 'score': 550.77}, {'connected_gene': 'GC11M063550', 'score': 550.77}, {'connected_gene': 'NXF1', 'score': 21.74}, {'connected_gene': 'ATL3', 'score': 15.08}, {'connected_gene': 'IMMP1LP1', 'score': 13.96}, {'connected_gene': 'TAF6L', 'score': 13.45}, {'connected_gene': 'LOC105369332', 'score': 12.58}, {'connected_gene': 'PLCB3', 'score': 12.32}, {'connected_gene': 'STX5', 'score': 11.77}, {'connected_gene': 'TMEM179B', 'score': 9.84}, {'connected_gene': 'ENSG00000271100', 'score': 0.37}]
chr11 GH11I063687 63687801 63688000 0.4 [{'connected_gene': 'RTN3', 'score': 0.44}, {'connected_gene': 'ENSG00000271100', 'score': 0.39}]
chr11 GH11I063697 63697847 63700491 0.65 [{'connected_gene': 'ENSG00000271100', 'score': 550.77}, {'connected_gene': 'ATL3', 'score': 25.72}, {'connected_gene': 'ENSG00000256789', 'score': 10.61}, {'connected_gene': 'SPINDOC', 'score': 10.11}, {'connected_gene': 'PLA2G16', 'score': 9.1}, {'connected_gene': 'RTN3', 'score': 0.37}, {'connected_gene': 'GC11M063761', 'score': 0.21}]
chr11 GH11I064405 64405826 64408029 0.96 [{'connected_gene': 'GC11P064406', 'score': 550.77}, {'connected_gene': 'POLA2', 'score': 33.85}, {'connected_gene': 'PLCB3', 'score': 29.31}, {'connected_gene': 'SF1', 'score': 28.36}, {'connected_gene': 'ZFPL1', 'score': 24.42}, {'connected_gene': 'FAU', 'score': 21.32}, {'connected_gene': 'FRMD8', 'score': 18.88}, {'connected_gene': 'NAALADL1', 'score': 15.13}, {'connected_gene': 'RPS6KA4', 'score': 13.61}, {'connected_gene': 'ENSG00000231680', 'score': 13.59}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'ATL3', 'score': 12.18}, {'connected_gene': 'SYVN1', 'score': 11.79}, {'connected_gene': 'ENSG00000257086', 'score': 11.47}, {'connected_gene': 'PPP1R14B', 'score': 11.29}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'ATG2A', 'score': 9.74}, {'connected_gene': 'RTN3', 'score': 9.67}, {'connected_gene': 'MEN1', 'score': 4.35}, {'connected_gene': 'LOC105369341', 'score': 0.39}]
chr11 GH11I063862 63862244 63863640 1.23 [{'connected_gene': 'GC11M063862', 'score': 550.77}, {'connected_gene': 'MARK2', 'score': 12.47}, {'connected_gene': 'NAA40', 'score': 11.55}, {'connected_gene': 'SPINDOC', 'score': 11.1}, {'connected_gene': 'RTN3', 'score': 10.23}, {'connected_gene': 'ENSG00000256341', 'score': 9.35}, {'connected_gene': 'COX8A', 'score': 4.97}, {'connected_gene': 'RNU6-1306P', 'score': 0.37}]
chr11 GH11I063738 63738849 63739018 0.67 [{'connected_gene': 'GC11M063761', 'score': 0.34}, {'connected_gene': 'ENSG00000271100', 'score': 0.26}, {'connected_gene': 'RTN3', 'score': 0.22}]

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