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
ENST00000295797 [[169940152, 169940558], [169953017, 169953139], [169977756, 169977846], [169981166, 169981217], [169985702, 169985788], [169988208, 169988349], [169991073, 169991128], [169993016, 169993075], [169998014, 169998191], [169998953, 169999051], [169999669, 169999756], [170002248, 170002384], [170009641, 170009729], [170011170, 170011296], [170013698, 170013778], [170015091, 170015181], [170016782, 170016898], [170020827, 170023769]] [[169940457, 169940558], [169953017, 169953139], [169977756, 169977846], [169981166, 169981217], [169985702, 169985788], [169988208, 169988349], [169991073, 169991128], [169993016, 169993075], [169998014, 169998191], [169998953, 169999051], [169999669, 169999756], [170002248, 170002384], [170009641, 170009729], [170011170, 170011296], [170013698, 170013778], [170015091, 170015181], [170016782, 170016898], [170020827, 170020915]]
ENST00000482353 [[169999397, 169999756], [170002248, 170002384]] None
ENST00000488541 [[169997932, 169998191], [169998953, 169999026]] None
ENST00000493761 [[169998027, 169998191], [169998953, 169999325]] None
ENST00000476635 [[170009429, 170009729], [170011170, 170011296], [170013698, 170013778], [170015091, 170015181], [170016782, 170016898], [170020827, 170023765]] None
ENST00000485837 [[170011119, 170011296], [170013698, 170013778], [170015091, 170015181], [170016782, 170016898], [170020827, 170020953]] None
ENST00000483697 [[170011134, 170011296], [170013698, 170013778], [170015091, 170015116]] None
NM_002740 [[169940219, 169940558], [169953017, 169953139], [169977756, 169977846], [169981166, 169981217], [169985702, 169985788], [169988208, 169988349], [169991073, 169991128], [169993016, 169993075], [169998014, 169998191], [169998953, 169999051], [169999669, 169999756], [170002248, 170002384], [170009641, 170009729], [170011170, 170011296], [170013698, 170013778], [170015091, 170015181], [170016782, 170016898], [170020827, 170023770]] [[169940457, 169940558], [169953017, 169953139], [169977756, 169977846], [169981166, 169981217], [169985702, 169985788], [169988208, 169988349], [169991073, 169991128], [169993016, 169993075], [169998014, 169998191], [169998953, 169999051], [169999669, 169999756], [170002248, 170002384], [170009641, 170009729], [170011170, 170011296], [170013698, 170013778], [170015091, 170015181], [170016782, 170016898], [170020827, 170020915]]
Promoter
Chrom Start End Description
chr3 169940162 169940183 CAGE_peak_4_at_PRKCI_5end
chr3 169940188 169940198 CAGE_peak_5_at_PRKCI_5end
chr3 169940200 169940235 CAGE_peak_2_at_PRKCI_5end
chr3 169940237 169940259 CAGE_peak_3_at_PRKCI_5end
chr3 169940261 169940327 CAGE_peak_1_at_PRKCI_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I170189 170189112 170189600 0.94 [{'connected_gene': 'PHC3', 'score': 0.44}, {'connected_gene': 'PRKCI', 'score': 0.29}]
chr3 GH03I170907 170907391 170910241 2.31 [{'connected_gene': 'EIF5A2', 'score': 555.74}, {'connected_gene': 'PHC3', 'score': 29.19}, {'connected_gene': 'SEC62-AS1', 'score': 22.35}, {'connected_gene': 'RPL22L1', 'score': 18.29}, {'connected_gene': 'PRKCI', 'score': 10.42}, {'connected_gene': 'GC03M170953', 'score': 0.25}]
chr3 GH03I170698 170698852 170700011 1.08 [{'connected_gene': 'MYNN', 'score': 18.73}, {'connected_gene': 'PHC3', 'score': 14.02}, {'connected_gene': 'SEC62-AS1', 'score': 12.07}, {'connected_gene': 'PRKCI', 'score': 10.44}, {'connected_gene': 'RPL22L1', 'score': 9.8}, {'connected_gene': 'CLDN11', 'score': 6.63}, {'connected_gene': 'LOC101928583', 'score': 0.26}, {'connected_gene': 'ENSG00000239739', 'score': 0.26}]
chr3 GH03I170729 170729961 170730822 1.18 [{'connected_gene': 'MYNN', 'score': 18.73}, {'connected_gene': 'PHC3', 'score': 14.02}, {'connected_gene': 'SEC62-AS1', 'score': 12.07}, {'connected_gene': 'PRKCI', 'score': 10.43}, {'connected_gene': 'RPL22L1', 'score': 9.82}, {'connected_gene': 'LOC101928583', 'score': 5.81}, {'connected_gene': 'ENSG00000239739', 'score': 0.39}, {'connected_gene': 'CLDN11', 'score': 0.06}]
chr3 GH03I170764 170764990 170767781 1.19 [{'connected_gene': 'MYNN', 'score': 18.73}, {'connected_gene': 'PHC3', 'score': 14.02}, {'connected_gene': 'SEC62-AS1', 'score': 12.07}, {'connected_gene': 'PRKCI', 'score': 10.42}, {'connected_gene': 'RPL22L1', 'score': 9.86}, {'connected_gene': 'LOC101928583', 'score': 6.11}, {'connected_gene': 'LOC105374211', 'score': 0.77}, {'connected_gene': 'ENSG00000239739', 'score': 0.31}, {'connected_gene': 'CLDN11', 'score': 0.05}]
chr3 GH03I169863 169863513 169863682 0.83 [{'connected_gene': 'MYNN', 'score': 13.4}, {'connected_gene': 'PRKCI', 'score': 11.4}, {'connected_gene': 'SEC62-AS1', 'score': 10.0}, {'connected_gene': 'LRRC31', 'score': 0.44}, {'connected_gene': 'GC03M169659', 'score': 0.28}, {'connected_gene': 'LRRC34', 'score': 0.23}]
chr3 GH03I169771 169771401 169774759 2.11 [{'connected_gene': 'MYNN', 'score': 584.64}, {'connected_gene': 'PIR36992', 'score': 550.77}, {'connected_gene': 'TRV-AAC1-1', 'score': 550.77}, {'connected_gene': 'PHC3', 'score': 16.6}, {'connected_gene': 'PRKCI', 'score': 15.17}, {'connected_gene': 'SEC62-AS1', 'score': 14.08}, {'connected_gene': 'CLDN11', 'score': 9.72}, {'connected_gene': 'LRRC34', 'score': 8.9}, {'connected_gene': 'ENSG00000270096', 'score': 6.89}, {'connected_gene': 'ENSG00000269889', 'score': 0.77}, {'connected_gene': 'ENSG00000269984', 'score': 0.44}, {'connected_gene': 'GC03M169659', 'score': 0.13}]
chr3 GH03I170221 170221601 170225000 2.53 [{'connected_gene': 'PRKCI', 'score': 562.12}, {'connected_gene': 'ENSG00000270096', 'score': 29.99}, {'connected_gene': 'MYNN', 'score': 28.9}, {'connected_gene': 'SEC62-AS1', 'score': 25.1}, {'connected_gene': 'PHC3', 'score': 19.86}, {'connected_gene': 'RPL22P1', 'score': 12.17}, {'connected_gene': 'GPR160', 'score': 11.14}, {'connected_gene': 'RPL22L1', 'score': 10.62}, {'connected_gene': 'SLC7A14', 'score': 10.16}, {'connected_gene': 'LRRC34', 'score': 9.77}, {'connected_gene': 'ENSG00000270135', 'score': 9.69}, {'connected_gene': 'LRRIQ4', 'score': 1.58}, {'connected_gene': 'GC03P170245', 'score': 0.34}]
chr3 GH03I170226 170226801 170227000 0.2 [{'connected_gene': 'PRKCI', 'score': 0.77}, {'connected_gene': 'GC03P170245', 'score': 0.37}]
chr3 GH03I170269 170269460 170271465 0.69 [{'connected_gene': 'GPR160', 'score': 18.21}, {'connected_gene': 'ENSG00000200118', 'score': 0.31}, {'connected_gene': 'GC03P170298', 'score': 0.31}, {'connected_gene': 'PRKCI', 'score': 0.25}]
chr3 GH03I170203 170203753 170204751 0.68 [{'connected_gene': 'GPR160', 'score': 15.01}, {'connected_gene': 'RNU7-32P', 'score': 11.41}, {'connected_gene': 'PRKCI', 'score': 0.37}, {'connected_gene': 'PHC3', 'score': 0.34}]
chr3 GH03I169657 169657493 169669842 2.72 [{'connected_gene': 'MECOM', 'score': 553.96}, {'connected_gene': 'MYNN', 'score': 61.47}, {'connected_gene': 'ENSG00000270096', 'score': 46.64}, {'connected_gene': 'PHC3', 'score': 43.5}, {'connected_gene': 'SEC62-AS1', 'score': 41.89}, {'connected_gene': 'PRKCI', 'score': 22.45}, {'connected_gene': 'RPL22P1', 'score': 12.24}, {'connected_gene': 'SLC7A14', 'score': 10.13}, {'connected_gene': 'ACTRT3', 'score': 4.31}, {'connected_gene': 'ENSG00000242795', 'score': 0.28}, {'connected_gene': 'GC03M169659', 'score': 0.07}]
chr3 GH03I169810 169810997 169814537 1.92 [{'connected_gene': 'LRRC34', 'score': 562.27}, {'connected_gene': 'LRRIQ4', 'score': 550.77}, {'connected_gene': 'PRKCI', 'score': 10.2}, {'connected_gene': 'ENSG00000270096', 'score': 0.37}, {'connected_gene': 'GC03M169659', 'score': 0.17}]
chr3 GH03I170232 170232004 170234476 0.89 [{'connected_gene': 'RNU7-32P', 'score': 11.23}, {'connected_gene': 'GC03P170245', 'score': 0.39}, {'connected_gene': 'PRKCI', 'score': 0.39}]
chr3 GH03I170206 170206533 170206662 0.67 [{'connected_gene': 'RNU7-32P', 'score': 11.39}, {'connected_gene': 'GPR160', 'score': 7.53}, {'connected_gene': 'PRKCI', 'score': 0.37}, {'connected_gene': 'PHC3', 'score': 0.34}]
chr3 GH03I169762 169762886 169765951 1.79 [{'connected_gene': 'GC03M169769', 'score': 550.77}, {'connected_gene': 'GC03M169767', 'score': 550.77}, {'connected_gene': 'TERC', 'score': 550.77}, {'connected_gene': 'ENSG00000277925', 'score': 550.77}, {'connected_gene': 'GC03M169768', 'score': 550.77}, {'connected_gene': 'MYNN', 'score': 33.78}, {'connected_gene': 'SEC62-AS1', 'score': 20.39}, {'connected_gene': 'PHC3', 'score': 20.12}, {'connected_gene': 'PRKCI', 'score': 12.76}, {'connected_gene': 'RPL22P1', 'score': 10.06}, {'connected_gene': 'LRRC34', 'score': 7.28}, {'connected_gene': 'PIR60567', 'score': 0.39}, {'connected_gene': 'GC03M169659', 'score': 0.12}]
chr3 GH03I170276 170276542 170278491 0.58 [{'connected_gene': 'GC03P170298', 'score': 0.34}, {'connected_gene': 'ENSG00000200118', 'score': 0.29}, {'connected_gene': 'PRKCI', 'score': 0.22}]
chr3 GH03I170257 170257923 170259395 0.96 [{'connected_gene': 'ENSG00000239628', 'score': 4.64}, {'connected_gene': 'ENSG00000200118', 'score': 0.39}, {'connected_gene': 'GC03P170298', 'score': 0.28}, {'connected_gene': 'PRKCI', 'score': 0.28}]
chr3 GH03I170343 170343667 170345813 1.14 [{'connected_gene': 'ENSG00000239628', 'score': 560.62}, {'connected_gene': 'ENSG00000242578', 'score': 17.25}, {'connected_gene': 'CLDN11', 'score': 10.29}, {'connected_gene': 'GPR160', 'score': 8.43}, {'connected_gene': 'PRKCI', 'score': 7.64}, {'connected_gene': 'GC03P170298', 'score': 0.25}]
chr3 GH03I170159 170159146 170163629 0.6 [{'connected_gene': 'GC03P170161', 'score': 550.77}, {'connected_gene': 'RNU7-32P', 'score': 550.77}, {'connected_gene': 'GPR160', 'score': 33.42}, {'connected_gene': 'PRKCI', 'score': 9.92}, {'connected_gene': 'PHC3', 'score': 0.34}]