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
ENST00000503771 [[45265957, 45267770]] [[45266616, 45267519]]
NM_015444 [[45265955, 45267814]] [[45266616, 45267519]]
Promoter
Chrom Start End Description
chr3 45266600 45266635 CAGE_peak_2_at_TMEM158_5end
chr3 45266648 45266677 CAGE_peak_3_at_TMEM158_5end
chr3 45267760 45267826 CAGE_peak_1_at_TMEM158_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I045130 45130418 45141564 1.72 [{'connected_gene': 'ZNF502', 'score': 25.82}, {'connected_gene': 'ZNF852', 'score': 25.25}, {'connected_gene': 'RN7SL145P', 'score': 24.84}, {'connected_gene': 'ZNF35', 'score': 19.15}, {'connected_gene': 'ZNF197', 'score': 12.87}, {'connected_gene': 'RNU5B-3P', 'score': 10.74}, {'connected_gene': 'CLEC3B', 'score': 10.71}, {'connected_gene': 'TMEM158', 'score': 10.51}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZDHHC3', 'score': 10.13}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'ENSG00000202268', 'score': 9.78}, {'connected_gene': 'CDCP1', 'score': 9.36}, {'connected_gene': 'LOC105377059', 'score': 0.2}]
chr3 GH03I045052 45052688 45066370 1.72 [{'connected_gene': 'ZNF502', 'score': 29.2}, {'connected_gene': 'ZNF852', 'score': 25.25}, {'connected_gene': 'RN7SL145P', 'score': 24.84}, {'connected_gene': 'CLEC3B', 'score': 19.26}, {'connected_gene': 'ZNF35', 'score': 19.16}, {'connected_gene': 'CDCP1', 'score': 16.37}, {'connected_gene': 'ZNF197', 'score': 15.66}, {'connected_gene': 'ZNF660', 'score': 15.3}, {'connected_gene': 'EXOSC7', 'score': 12.21}, {'connected_gene': 'RNU5B-3P', 'score': 11.07}, {'connected_gene': 'TMEM158', 'score': 10.63}, {'connected_gene': 'ENSG00000202268', 'score': 10.23}, {'connected_gene': 'ZDHHC3', 'score': 10.2}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'LIMD1', 'score': 9.48}, {'connected_gene': 'TMEM42', 'score': 6.46}, {'connected_gene': 'KIAA1143', 'score': 5.3}, {'connected_gene': 'ZNF501', 'score': 4.21}, {'connected_gene': 'LOC105377059', 'score': 0.44}]
chr3 GH03I045103 45103514 45107225 1.45 [{'connected_gene': 'ZNF502', 'score': 17.76}, {'connected_gene': 'RN7SL145P', 'score': 16.63}, {'connected_gene': 'ZNF852', 'score': 14.04}, {'connected_gene': 'ZNF197', 'score': 12.87}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZNF35', 'score': 10.1}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'TMEM158', 'score': 4.98}, {'connected_gene': 'CDCP1', 'score': 1.67}, {'connected_gene': 'LOC105377059', 'score': 0.28}]
chr3 GH03I045090 45090818 45094622 1.34 [{'connected_gene': 'ZNF502', 'score': 17.81}, {'connected_gene': 'ZNF197', 'score': 13.35}, {'connected_gene': 'FYCO1', 'score': 12.84}, {'connected_gene': 'RN7SL145P', 'score': 12.69}, {'connected_gene': 'CDCP1', 'score': 11.7}, {'connected_gene': 'LIMD1', 'score': 11.2}, {'connected_gene': 'TMEM158', 'score': 10.7}, {'connected_gene': 'XCR1', 'score': 10.29}, {'connected_gene': 'EXOSC7', 'score': 4.55}, {'connected_gene': 'LOC105377059', 'score': 0.34}]
chr3 GH03I045203 45203749 45204880 0.69 [{'connected_gene': 'ZNF35', 'score': 5.89}, {'connected_gene': 'CDCP1', 'score': 4.39}, {'connected_gene': 'LOC101928636', 'score': 0.77}, {'connected_gene': 'TMEM158', 'score': 0.34}]
chr3 GH03I045040 45040601 45041200 1.25 [{'connected_gene': 'CLEC3B', 'score': 11.24}, {'connected_gene': 'EXOSC7', 'score': 11.17}, {'connected_gene': 'TMEM158', 'score': 10.76}, {'connected_gene': 'LARS2-AS1', 'score': 10.46}, {'connected_gene': 'CDCP1', 'score': 10.35}, {'connected_gene': 'LIMD1', 'score': 10.16}, {'connected_gene': 'ENSG00000202268', 'score': 9.63}, {'connected_gene': 'RNU5B-3P', 'score': 0.44}, {'connected_gene': 'LOC105377059', 'score': 0.31}]
chr3 GH03I045042 45042249 45042285 0.76 [{'connected_gene': 'CLEC3B', 'score': 11.23}, {'connected_gene': 'EXOSC7', 'score': 11.17}, {'connected_gene': 'TMEM158', 'score': 11.02}, {'connected_gene': 'LARS2-AS1', 'score': 10.46}, {'connected_gene': 'CDCP1', 'score': 10.36}, {'connected_gene': 'LIMD1', 'score': 10.16}, {'connected_gene': 'ENSG00000202268', 'score': 9.98}, {'connected_gene': 'RNU5B-3P', 'score': 0.44}, {'connected_gene': 'LOC105377059', 'score': 0.31}]
chr3 GH03I045218 45218222 45219829 1.07 [{'connected_gene': 'CDCP1', 'score': 10.79}, {'connected_gene': 'ENSG00000202268', 'score': 10.56}, {'connected_gene': 'CLEC3B', 'score': 10.39}, {'connected_gene': 'RNU5B-3P', 'score': 10.32}, {'connected_gene': 'LINC00694', 'score': 4.88}, {'connected_gene': 'CXCR6', 'score': 4.61}, {'connected_gene': 'TMEM158', 'score': 4.51}, {'connected_gene': 'LOC101928636', 'score': 0.37}]
chr3 GH03I045084 45084209 45086558 0.97 [{'connected_gene': 'CDCP1', 'score': 10.98}, {'connected_gene': 'TMEM158', 'score': 10.6}, {'connected_gene': 'ZNF660', 'score': 10.2}, {'connected_gene': 'RNU5B-3P', 'score': 9.92}, {'connected_gene': 'CLEC3B', 'score': 9.87}, {'connected_gene': 'LIMD1', 'score': 9.31}, {'connected_gene': 'EXOSC7', 'score': 5.37}, {'connected_gene': 'LOC105377059', 'score': 0.37}]
chr3 GH03I045099 45099326 45099485 0.36 [{'connected_gene': 'CDCP1', 'score': 11.71}, {'connected_gene': 'TMEM158', 'score': 10.71}, {'connected_gene': 'ENSG00000202268', 'score': 9.94}, {'connected_gene': 'LOC105377059', 'score': 0.29}]
chr3 GH03I045071 45071517 45072491 0.49 [{'connected_gene': 'CDCP1', 'score': 10.73}, {'connected_gene': 'TMEM158', 'score': 10.46}, {'connected_gene': 'LOC105377059', 'score': 0.77}]
chr3 GH03I045100 45100752 45101555 1.24 [{'connected_gene': 'CDCP1', 'score': 11.58}, {'connected_gene': 'TMEM158', 'score': 10.27}, {'connected_gene': 'LOC105377059', 'score': 0.29}]
chr3 GH03I045088 45088385 45089537 0.74 [{'connected_gene': 'CDCP1', 'score': 11.67}, {'connected_gene': 'TMEM158', 'score': 10.29}, {'connected_gene': 'LOC105377059', 'score': 0.34}]
chr3 GH03I045101 45100170 45100535 0.53 [{'connected_gene': 'CDCP1', 'score': 11.58}, {'connected_gene': 'TMEM158', 'score': 10.27}, {'connected_gene': 'LOC105377059', 'score': 0.29}]
chr3 GH03I045097 45097395 45097588 0.52 [{'connected_gene': 'CDCP1', 'score': 11.71}, {'connected_gene': 'TMEM158', 'score': 10.71}, {'connected_gene': 'LOC105377059', 'score': 0.31}]
chr3 GH03I045191 45191390 45192566 0.71 [{'connected_gene': 'CDCP1', 'score': 16.09}, {'connected_gene': 'TMEM158', 'score': 12.23}, {'connected_gene': 'ENSG00000202268', 'score': 10.52}, {'connected_gene': 'LOC101928636', 'score': 0.44}, {'connected_gene': 'RPS24P8', 'score': 0.29}]
chr3 GH03I045165 45165590 45170898 1.73 [{'connected_gene': 'CDCP1', 'score': 19.59}, {'connected_gene': 'TMEM158', 'score': 10.91}, {'connected_gene': 'ENSG00000202268', 'score': 10.14}, {'connected_gene': 'LARS2-AS1', 'score': 9.28}, {'connected_gene': 'SLC6A20', 'score': 4.96}, {'connected_gene': 'LIMD1', 'score': 1.48}, {'connected_gene': 'RPS24P8', 'score': 0.44}, {'connected_gene': 'LOC101928636', 'score': 0.29}]
chr3 GH03I045116 45116235 45116628 0.46 [{'connected_gene': 'CDCP1', 'score': 20.28}, {'connected_gene': 'TMEM158', 'score': 10.41}, {'connected_gene': 'RNU5B-3P', 'score': 10.33}, {'connected_gene': 'CLEC3B', 'score': 10.29}, {'connected_gene': 'ENSG00000202268', 'score': 9.56}, {'connected_gene': 'LOC105377059', 'score': 0.25}]
chr3 GH03I045205 45205998 45207063 0.2 [{'connected_gene': 'CDCP1', 'score': 4.81}, {'connected_gene': 'LOC101928636', 'score': 0.44}, {'connected_gene': 'TMEM158', 'score': 0.37}]
chr3 GH03I045269 45269566 45270695 0.89 [{'connected_gene': 'ZNF852', 'score': 13.04}, {'connected_gene': 'TMEM158', 'score': 11.24}, {'connected_gene': 'ZNF35', 'score': 10.77}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'RN7SL145P', 'score': 10.05}, {'connected_gene': 'ZNF502', 'score': 9.91}, {'connected_gene': 'CCR3', 'score': 4.04}, {'connected_gene': 'ENSG00000202268', 'score': 0.39}, {'connected_gene': 'GC03M045255', 'score': 0.39}, {'connected_gene': 'LOC105377061', 'score': 0.28}]
chr3 GH03I045112 45112800 45114303 1.31 [{'connected_gene': 'TMEM158', 'score': 6.57}, {'connected_gene': 'CDCP1', 'score': 0.29}, {'connected_gene': 'LOC105377059', 'score': 0.25}]
chr3 GH03I045196 45196184 45197829 0.31 [{'connected_gene': 'TMEM158', 'score': 4.57}, {'connected_gene': 'CDCP1', 'score': 4.38}, {'connected_gene': 'LOC101928636', 'score': 0.77}, {'connected_gene': 'RPS24P8', 'score': 0.28}]
chr3 GH03I045148 45148665 45149741 0.2 [{'connected_gene': 'TMEM158', 'score': 10.3}, {'connected_gene': 'CDCP1', 'score': 8.38}, {'connected_gene': 'RPS24P8', 'score': 0.39}]
chr3 GH03I045046 45046508 45047313 0.49 [{'connected_gene': 'TMEM158', 'score': 10.91}, {'connected_gene': 'CDCP1', 'score': 10.54}, {'connected_gene': 'ENSG00000202268', 'score': 9.66}, {'connected_gene': 'RNU5B-3P', 'score': 0.39}, {'connected_gene': 'LOC105377059', 'score': 0.34}]
chr3 GH03I045362 45362230 45363676 0.43 [{'connected_gene': 'TMEM158', 'score': 10.35}, {'connected_gene': 'LARS2', 'score': 7.75}, {'connected_gene': 'LOC105377062', 'score': 0.37}, {'connected_gene': 'GC03M045381', 'score': 0.37}]
chr3 GH03I045223 45223549 45226801 2.07 [{'connected_gene': 'TMEM158', 'score': 558.24}, {'connected_gene': 'LINC00694', 'score': 4.88}, {'connected_gene': 'CXCR6', 'score': 4.82}, {'connected_gene': 'LOC101928636', 'score': 0.31}]
chr3 GH03I045210 45210383 45211278 1.31 [{'connected_gene': 'TMEM158', 'score': 6.52}, {'connected_gene': 'LOC101928636', 'score': 0.39}]
chr3 GH03I045224 45223001 45223200 0.4 [{'connected_gene': 'TMEM158', 'score': 0.77}, {'connected_gene': 'LOC101928636', 'score': 0.34}]
chr3 GH03I045213 45213528 45215300 0.2 [{'connected_gene': 'TMEM158', 'score': 5.94}, {'connected_gene': 'LOC101928636', 'score': 0.39}]
chr3 GH03I045163 45163607 45163796 0.48 [{'connected_gene': 'TMEM158', 'score': 10.89}, {'connected_gene': 'RPS24P8', 'score': 0.77}, {'connected_gene': 'LOC101928636', 'score': 0.28}]
chr3 GH03I045252 45252973 45254098 0.52 [{'connected_gene': 'TMEM158', 'score': 9.93}, {'connected_gene': 'ENSG00000202268', 'score': 0.77}, {'connected_gene': 'GC03M045255', 'score': 0.77}]
chr3 GH03I045497 45497847 45498425 0.2 [{'connected_gene': 'LARS2', 'score': 21.78}, {'connected_gene': 'CLEC3B', 'score': 10.65}, {'connected_gene': 'EXOSC7', 'score': 10.64}, {'connected_gene': 'LIMD1', 'score': 10.54}, {'connected_gene': 'TMEM158', 'score': 10.31}, {'connected_gene': 'LARS2-AS1', 'score': 0.39}]
chr3 GH03I045037 45037575 45038298 1.37 [{'connected_gene': 'EXOSC7', 'score': 18.31}, {'connected_gene': 'CLEC3B', 'score': 11.24}, {'connected_gene': 'TMEM158', 'score': 10.76}, {'connected_gene': 'LARS2-AS1', 'score': 10.46}, {'connected_gene': 'CDCP1', 'score': 10.35}, {'connected_gene': 'LIMD1', 'score': 10.16}, {'connected_gene': 'ENSG00000202268', 'score': 9.63}, {'connected_gene': 'ZNF502', 'score': 6.42}, {'connected_gene': 'RNU5B-3P', 'score': 0.77}, {'connected_gene': 'LOC105377059', 'score': 0.29}]
chr3 GH03I045041 45041225 45042223 0.92 [{'connected_gene': 'EXOSC7', 'score': 23.36}, {'connected_gene': 'CLEC3B', 'score': 11.23}, {'connected_gene': 'TMEM158', 'score': 10.77}, {'connected_gene': 'LARS2-AS1', 'score': 10.46}, {'connected_gene': 'CDCP1', 'score': 10.36}, {'connected_gene': 'LIMD1', 'score': 10.16}, {'connected_gene': 'ZNF660', 'score': 10.07}, {'connected_gene': 'ENSG00000202268', 'score': 9.63}, {'connected_gene': 'RNU5B-3P', 'score': 0.44}, {'connected_gene': 'LOC105377059', 'score': 0.31}]
chr3 GH03I045047 45047478 45050278 0.52 [{'connected_gene': 'EXOSC7', 'score': 22.45}, {'connected_gene': 'TMEM158', 'score': 10.91}, {'connected_gene': 'CLEC3B', 'score': 10.8}, {'connected_gene': 'CDCP1', 'score': 10.54}, {'connected_gene': 'ENSG00000202268', 'score': 9.66}, {'connected_gene': 'TMEM42', 'score': 5.36}, {'connected_gene': 'RNU5B-3P', 'score': 0.39}, {'connected_gene': 'LOC105377059', 'score': 0.37}]
chr3 GH03I045043 45043329 45044477 1.49 [{'connected_gene': 'EXOSC7', 'score': 12.53}, {'connected_gene': 'TMEM158', 'score': 11.02}, {'connected_gene': 'CDCP1', 'score': 10.23}, {'connected_gene': 'ENSG00000202268', 'score': 9.98}, {'connected_gene': 'LARS2-AS1', 'score': 9.53}, {'connected_gene': 'RNU5B-3P', 'score': 0.44}, {'connected_gene': 'LOC105377059', 'score': 0.34}]
chr3 GH03I045117 45117655 45128322 1.63 [{'connected_gene': 'RN7SL145P', 'score': 33.45}, {'connected_gene': 'ZNF852', 'score': 31.56}, {'connected_gene': 'LIMD1', 'score': 20.77}, {'connected_gene': 'ZNF502', 'score': 20.45}, {'connected_gene': 'ZNF445', 'score': 18.34}, {'connected_gene': 'TMEM158', 'score': 17.84}, {'connected_gene': 'ZNF197', 'score': 12.87}, {'connected_gene': 'FYCO1', 'score': 12.84}, {'connected_gene': 'CDCP1', 'score': 12.82}, {'connected_gene': 'RNU5B-3P', 'score': 10.33}, {'connected_gene': 'CLEC3B', 'score': 10.32}, {'connected_gene': 'XCR1', 'score': 10.29}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZNF35', 'score': 10.1}, {'connected_gene': 'ENSG00000202268', 'score': 9.66}, {'connected_gene': 'LOC105377059', 'score': 0.23}]
chr3 GH03I045346 45346480 45346586 0.45 [{'connected_gene': 'LOC105377062', 'score': 550.77}, {'connected_gene': 'TMEM158', 'score': 20.86}, {'connected_gene': 'CDCP1', 'score': 9.75}, {'connected_gene': 'GC03M045381', 'score': 0.28}]
chr3 GH03I045067 45067782 45068000 0.54 [{'connected_gene': 'LOC105377059', 'score': 550.77}, {'connected_gene': 'CDCP1', 'score': 18.75}, {'connected_gene': 'RNU5B-3P', 'score': 10.78}, {'connected_gene': 'CLEC3B', 'score': 10.69}, {'connected_gene': 'TMEM158', 'score': 10.6}, {'connected_gene': 'ENSG00000202268', 'score': 10.24}]
chr3 GH03I045066 45066630 45066770 0.86 [{'connected_gene': 'LOC105377059', 'score': 550.77}, {'connected_gene': 'RNU5B-3P', 'score': 10.78}, {'connected_gene': 'CLEC3B', 'score': 10.69}, {'connected_gene': 'CDCP1', 'score': 10.69}, {'connected_gene': 'TMEM158', 'score': 10.6}, {'connected_gene': 'ENSG00000202268', 'score': 10.24}, {'connected_gene': 'EXOSC7', 'score': 7.44}]
chr3 GH03I045068 45067001 45067200 0.4 [{'connected_gene': 'LOC105377059', 'score': 550.77}, {'connected_gene': 'RNU5B-3P', 'score': 10.78}, {'connected_gene': 'CLEC3B', 'score': 10.69}, {'connected_gene': 'CDCP1', 'score': 10.69}, {'connected_gene': 'TMEM158', 'score': 10.6}, {'connected_gene': 'ENSG00000202268', 'score': 10.24}]
chr3 GH03I045198 45198249 45201384 1.33 [{'connected_gene': 'LOC101928636', 'score': 550.77}, {'connected_gene': 'TMEM158', 'score': 6.33}, {'connected_gene': 'CDCP1', 'score': 5.06}, {'connected_gene': 'RPS24P8', 'score': 0.28}]
chr3 GH03I045206 45205249 45205398 0.94 [{'connected_gene': 'LOC101928636', 'score': 0.44}, {'connected_gene': 'TMEM158', 'score': 0.34}]
chr3 GH03I045479 45479095 45481198 0.97 [{'connected_gene': 'LARS2-AS1', 'score': 11.52}, {'connected_gene': 'TMEM158', 'score': 10.4}, {'connected_gene': 'LIMD1', 'score': 10.4}, {'connected_gene': 'CDCP1', 'score': 10.2}, {'connected_gene': 'ENSG00000202268', 'score': 10.08}, {'connected_gene': 'LARS2', 'score': 5.42}]
chr3 GH03I045160 45160844 45161541 0.31 [{'connected_gene': 'RPS24P8', 'score': 550.77}, {'connected_gene': 'TMEM158', 'score': 10.89}, {'connected_gene': 'CDCP1', 'score': 4.92}, {'connected_gene': 'LOC101928636', 'score': 0.28}]
chr3 GH03I045157 45157721 45158884 0.2 [{'connected_gene': 'RPS24P8', 'score': 550.77}, {'connected_gene': 'ENSG00000202268', 'score': 10.65}, {'connected_gene': 'TMEM158', 'score': 10.43}, {'connected_gene': 'CDCP1', 'score': 6.42}]
chr3 GH03I045153 45153677 45155739 0.82 [{'connected_gene': 'ENSG00000202268', 'score': 10.65}, {'connected_gene': 'TMEM158', 'score': 10.42}, {'connected_gene': 'CDCP1', 'score': 7.17}, {'connected_gene': 'ENSG00000236869', 'score': 5.14}, {'connected_gene': 'RPS24P8', 'score': 0.44}]
chr3 GH03I045311 45311424 45313519 0.66 [{'connected_gene': 'ENSG00000202268', 'score': 10.88}, {'connected_gene': 'TMEM158', 'score': 10.36}, {'connected_gene': 'LOC105377061', 'score': 0.77}, {'connected_gene': 'PIR40606', 'score': 0.31}]