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
ENST00000454177 [[43328003, 43328167], [43331231, 43331281], [43341245, 43341307], [43344589, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43390330]] [[43344695, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43390049]]
ENST00000429705 [[43328029, 43328167], [43344589, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43392635]] [[43344695, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43390049]]
ENST00000296088 [[43328031, 43328167], [43341245, 43341307], [43344589, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43392630]] [[43344695, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43390049]]
ENST00000437827 [[43328077, 43328167], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43390245]] [[43373689, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43390049]]
ENST00000481892 [[43384727, 43384970], [43388830, 43389098]] None
ENST00000462810 [[43344603, 43345284], [43373660, 43374882]] None
ENST00000484791 [[43373657, 43373802], [43381778, 43382173]] None
ENST00000468628 [[43384842, 43384970], [43403258, 43403360], [43466016, 43466256]] None
NM_001330750 [[43328003, 43328167], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43392635]] [[43373689, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43390049]]
NM_001100594 [[43328003, 43328167], [43344589, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43392635]] [[43344695, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43390049]]
NM_017719 [[43328003, 43328167], [43341245, 43341307], [43344589, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43392635]] [[43344695, 43345284], [43373660, 43373802], [43381778, 43381991], [43384835, 43384970], [43388830, 43390049]]
Promoter
Chrom Start End Description
chr3 43328024 43328095 CAGE_peak_1_at_SNRK_5end
chr3 43328098 43328127 CAGE_peak_2_at_SNRK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I043476 43476175 43479015 1.18 [{'connected_gene': 'ANO10', 'score': 7.12}, {'connected_gene': 'SNRK', 'score': 4.68}, {'connected_gene': 'ENSG00000271941', 'score': 4.6}, {'connected_gene': 'ENSG00000251811', 'score': 0.44}, {'connected_gene': 'RPL18AP9', 'score': 0.44}, {'connected_gene': 'GC03M043165', 'score': 0.04}]
chr3 GH03I043341 43341981 43343184 0.2 [{'connected_gene': 'ANO10', 'score': 6.35}, {'connected_gene': 'ENSG00000271941', 'score': 0.44}, {'connected_gene': 'RN7SL517P', 'score': 0.31}, {'connected_gene': 'SNRK', 'score': 0.22}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043362 43362618 43365040 0.69 [{'connected_gene': 'ANO10', 'score': 6.79}, {'connected_gene': 'SNRK-AS1', 'score': 0.39}, {'connected_gene': 'SNRK', 'score': 0.18}, {'connected_gene': 'ENSG00000251811', 'score': 0.14}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043248 43248200 43248401 0.2 [{'connected_gene': 'SNRK', 'score': 11.69}, {'connected_gene': 'ABHD5', 'score': 5.8}, {'connected_gene': 'LOC105377052', 'score': 0.39}, {'connected_gene': 'GC03P043190', 'score': 0.22}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043387 43387774 43392143 1.55 [{'connected_gene': 'SNRK', 'score': 36.95}, {'connected_gene': 'ABHD5', 'score': 18.6}, {'connected_gene': 'SNRK-AS1', 'score': 17.14}, {'connected_gene': 'ENSG00000271941', 'score': 5.53}, {'connected_gene': 'ANO10', 'score': 4.21}, {'connected_gene': 'ENSG00000251811', 'score': 0.18}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043255 43255801 43257474 0.88 [{'connected_gene': 'SNRK', 'score': 30.66}, {'connected_gene': 'ABHD5', 'score': 18.66}, {'connected_gene': 'SNRK-AS1', 'score': 10.46}, {'connected_gene': 'CCDC13', 'score': 8.45}, {'connected_gene': 'LOC105377052', 'score': 0.44}, {'connected_gene': 'GC03P043190', 'score': 0.2}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043249 43249533 43249729 0.34 [{'connected_gene': 'SNRK', 'score': 11.69}, {'connected_gene': 'CCDC13', 'score': 1.28}, {'connected_gene': 'LOC105377052', 'score': 0.39}, {'connected_gene': 'GC03P043190', 'score': 0.22}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043285 43285146 43293798 2.19 [{'connected_gene': 'SNRK', 'score': 550.77}, {'connected_gene': 'RN7SL517P', 'score': 0.31}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043294 43294401 43301427 1.62 [{'connected_gene': 'SNRK', 'score': 550.39}, {'connected_gene': 'RN7SL517P', 'score': 0.37}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043243 43243782 43244553 0.43 [{'connected_gene': 'SNRK', 'score': 17.49}, {'connected_gene': 'LOC105377052', 'score': 0.37}, {'connected_gene': 'GC03P043190', 'score': 0.23}, {'connected_gene': 'GC03M043165', 'score': 0.02}]
chr3 GH03I043246 43246201 43247800 0.58 [{'connected_gene': 'SNRK', 'score': 11.69}, {'connected_gene': 'LOC105377052', 'score': 0.37}, {'connected_gene': 'GC03P043190', 'score': 0.22}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043213 43213064 43216492 0.76 [{'connected_gene': 'SNRK', 'score': 6.35}, {'connected_gene': 'GC03P043190', 'score': 0.34}, {'connected_gene': 'LOC105377052', 'score': 0.25}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043217 43217320 43218047 0.2 [{'connected_gene': 'SNRK', 'score': 10.6}, {'connected_gene': 'GC03P043190', 'score': 0.31}, {'connected_gene': 'LOC105377052', 'score': 0.26}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043392 43392778 43395293 1.18 [{'connected_gene': 'SNRK', 'score': 28.08}, {'connected_gene': 'SNRK-AS1', 'score': 16.32}, {'connected_gene': 'ABHD5', 'score': 13.35}, {'connected_gene': 'ANO10', 'score': 6.27}, {'connected_gene': 'ENSG00000251811', 'score': 0.18}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043310 43310281 43312191 0.31 [{'connected_gene': 'SNRK', 'score': 11.84}, {'connected_gene': 'SNRK-AS1', 'score': 11.26}, {'connected_gene': 'ENSG00000271941', 'score': 6.35}, {'connected_gene': 'RN7SL517P', 'score': 0.77}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043307 43307359 43308220 0.31 [{'connected_gene': 'SNRK', 'score': 11.84}, {'connected_gene': 'SNRK-AS1', 'score': 10.69}, {'connected_gene': 'RN7SL517P', 'score': 0.44}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043259 43259249 43260535 0.38 [{'connected_gene': 'SNRK', 'score': 11.52}, {'connected_gene': 'SNRK-AS1', 'score': 10.46}, {'connected_gene': 'LOC105377052', 'score': 0.77}, {'connected_gene': 'GC03P043190', 'score': 0.2}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043258 43258601 43258800 0.31 [{'connected_gene': 'SNRK', 'score': 11.52}, {'connected_gene': 'SNRK-AS1', 'score': 10.46}, {'connected_gene': 'LOC105377052', 'score': 0.77}, {'connected_gene': 'GC03P043190', 'score': 0.2}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I044104 44104604 44105866 0.74 [{'connected_gene': 'ZNF852', 'score': 11.87}, {'connected_gene': 'RNU6-367P', 'score': 11.24}, {'connected_gene': 'ZNF502', 'score': 10.9}, {'connected_gene': 'SNRK', 'score': 10.31}, {'connected_gene': 'ENSG00000261786', 'score': 7.47}, {'connected_gene': 'GC03P044115', 'score': 0.44}, {'connected_gene': 'GC03M044082', 'score': 0.34}]
chr3 GH03I043178 43178382 43182079 1.62 [{'connected_gene': 'ACKR2', 'score': 4.89}, {'connected_gene': 'CCDC13', 'score': 3.32}, {'connected_gene': 'SNRK', 'score': 1.51}, {'connected_gene': 'GC03P043189', 'score': 0.44}, {'connected_gene': 'LOC105377051', 'score': 0.31}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043395 43395767 43396090 0.44 [{'connected_gene': 'LOC101928323', 'score': 4.82}, {'connected_gene': 'ZNF662', 'score': 1.4}, {'connected_gene': 'FAM198A', 'score': 1.27}, {'connected_gene': 'SNRK-AS1', 'score': 0.26}, {'connected_gene': 'ENSG00000251811', 'score': 0.18}, {'connected_gene': 'SNRK', 'score': 0.14}, {'connected_gene': 'ANO10', 'score': 0.06}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043325 43325768 43328999 0.97 [{'connected_gene': 'SNRK-AS1', 'score': 13.08}, {'connected_gene': 'SNRK', 'score': 11.48}, {'connected_gene': 'ANO10', 'score': 5.79}, {'connected_gene': 'RN7SL517P', 'score': 0.39}, {'connected_gene': 'ENSG00000271941', 'score': 0.34}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043321 43321039 43322123 0.2 [{'connected_gene': 'SNRK-AS1', 'score': 11.97}, {'connected_gene': 'SNRK', 'score': 10.99}, {'connected_gene': 'ENSG00000271941', 'score': 6.77}, {'connected_gene': 'ANO10', 'score': 5.53}, {'connected_gene': 'RN7SL517P', 'score': 0.44}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043378 43378001 43379800 0.8 [{'connected_gene': 'SNRK-AS1', 'score': 4.92}, {'connected_gene': 'ENSG00000251811', 'score': 0.16}, {'connected_gene': 'SNRK', 'score': 0.16}, {'connected_gene': 'ANO10', 'score': 0.06}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043373 43373401 43373800 0.31 [{'connected_gene': 'SNRK-AS1', 'score': 0.34}, {'connected_gene': 'SNRK', 'score': 0.17}, {'connected_gene': 'ENSG00000251811', 'score': 0.15}, {'connected_gene': 'ANO10', 'score': 0.06}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043366 43366800 43367000 0.2 [{'connected_gene': 'SNRK-AS1', 'score': 0.39}, {'connected_gene': 'SNRK', 'score': 0.18}, {'connected_gene': 'ENSG00000251811', 'score': 0.14}, {'connected_gene': 'ANO10', 'score': 0.05}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043372 43372909 43373058 0.2 [{'connected_gene': 'SNRK-AS1', 'score': 0.34}, {'connected_gene': 'SNRK', 'score': 0.17}, {'connected_gene': 'ENSG00000251811', 'score': 0.15}, {'connected_gene': 'ANO10', 'score': 0.06}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043405 43405814 43406878 0.57 [{'connected_gene': 'SNRK-AS1', 'score': 0.23}, {'connected_gene': 'ENSG00000251811', 'score': 0.2}, {'connected_gene': 'SNRK', 'score': 0.13}, {'connected_gene': 'ANO10', 'score': 0.06}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043360 43360429 43361138 0.38 [{'connected_gene': 'SNRK-AS1', 'score': 0.44}, {'connected_gene': 'SNRK', 'score': 0.19}, {'connected_gene': 'ENSG00000251811', 'score': 0.14}, {'connected_gene': 'ANO10', 'score': 0.06}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043399 43399129 43399278 0.51 [{'connected_gene': 'SNRK-AS1', 'score': 0.25}, {'connected_gene': 'ENSG00000251811', 'score': 0.19}, {'connected_gene': 'SNRK', 'score': 0.14}, {'connected_gene': 'ANO10', 'score': 0.06}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043316 43316673 43319000 1.26 [{'connected_gene': 'SNRK-AS1', 'score': 12.0}, {'connected_gene': 'SNRK', 'score': 11.64}, {'connected_gene': 'ABHD5', 'score': 4.79}, {'connected_gene': 'RN7SL517P', 'score': 0.77}, {'connected_gene': 'ENSG00000271941', 'score': 0.31}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043319 43319086 43319757 0.51 [{'connected_gene': 'SNRK-AS1', 'score': 12.0}, {'connected_gene': 'SNRK', 'score': 11.64}, {'connected_gene': 'RN7SL517P', 'score': 0.77}, {'connected_gene': 'ENSG00000271941', 'score': 0.31}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043323 43323206 43324453 0.54 [{'connected_gene': 'SNRK-AS1', 'score': 11.99}, {'connected_gene': 'SNRK', 'score': 10.99}, {'connected_gene': 'RN7SL517P', 'score': 0.44}, {'connected_gene': 'ENSG00000271941', 'score': 0.34}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043331 43331200 43331400 0.4 [{'connected_gene': 'SNRK-AS1', 'score': 13.08}, {'connected_gene': 'RN7SL517P', 'score': 0.37}, {'connected_gene': 'ENSG00000271941', 'score': 0.37}, {'connected_gene': 'SNRK', 'score': 0.26}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043272 43272894 43274235 0.2 [{'connected_gene': 'SNRK-AS1', 'score': 11.54}, {'connected_gene': 'LOC105377052', 'score': 0.39}, {'connected_gene': 'SNRK', 'score': 0.39}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043343 43343331 43350724 0.58 [{'connected_gene': 'ENSG00000271941', 'score': 550.77}, {'connected_gene': 'SNRK', 'score': 10.5}, {'connected_gene': 'SNRK-AS1', 'score': 0.77}, {'connected_gene': 'RN7SL517P', 'score': 0.29}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043869 43869281 43874312 1.28 [{'connected_gene': 'ENSG00000261786', 'score': 21.02}, {'connected_gene': 'ZNF852', 'score': 11.86}, {'connected_gene': 'ZNF662', 'score': 11.35}, {'connected_gene': 'ZNF502', 'score': 10.89}, {'connected_gene': 'RNU6-367P', 'score': 10.69}, {'connected_gene': 'SNRK', 'score': 10.31}, {'connected_gene': 'MIR138-1', 'score': 10.29}, {'connected_gene': 'TOPAZ1', 'score': 9.7}, {'connected_gene': 'ANO10', 'score': 1.47}, {'connected_gene': 'GC03P043926', 'score': 0.23}, {'connected_gene': 'ENSG00000235886', 'score': 0.16}, {'connected_gene': 'GC03M043165', 'score': 0.15}]
chr3 GH03I044031 44031696 44033592 0.83 [{'connected_gene': 'GC03M044031', 'score': 550.77}, {'connected_gene': 'RNU6-367P', 'score': 10.99}, {'connected_gene': 'ENSG00000261786', 'score': 6.17}, {'connected_gene': 'SNRK', 'score': 5.15}, {'connected_gene': 'TCAIM', 'score': 4.24}]
chr3 GH03I043423 43423329 43423478 0.43 [{'connected_gene': 'ENSG00000251811', 'score': 0.25}, {'connected_gene': 'SNRK-AS1', 'score': 0.19}, {'connected_gene': 'SNRK', 'score': 0.12}, {'connected_gene': 'ANO10', 'score': 0.06}, {'connected_gene': 'GC03M043165', 'score': 0.03}]
chr3 GH03I043418 43418229 43419250 0.58 [{'connected_gene': 'ENSG00000251811', 'score': 0.23}, {'connected_gene': 'SNRK-AS1', 'score': 0.2}, {'connected_gene': 'SNRK', 'score': 0.12}, {'connected_gene': 'ANO10', 'score': 0.06}, {'connected_gene': 'GC03M043165', 'score': 0.03}]