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
ENST00000316549 [[142984063, 142985771], [142987716, 142987822], [143082325, 143082405], [143100901, 143100956], [143185878, 143186032], [143212494, 143212606], [143214176, 143214290], [143271203, 143271292], [143292929, 143293035], [143297426, 143297565], [143371096, 143371202], [143412033, 143412149], [143513842, 143513919], [143515667, 143515745], [143550860, 143551063], [143566989, 143567373]] [[142985543, 142985771], [142987716, 142987822], [143082325, 143082405], [143100901, 143100956], [143185878, 143186032], [143212494, 143212606], [143214176, 143214290], [143271203, 143271292], [143292929, 143293035], [143297426, 143297565], [143371096, 143371202], [143412033, 143412149], [143513842, 143513919], [143515667, 143515745], [143550860, 143551063], [143566989, 143567164]]
ENST00000483124 [[143271260, 143271292], [143292929, 143293035], [143297426, 143297565], [143371096, 143371202], [143412033, 143412149], [143416921, 143416991]] None
ENST00000474727 [[143412051, 143412149], [143513842, 143513919], [143515667, 143515745], [143566989, 143567327]] [[143515734, 143515745], [143566989, 143567164]]
ENST00000474151 [[143513854, 143513919], [143550860, 143551063], [143566989, 143567300]] [[143513854, 143513919], [143550860, 143551063], [143566989, 143567164]]
ENST00000498717 [[143566435, 143566825], [143566989, 143567311]] None
NM_173653 [[142984063, 142985771], [142987716, 142987822], [143082325, 143082405], [143100901, 143100956], [143185878, 143186032], [143212494, 143212606], [143214176, 143214290], [143271203, 143271292], [143292929, 143293035], [143297426, 143297565], [143371096, 143371202], [143412033, 143412149], [143513842, 143513919], [143515667, 143515745], [143550860, 143551063], [143566989, 143567373]] [[142985543, 142985771], [142987716, 142987822], [143082325, 143082405], [143100901, 143100956], [143185878, 143186032], [143212494, 143212606], [143214176, 143214290], [143271203, 143271292], [143292929, 143293035], [143297426, 143297565], [143371096, 143371202], [143412033, 143412149], [143513842, 143513919], [143515667, 143515745], [143550860, 143551063], [143566989, 143567164]]
Promoter
Chrom Start End Description
chr3 143567262 143567343 CAGE_peak_1_at_SLC9A9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I143307 143307600 143308200 1.4 [{'connected_gene': 'CHST2', 'score': 1.34}, {'connected_gene': 'ENSG00000240888', 'score': 0.44}, {'connected_gene': 'PBX2P1', 'score': 0.12}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143479 143479607 143481111 0.2 [{'connected_gene': 'CHST2', 'score': 13.17}, {'connected_gene': 'GC03M143504', 'score': 0.34}, {'connected_gene': 'GC03M143367', 'score': 0.34}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143446 143446189 143447154 0.2 [{'connected_gene': 'CHST2', 'score': 10.88}, {'connected_gene': 'GC03M143367', 'score': 0.44}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.2}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143507 143507392 143509402 0.2 [{'connected_gene': 'CHST2', 'score': 9.6}, {'connected_gene': 'GAPDHP47', 'score': 0.77}, {'connected_gene': 'GC03P143515', 'score': 0.44}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143524 143524646 143530365 0.74 [{'connected_gene': 'ATR', 'score': 9.74}, {'connected_gene': 'CHST2', 'score': 9.61}, {'connected_gene': 'GC03M143519', 'score': 0.77}, {'connected_gene': 'GC03P143544', 'score': 0.37}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I144032 144032036 144032203 0.64 [{'connected_gene': 'SLC9A9', 'score': 1.22}, {'connected_gene': 'C3orf58', 'score': 0.21}, {'connected_gene': 'RNA5SP144', 'score': 0.1}]
chr3 GH03I143814 143814398 143815400 0.7 [{'connected_gene': 'SLC9A9', 'score': 19.29}, {'connected_gene': 'C3orf58', 'score': 2.5}, {'connected_gene': 'GC03M143748', 'score': 0.34}]
chr3 GH03I143846 143846988 143851971 1.98 [{'connected_gene': 'SLC9A9', 'score': 550.77}, {'connected_gene': 'RPS17P10', 'score': 0.44}]
chr3 GH03I143786 143786601 143787205 0.58 [{'connected_gene': 'SLC9A9', 'score': 11.71}, {'connected_gene': 'GC03M143748', 'score': 0.44}, {'connected_gene': 'GC03M143614', 'score': 0.13}]
chr3 GH03I143775 143775424 143776025 0.64 [{'connected_gene': 'SLC9A9', 'score': 11.33}, {'connected_gene': 'GC03M143748', 'score': 0.37}, {'connected_gene': 'GC03M143614', 'score': 0.13}]
chr3 GH03I143821 143821000 143821200 0.31 [{'connected_gene': 'SLC9A9', 'score': 10.75}, {'connected_gene': 'GC03M143748', 'score': 0.31}]
chr3 GH03I143822 143822001 143822800 0.38 [{'connected_gene': 'SLC9A9', 'score': 11.37}, {'connected_gene': 'GC03M143748', 'score': 0.31}]
chr3 GH03I143805 143805599 143805748 0.2 [{'connected_gene': 'SLC9A9', 'score': 5.22}, {'connected_gene': 'GC03M143748', 'score': 0.39}]
chr3 GH03I143806 143806010 143808183 0.51 [{'connected_gene': 'SLC9A9', 'score': 15.32}, {'connected_gene': 'GC03M143748', 'score': 0.39}]
chr3 GH03I143824 143824345 143826799 0.51 [{'connected_gene': 'SLC9A9', 'score': 11.49}, {'connected_gene': 'GC03M143748', 'score': 0.29}]
chr3 GH03I143808 143808486 143810059 0.43 [{'connected_gene': 'SLC9A9', 'score': 11.96}, {'connected_gene': 'GC03M143748', 'score': 0.37}]
chr3 GH03I143442 143442454 143445873 1.57 [{'connected_gene': 'U2SURP', 'score': 22.76}, {'connected_gene': 'ATR', 'score': 12.83}, {'connected_gene': 'XRN1', 'score': 10.16}, {'connected_gene': 'CHST2', 'score': 9.59}, {'connected_gene': 'GC03M143367', 'score': 0.39}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.21}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143830 143830826 143831866 1.01 [{'connected_gene': 'C3orf58', 'score': 1.45}, {'connected_gene': 'SLC9A9', 'score': 0.37}, {'connected_gene': 'GC03M143748', 'score': 0.28}]
chr3 GH03I143382 143382697 143386543 0.2 [{'connected_gene': 'SLC9A9-AS2', 'score': 0.77}, {'connected_gene': 'GC03M143367', 'score': 0.19}, {'connected_gene': 'SLC9A9', 'score': 0.04}]
chr3 GH03I143633 143633731 143634054 0.31 [{'connected_gene': 'LOC102724120', 'score': 550.77}, {'connected_gene': 'GC03P143653', 'score': 0.37}, {'connected_gene': 'GC03M143614', 'score': 0.31}, {'connected_gene': 'SLC9A9', 'score': 0.08}]
chr3 GH03I143435 143435659 143437566 0.4 [{'connected_gene': 'SLC9A9-AS1', 'score': 9.89}, {'connected_gene': 'CHST2', 'score': 6.8}, {'connected_gene': 'GC03M143367', 'score': 0.34}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.22}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143281 143281478 143283481 0.84 [{'connected_gene': 'SLC9A9-AS1', 'score': 10.92}, {'connected_gene': 'ENSG00000240888', 'score': 0.29}, {'connected_gene': 'PBX2P1', 'score': 0.14}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143294 143294093 143296164 0.31 [{'connected_gene': 'SLC9A9-AS1', 'score': 10.82}, {'connected_gene': 'ENSG00000240888', 'score': 0.37}, {'connected_gene': 'PBX2P1', 'score': 0.13}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143301 143301792 143303865 0.85 [{'connected_gene': 'SLC9A9-AS1', 'score': 11.11}, {'connected_gene': 'ENSG00000240888', 'score': 0.39}, {'connected_gene': 'PBX2P1', 'score': 0.13}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143298 143298708 143299333 0.2 [{'connected_gene': 'SLC9A9-AS1', 'score': 10.73}, {'connected_gene': 'ENSG00000240888', 'score': 0.37}, {'connected_gene': 'PBX2P1', 'score': 0.13}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143342 143342368 143346163 0.38 [{'connected_gene': 'SLC9A9-AS1', 'score': 0.77}, {'connected_gene': 'GC03P143367', 'score': 0.34}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143673 143673810 143675128 0.95 [{'connected_gene': 'SLC9A9-AS1', 'score': 9.93}, {'connected_gene': 'GC03M143614', 'score': 0.39}, {'connected_gene': 'GC03M143748', 'score': 0.13}, {'connected_gene': 'SLC9A9', 'score': 0.09}]
chr3 GH03I143353 143353001 143353400 0.2 [{'connected_gene': 'SLC9A9-AS1', 'score': 0.39}, {'connected_gene': 'GC03P143367', 'score': 0.39}, {'connected_gene': 'SLC9A9', 'score': 0.04}]
chr3 GH03I143352 143352001 143352400 0.2 [{'connected_gene': 'SLC9A9-AS1', 'score': 0.44}, {'connected_gene': 'GC03P143367', 'score': 0.37}, {'connected_gene': 'SLC9A9', 'score': 0.04}]
chr3 GH03I143348 143348142 143350097 0.69 [{'connected_gene': 'SLC9A9-AS1', 'score': 5.92}, {'connected_gene': 'GC03P143367', 'score': 0.37}, {'connected_gene': 'SLC9A9', 'score': 0.04}]
chr3 GH03I143346 143346673 143348097 0.31 [{'connected_gene': 'SLC9A9-AS1', 'score': 0.44}, {'connected_gene': 'GC03P143367', 'score': 0.34}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143329 143329801 143330000 0.49 [{'connected_gene': 'SLC9A9-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000240888', 'score': 0.37}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143378 143378109 143379044 0.2 [{'connected_gene': 'SLC9A9-AS1', 'score': 11.58}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.77}, {'connected_gene': 'GC03P143367', 'score': 0.39}, {'connected_gene': 'GC03M143367', 'score': 0.18}, {'connected_gene': 'SLC9A9', 'score': 0.04}]
chr3 GH03I142875 142875997 142881382 0.56 [{'connected_gene': 'LOC100507389', 'score': 11.05}, {'connected_gene': 'PAQR9-AS1', 'score': 10.88}, {'connected_gene': 'PAQR9', 'score': 10.88}, {'connected_gene': 'RNA5SP143', 'score': 9.43}, {'connected_gene': 'PLS1', 'score': 9.43}, {'connected_gene': 'SLC9A9', 'score': 5.46}, {'connected_gene': 'PCOLCE2', 'score': 0.39}, {'connected_gene': 'RPL8P3', 'score': 0.23}]
chr3 GH03I143518 143518001 143518400 0.5 [{'connected_gene': 'ST13P15', 'score': 550.77}, {'connected_gene': 'CHST2', 'score': 7.4}, {'connected_gene': 'GC03P143515', 'score': 0.77}, {'connected_gene': 'SLC9A9', 'score': 0.06}]
chr3 GH03I143313 143313893 143314962 0.2 [{'connected_gene': 'ENSG00000240888', 'score': 550.77}, {'connected_gene': 'PBX2P1', 'score': 0.12}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143266 143266150 143267204 0.54 [{'connected_gene': 'ENSG00000240888', 'score': 0.25}, {'connected_gene': 'PBX2P1', 'score': 0.16}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143736 143736105 143737793 0.2 [{'connected_gene': 'GC03M143748', 'score': 0.22}, {'connected_gene': 'GC03M143614', 'score': 0.18}, {'connected_gene': 'SLC9A9', 'score': 0.14}]
chr3 GH03I143594 143594399 143594548 0.46 [{'connected_gene': 'GC03P143608', 'score': 0.39}, {'connected_gene': 'GC03P143544', 'score': 0.23}, {'connected_gene': 'SLC9A9', 'score': 0.07}]
chr3 GH03I143600 143600921 143602417 0.93 [{'connected_gene': 'GC03P143608', 'score': 0.44}, {'connected_gene': 'GC03P143544', 'score': 0.22}, {'connected_gene': 'SLC9A9', 'score': 0.07}]
chr3 GH03I143687 143687605 143687883 0.22 [{'connected_gene': 'GC03M143614', 'score': 0.31}, {'connected_gene': 'GC03M143748', 'score': 0.15}, {'connected_gene': 'SLC9A9', 'score': 0.1}]
chr3 GH03I143668 143668497 143670619 0.62 [{'connected_gene': 'GC03M143614', 'score': 0.44}, {'connected_gene': 'GC03M143748', 'score': 0.13}, {'connected_gene': 'SLC9A9', 'score': 0.1}]
chr3 GH03I143751 143751169 143753088 0.43 [{'connected_gene': 'GC03M143748', 'score': 0.26}, {'connected_gene': 'GC03M143614', 'score': 0.16}, {'connected_gene': 'SLC9A9', 'score': 0.15}]
chr3 GH03I143597 143597080 143597605 0.71 [{'connected_gene': 'GC03P143608', 'score': 0.39}, {'connected_gene': 'GC03P143544', 'score': 0.23}, {'connected_gene': 'SLC9A9', 'score': 0.07}]
chr3 GH03I143585 143585602 143587003 0.49 [{'connected_gene': 'GC03P143608', 'score': 0.34}, {'connected_gene': 'GC03P143544', 'score': 0.26}, {'connected_gene': 'SLC9A9', 'score': 0.07}]
chr3 GH03I143535 143535832 143539438 0.89 [{'connected_gene': 'GC03P143544', 'score': 0.44}, {'connected_gene': 'GC03M143519', 'score': 0.39}, {'connected_gene': 'SLC9A9', 'score': 0.06}]
chr3 GH03I143431 143431413 143431742 0.33 [{'connected_gene': 'GC03M143367', 'score': 0.31}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.23}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143430 143430603 143431065 0.43 [{'connected_gene': 'GC03M143367', 'score': 0.31}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.25}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143643 143643795 143645216 0.56 [{'connected_gene': 'GC03P143653', 'score': 0.44}, {'connected_gene': 'LOC102724120', 'score': 0.39}, {'connected_gene': 'GC03M143614', 'score': 0.37}, {'connected_gene': 'SLC9A9', 'score': 0.08}]
chr3 GH03I143358 143358068 143366261 0.69 [{'connected_gene': 'GC03P143367', 'score': 0.44}, {'connected_gene': 'SLC9A9-AS1', 'score': 0.37}, {'connected_gene': 'SLC9A9', 'score': 0.04}]
chr3 GH03I143608 143608097 143609718 0.2 [{'connected_gene': 'GC03P143608', 'score': 550.77}, {'connected_gene': 'LOC100128739', 'score': 0.39}, {'connected_gene': 'SLC9A9', 'score': 0.07}]

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