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
ENST00000376503 [[99336054, 99337169], [99338443, 99338551], [99339834, 99339978], [99340501, 99340610], [99340723, 99340831], [99354733, 99354783], [99356542, 99356689], [99358387, 99358507], [99360939, 99361021], [99361825, 99361914], [99361995, 99362028], [99362120, 99362165], [99364107, 99364197], [99364751, 99364838], [99368131, 99368214], [99371490, 99371574], [99373748, 99373839], [99374057, 99374157], [99376165, 99376285], [99378376, 99378518], [99378621, 99378703], [99379096, 99379113], [99404848, 99404908]] [[99336977, 99337169], [99338443, 99338551], [99339834, 99339978], [99340501, 99340610], [99340723, 99340831], [99354733, 99354783], [99356542, 99356689], [99358387, 99358507], [99360939, 99361021], [99361825, 99361914], [99361995, 99362028], [99362120, 99362165], [99364107, 99364197], [99364751, 99364838], [99368131, 99368214], [99371490, 99371574], [99373748, 99373839], [99374057, 99374157], [99376165, 99376285], [99378376, 99378518], [99378621, 99378703], [99379096, 99379113], [99404848, 99404852]]
ENST00000376494 [[99372780, 99373839], [99374057, 99374157], [99376165, 99376285], [99378376, 99378518], [99378621, 99378821]] None
NM_005073 [[99336054, 99337169], [99338443, 99338551], [99339834, 99339978], [99340501, 99340610], [99340723, 99340831], [99354733, 99354783], [99356542, 99356689], [99358387, 99358507], [99360939, 99361021], [99361825, 99361914], [99361995, 99362028], [99362120, 99362165], [99364107, 99364197], [99364751, 99364838], [99368131, 99368214], [99371490, 99371574], [99373748, 99373839], [99374057, 99374157], [99376165, 99376285], [99378376, 99378518], [99378621, 99378703], [99379096, 99379113], [99404848, 99404929]] [[99336977, 99337169], [99338443, 99338551], [99339834, 99339978], [99340501, 99340610], [99340723, 99340831], [99354733, 99354783], [99356542, 99356689], [99358387, 99358507], [99360939, 99361021], [99361825, 99361914], [99361995, 99362028], [99362120, 99362165], [99364107, 99364197], [99364751, 99364838], [99368131, 99368214], [99371490, 99371574], [99373748, 99373839], [99374057, 99374157], [99376165, 99376285], [99378376, 99378518], [99378621, 99378703], [99379096, 99379113], [99404848, 99404852]]
Promoter
Chrom Start End Description
chr13 99404875 99404942 CAGE_peak_1_at_SLC15A1_5end
chr13 99404955 99404962 CAGE_peak_3_at_SLC15A1_5end
chr13 99405077 99405084 CAGE_peak_5_at_SLC15A1_5end
chr13 99405113 99405134 CAGE_peak_2_at_SLC15A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I098653 98653391 98654076 0.89 [{'connected_gene': 'STK24', 'score': 11.6}, {'connected_gene': 'STK24-AS1', 'score': 11.6}, {'connected_gene': 'SLC15A1', 'score': 5.43}, {'connected_gene': 'CALM2P4', 'score': 0.39}, {'connected_gene': 'GC13P098672', 'score': 0.37}]
chr13 GH13I098647 98647157 98652385 1.14 [{'connected_gene': 'STK24', 'score': 11.9}, {'connected_gene': 'STK24-AS1', 'score': 11.9}, {'connected_gene': 'SLC15A1', 'score': 5.96}, {'connected_gene': 'GPR183', 'score': 5.07}, {'connected_gene': 'CALM2P4', 'score': 0.44}, {'connected_gene': 'GC13P098672', 'score': 0.34}]
chr13 GH13I098722 98722392 98723962 0.46 [{'connected_gene': 'SLC15A1', 'score': 7.66}, {'connected_gene': 'RN7SL60P', 'score': 0.23}]
chr13 GH13I098688 98688487 98688636 0.31 [{'connected_gene': 'SLC15A1', 'score': 12.09}, {'connected_gene': 'RN7SL60P', 'score': 0.37}]
chr13 GH13I098771 98771191 98773655 0.72 [{'connected_gene': 'SLC15A1', 'score': 7.05}, {'connected_gene': 'LOC105370330', 'score': 0.39}, {'connected_gene': 'DOCK9-AS1', 'score': 0.22}]
chr13 GH13I098755 98755059 98756414 0.8 [{'connected_gene': 'SLC15A1', 'score': 0.77}, {'connected_gene': 'LOC105370330', 'score': 0.77}]
chr13 GH13I098730 98730370 98733994 0.66 [{'connected_gene': 'SLC15A1', 'score': 12.77}, {'connected_gene': 'DOCK9-AS1', 'score': 10.35}, {'connected_gene': 'DOCK9', 'score': 10.25}, {'connected_gene': 'RN7SL60P', 'score': 0.21}]
chr13 GH13I098729 98729050 98730145 0.2 [{'connected_gene': 'SLC15A1', 'score': 12.77}, {'connected_gene': 'DOCK9-AS1', 'score': 9.91}, {'connected_gene': 'DOCK9', 'score': 9.81}, {'connected_gene': 'RN7SL60P', 'score': 0.22}]
chr13 GH13I098775 98775489 98777367 1 [{'connected_gene': 'SLC15A1', 'score': 20.53}, {'connected_gene': 'DOCK9-AS1', 'score': 10.53}, {'connected_gene': 'DOCK9', 'score': 10.37}, {'connected_gene': 'LOC105370330', 'score': 0.37}]
chr13 GH13I098874 98874784 98876151 0.31 [{'connected_gene': 'SLC15A1', 'score': 11.66}, {'connected_gene': 'DOCK9-AS1', 'score': 10.8}, {'connected_gene': 'DOCK9', 'score': 10.62}, {'connected_gene': 'DOCK9-AS2', 'score': 8.07}, {'connected_gene': 'GC13P098878', 'score': 0.77}, {'connected_gene': 'ENSG00000275919', 'score': 0.77}]
chr13 GH13I098737 98737523 98753194 1.95 [{'connected_gene': 'SLC15A1', 'score': 561.48}, {'connected_gene': 'STK24-AS1', 'score': 14.04}, {'connected_gene': 'DOCK9-AS2', 'score': 5.56}, {'connected_gene': 'RN7SL60P', 'score': 0.19}]
chr13 GH13I098784 98784046 98785955 0.79 [{'connected_gene': 'SLC15A1', 'score': 7.66}, {'connected_gene': 'DOCK9-AS2', 'score': 5.15}, {'connected_gene': 'LOC105370330', 'score': 0.31}, {'connected_gene': 'DOCK9-AS1', 'score': 0.25}]
chr13 GH13I098812 98812985 98815598 0.89 [{'connected_gene': 'SLC15A1', 'score': 10.88}, {'connected_gene': 'DOCK9-AS2', 'score': 7.77}, {'connected_gene': 'DOCK9-AS1', 'score': 0.37}, {'connected_gene': 'LOC105370330', 'score': 0.22}, {'connected_gene': 'DOCK9', 'score': 0.06}]
chr13 GH13I098908 98908343 98911570 1.23 [{'connected_gene': 'DOCK9', 'score': 18.9}, {'connected_gene': 'SLC15A1', 'score': 8.69}, {'connected_gene': 'GPR183', 'score': 2.82}, {'connected_gene': 'STK24', 'score': 1.26}, {'connected_gene': 'GC13M098916', 'score': 0.44}, {'connected_gene': 'GC13P098878', 'score': 0.29}]
chr13 GH13I098929 98929362 98931132 0.78 [{'connected_gene': 'DOCK9', 'score': 23.28}, {'connected_gene': 'DOCK9-AS1', 'score': 10.48}, {'connected_gene': 'SLC15A1', 'score': 4.96}, {'connected_gene': 'GC13M098916', 'score': 0.39}, {'connected_gene': 'RPL7L1P12', 'score': 0.34}]
chr13 GH13I098889 98889731 98891339 0.69 [{'connected_gene': 'DOCK9', 'score': 16.91}, {'connected_gene': 'RNU6-83P', 'score': 11.51}, {'connected_gene': 'DOCK9-AS2', 'score': 10.56}, {'connected_gene': 'DOCK9-AS1', 'score': 10.43}, {'connected_gene': 'SLC15A1', 'score': 8.02}, {'connected_gene': 'GC13P098878', 'score': 0.39}, {'connected_gene': 'GC13M098916', 'score': 0.31}]
chr13 GH13I098938 98938847 98941175 0.78 [{'connected_gene': 'DOCK9', 'score': 12.53}, {'connected_gene': 'DOCK9-AS2', 'score': 10.54}, {'connected_gene': 'SLC15A1', 'score': 5.42}, {'connected_gene': 'RPL7L1P12', 'score': 0.39}, {'connected_gene': 'GC13M098916', 'score': 0.34}]
chr13 GH13I098913 98913609 98914863 0.2 [{'connected_gene': 'DOCK9', 'score': 10.27}, {'connected_gene': 'DOCK9-AS2', 'score': 9.81}, {'connected_gene': 'SLC15A1', 'score': 9.48}, {'connected_gene': 'GC13M098916', 'score': 0.77}, {'connected_gene': 'GC13P098878', 'score': 0.28}]
chr13 GH13I098765 98765372 98768190 0.4 [{'connected_gene': 'DOCK9-AS1', 'score': 10.38}, {'connected_gene': 'DOCK9', 'score': 10.23}, {'connected_gene': 'SLC15A1', 'score': 6.12}, {'connected_gene': 'LOC105370330', 'score': 0.44}]
chr13 GH13I098856 98856170 98858557 0.43 [{'connected_gene': 'DOCK9-AS1', 'score': 11.63}, {'connected_gene': 'DOCK9', 'score': 11.39}, {'connected_gene': 'SLC15A1', 'score': 9.07}, {'connected_gene': 'DOCK9-AS2', 'score': 8.59}, {'connected_gene': 'ENSG00000275919', 'score': 0.39}]
chr13 GH13I098800 98800872 98805071 0.72 [{'connected_gene': 'DOCK9-AS1', 'score': 11.34}, {'connected_gene': 'DOCK9', 'score': 11.09}, {'connected_gene': 'DOCK9-AS2', 'score': 6.92}, {'connected_gene': 'SLC15A1', 'score': 6.22}, {'connected_gene': 'LOC105370330', 'score': 0.26}]
chr13 GH13I098915 98915632 98916875 0.2 [{'connected_gene': 'DOCK9-AS2', 'score': 9.81}, {'connected_gene': 'SLC15A1', 'score': 9.52}, {'connected_gene': 'GC13M098916', 'score': 0.77}, {'connected_gene': 'GC13P098878', 'score': 0.28}, {'connected_gene': 'DOCK9', 'score': 0.09}]
chr13 GH13I098819 98819139 98823764 1.12 [{'connected_gene': 'DOCK9-AS2', 'score': 6.8}, {'connected_gene': 'SLC15A1', 'score': 5.28}, {'connected_gene': 'DOCK9-AS1', 'score': 0.39}, {'connected_gene': 'LOC105370330', 'score': 0.21}, {'connected_gene': 'DOCK9', 'score': 0.06}]
chr13 GH13I098916 98916902 98918171 0.2 [{'connected_gene': 'GC13M098916', 'score': 550.77}, {'connected_gene': 'SLC15A1', 'score': 9.58}, {'connected_gene': 'DOCK9-AS2', 'score': 9.56}, {'connected_gene': 'GC13P098878', 'score': 0.28}, {'connected_gene': 'DOCK9', 'score': 0.09}]
chr13 GH13I098878 98878305 98880636 0.58 [{'connected_gene': 'GC13P098878', 'score': 550.77}, {'connected_gene': 'DOCK9', 'score': 18.3}, {'connected_gene': 'DOCK9-AS1', 'score': 11.13}, {'connected_gene': 'DOCK9-AS2', 'score': 7.74}, {'connected_gene': 'SLC15A1', 'score': 7.68}, {'connected_gene': 'GC13M098916', 'score': 0.28}]
chr13 GH13I098672 98672770 98674188 1 [{'connected_gene': 'GC13P098672', 'score': 550.77}, {'connected_gene': 'RN7SL60P', 'score': 550.77}, {'connected_gene': 'STK24', 'score': 10.38}, {'connected_gene': 'STK24-AS1', 'score': 10.38}, {'connected_gene': 'SLC15A1', 'score': 6.76}]