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
ENST00000368666 [[112375274, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390889]] [[112375560, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390823]]
ENST00000230529 [[112375277, 112375364], [112375537, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390883]] [[112375560, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390823]]
ENST00000454589 [[112375277, 112375364], [112375537, 112375608], [112382193, 112382491], [112385957, 112386200], [112388171, 112388235], [112389407, 112389601], [112390541, 112390889]] [[112375560, 112375608], [112382193, 112382491], [112385957, 112386200], [112388171, 112388235], [112389407, 112389414]]
ENST00000604763 [[112375277, 112375373], [112375537, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390889]] [[112375560, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390823]]
ENST00000483439 [[112375386, 112375608], [112375825, 112376093]] None
ENST00000368664 [[112375422, 112375608], [112382193, 112382491], [112385957, 112386200], [112388171, 112388235], [112389407, 112389601], [112390541, 112390861]] [[112375506, 112375608], [112382193, 112382491], [112385957, 112386200], [112388171, 112388235], [112389407, 112389414]]
ENST00000361714 [[112375461, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112392171]] [[112375506, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390823]]
ENST00000368663 [[112381215, 112381278], [112382274, 112382497], [112385966, 112386200], [112389407, 112389601], [112390541, 112390889]] [[112381215, 112381278], [112382274, 112382497], [112385966, 112386200], [112389407, 112389601], [112390541, 112390823]]
ENST00000409166 [[112382481, 112382598], [112385957, 112386200], [112388171, 112388235], [112389407, 112389601], [112390541, 112390861]] [[112389490, 112389601], [112390541, 112390823]]
NM_003880 [[112375277, 112375364], [112375537, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390889]] [[112375560, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390823]]
NR_125354 [[112375277, 112375364], [112375537, 112375608], [112382193, 112382491], [112385957, 112386200], [112388171, 112388235], [112389407, 112389601], [112390541, 112390889]] None
NM_198239 [[112375370, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390889]] [[112375506, 112375608], [112382193, 112382491], [112385957, 112386200], [112389407, 112389601], [112390541, 112390823]]
NR_125353 [[112375370, 112375608], [112382193, 112382491], [112385957, 112386200], [112388171, 112388235], [112389407, 112389601], [112390541, 112390889]] None
Promoter
Chrom Start End Description
chr6 112375300 112375334 CAGE_peak_1_at_WISP3_5end
chr6 112375516 112375536 CAGE_peak_2_at_WISP3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I112041 112041789 112046140 1.68 [{'connected_gene': 'WISP3', 'score': 23.08}, {'connected_gene': 'ENSG00000255389', 'score': 21.03}, {'connected_gene': 'FAM229B', 'score': 15.28}, {'connected_gene': 'TRAF3IP2-AS1', 'score': 14.4}, {'connected_gene': 'TUBE1', 'score': 10.76}, {'connected_gene': 'FYN', 'score': 8.09}, {'connected_gene': 'TRAF3IP2', 'score': 1.84}, {'connected_gene': 'GC06M111982', 'score': 0.21}]
chr6 GH06I112115 112115591 112118657 0.6 [{'connected_gene': 'WISP3', 'score': 17.43}, {'connected_gene': 'FAM229B', 'score': 17.3}, {'connected_gene': 'ENSG00000237234', 'score': 11.66}, {'connected_gene': 'TUBE1', 'score': 11.02}, {'connected_gene': 'ENSG00000255389', 'score': 4.27}, {'connected_gene': 'LAMA4', 'score': 0.12}]
chr6 GH06I112112 112112718 112115424 0.56 [{'connected_gene': 'WISP3', 'score': 19.22}, {'connected_gene': 'FAM229B', 'score': 18.75}, {'connected_gene': 'ENSG00000237234', 'score': 11.64}, {'connected_gene': 'TUBE1', 'score': 11.02}, {'connected_gene': 'RNU6-1226P', 'score': 9.99}, {'connected_gene': 'LAMA4', 'score': 9.92}, {'connected_gene': 'LOC100128588', 'score': 9.64}]
chr6 GH06I112107 112107504 112107531 0.22 [{'connected_gene': 'WISP3', 'score': 19.2}, {'connected_gene': 'FAM229B', 'score': 11.1}, {'connected_gene': 'LAMA4', 'score': 1.65}, {'connected_gene': 'TUBE1', 'score': 0.37}, {'connected_gene': 'ENSG00000237234', 'score': 0.25}]
chr6 GH06I112036 112036591 112040724 1.34 [{'connected_gene': 'WISP3', 'score': 21.07}, {'connected_gene': 'FAM229B', 'score': 15.91}, {'connected_gene': 'TRAF3IP2', 'score': 15.26}, {'connected_gene': 'FYN', 'score': 11.23}, {'connected_gene': 'TUBE1', 'score': 10.74}, {'connected_gene': 'GC06M111982', 'score': 0.22}]
chr6 GH06I112048 112048268 112050420 0.43 [{'connected_gene': 'WISP3', 'score': 23.41}, {'connected_gene': 'ENSG00000255389', 'score': 6.02}, {'connected_gene': 'FAM229B', 'score': 4.46}, {'connected_gene': 'GC06M111982', 'score': 0.2}]
chr6 GH06I112054 112054055 112054114 0.61 [{'connected_gene': 'WISP3', 'score': 574.6}, {'connected_gene': 'FAM229B', 'score': 0.29}]
chr6 GH06I112135 112135683 112138034 0.2 [{'connected_gene': 'WISP3', 'score': 14.35}, {'connected_gene': 'ENSG00000255389', 'score': 6.07}, {'connected_gene': 'ENSG00000237234', 'score': 0.37}, {'connected_gene': 'TUBE1', 'score': 0.25}, {'connected_gene': 'LAMA4', 'score': 0.13}]
chr6 GH06I112030 112030337 112031061 0.74 [{'connected_gene': 'WISP3', 'score': 0.34}, {'connected_gene': 'GC06M111982', 'score': 0.25}]
chr6 GH06I112086 112086401 112088400 2 [{'connected_gene': 'TUBE1', 'score': 550.77}, {'connected_gene': 'FAM229B', 'score': 550.77}, {'connected_gene': 'WISP3', 'score': 22.3}, {'connected_gene': 'ENSG00000237234', 'score': 10.93}]
chr6 GH06I112026 112026781 112030173 1.43 [{'connected_gene': 'FYN', 'score': 19.73}, {'connected_gene': 'TRAF3IP2-AS1', 'score': 10.45}, {'connected_gene': 'WISP3', 'score': 4.81}, {'connected_gene': 'GC06M111982', 'score': 0.25}]
chr6 GH06I112033 112033358 112034812 0.49 [{'connected_gene': 'FYN', 'score': 11.22}, {'connected_gene': 'TUBE1', 'score': 10.42}, {'connected_gene': 'FAM229B', 'score': 10.42}, {'connected_gene': 'TRAF3IP2', 'score': 10.28}, {'connected_gene': 'WISP3', 'score': 5.5}, {'connected_gene': 'GC06M111982', 'score': 0.23}]
chr6 GH06I111992 111992320 111994278 1.31 [{'connected_gene': 'FYN', 'score': 14.12}, {'connected_gene': 'TRAF3IP2', 'score': 3.55}, {'connected_gene': 'GC06M111982', 'score': 0.39}, {'connected_gene': 'WISP3', 'score': 0.21}]
chr6 GH06I112003 112003270 112008719 1.26 [{'connected_gene': 'TRAF3IP2', 'score': 1.83}, {'connected_gene': 'GC06M111982', 'score': 0.34}, {'connected_gene': 'WISP3', 'score': 0.25}]
chr6 GH06I112015 112015659 112017439 1.25 [{'connected_gene': 'TRAF3IP2', 'score': 3.88}, {'connected_gene': 'FYN', 'score': 1.25}, {'connected_gene': 'GC06M111982', 'score': 0.29}, {'connected_gene': 'WISP3', 'score': 0.28}]
chr6 GH06I112035 112035414 112035804 0.5 [{'connected_gene': 'TRAF3IP2', 'score': 11.72}, {'connected_gene': 'FYN', 'score': 11.22}, {'connected_gene': 'TUBE1', 'score': 10.42}, {'connected_gene': 'FAM229B', 'score': 10.42}, {'connected_gene': 'WISP3', 'score': 0.37}, {'connected_gene': 'GC06M111982', 'score': 0.23}]
chr6 GH06I112013 112013908 112015464 0.86 [{'connected_gene': 'LINC02527', 'score': 4.36}, {'connected_gene': 'GC06M111982', 'score': 0.29}, {'connected_gene': 'WISP3', 'score': 0.28}]
chr6 GH06I112324 112324817 112326490 0.31 [{'connected_gene': 'LOC100128588', 'score': 550.77}, {'connected_gene': 'GC06M112326', 'score': 550.77}, {'connected_gene': 'WISP3', 'score': 4.43}, {'connected_gene': 'GC06M112324', 'score': 0.77}, {'connected_gene': 'LAMA4', 'score': 0.19}, {'connected_gene': 'ENSG00000281613', 'score': 0.17}]
chr6 GH06I111988 111988788 111990874 0.72 [{'connected_gene': 'GC06M111982', 'score': 0.44}, {'connected_gene': 'WISP3', 'score': 0.21}]
chr6 GH06I112014 112013072 112013416 0.53 [{'connected_gene': 'GC06M111982', 'score': 0.29}, {'connected_gene': 'WISP3', 'score': 0.26}]
chr6 GH06I112119 112119111 112120717 0.2 [{'connected_gene': 'ENSG00000237234', 'score': 11.08}, {'connected_gene': 'TUBE1', 'score': 10.81}, {'connected_gene': 'FAM229B', 'score': 10.81}, {'connected_gene': 'WISP3', 'score': 5.66}, {'connected_gene': 'LAMA4', 'score': 0.12}]
chr6 GH06I111996 111996066 111998915 1.33 [{'connected_gene': 'ENSG00000220506', 'score': 11.57}, {'connected_gene': 'FYN', 'score': 11.27}, {'connected_gene': 'LINC02527', 'score': 4.98}, {'connected_gene': 'GC06M111982', 'score': 0.39}, {'connected_gene': 'WISP3', 'score': 0.22}]
chr6 GH06I112018 112018175 112020040 1.38 [{'connected_gene': 'ENSG00000237234', 'score': 4.47}, {'connected_gene': 'LINC02527', 'score': 4.36}, {'connected_gene': 'WISP3', 'score': 0.29}, {'connected_gene': 'GC06M111982', 'score': 0.28}]
chr6 GH06I111984 111984036 111987607 1.34 [{'connected_gene': 'ENSG00000255389', 'score': 5.23}, {'connected_gene': 'LINC02527', 'score': 5.16}, {'connected_gene': 'TRAF3IP2', 'score': 3.61}, {'connected_gene': 'LOC105377947', 'score': 0.77}, {'connected_gene': 'GC06M111982', 'score': 0.77}, {'connected_gene': 'WISP3', 'score': 0.2}]
chr6 GH06I112231 112231251 112238449 1.56 [{'connected_gene': 'ENSG00000226440', 'score': 557.7}, {'connected_gene': 'ENSG00000271208', 'score': 550.77}, {'connected_gene': 'ENSG00000281613', 'score': 550.77}, {'connected_gene': 'LOC101927640', 'score': 550.77}, {'connected_gene': 'LAMA4', 'score': 11.31}, {'connected_gene': 'LOC100128588', 'score': 10.17}, {'connected_gene': 'WISP3', 'score': 5.5}]