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
ENST00000370994 [[67873492, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67889960], [67890570, 67890642], [67890765, 67890906], [67891817, 67891968], [67895670, 67896098]] [[67878889, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67889960], [67890570, 67890642], [67890765, 67890906], [67891817, 67891968], [67895670, 67895983]]
ENST00000370995 [[67876720, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67890005], [67890570, 67890660], [67890765, 67890906], [67891817, 67891968], [67895670, 67896069]] [[67878889, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67890005], [67890570, 67890660], [67890765, 67890906], [67891817, 67891968], [67895670, 67895983]]
ENST00000361219 [[67878067, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67889960], [67890570, 67890660], [67890765, 67890906], [67891817, 67891968], [67895670, 67896082]] [[67878889, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67889960], [67890570, 67890660], [67890765, 67890906], [67891817, 67891968], [67895670, 67895983]]
ENST00000370990 [[67878549, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67890005], [67890570, 67890642], [67890765, 67890906], [67891817, 67891968], [67895670, 67896055]] [[67878889, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67890005], [67890570, 67890642], [67890765, 67890906], [67891817, 67891968], [67895670, 67895983]]
ENST00000490406 [[67889967, 67890005], [67890570, 67890642], [67890765, 67890906], [67891817, 67891968], [67895118, 67895340]] None
ENST00000493607 [[67878898, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67890097]] None
ENST00000462814 [[67880955, 67881022], [67885691, 67886248]] None
ENST00000484880 [[67885447, 67885869], [67889882, 67889960], [67890570, 67890660], [67890765, 67890803]] None
NM_001018067 [[67873492, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67890005], [67890570, 67890660], [67890765, 67890906], [67891817, 67891968], [67895670, 67896123]] [[67878889, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67890005], [67890570, 67890660], [67890765, 67890906], [67891817, 67891968], [67895670, 67895983]]
NM_001018069 [[67873492, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67889960], [67890570, 67890660], [67890765, 67890906], [67891817, 67891968], [67895670, 67896123]] [[67878889, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67889960], [67890570, 67890660], [67890765, 67890906], [67891817, 67891968], [67895670, 67895983]]
NM_001018068 [[67873492, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67890005], [67890570, 67890642], [67890765, 67890906], [67891817, 67891968], [67895670, 67896123]] [[67878889, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67890005], [67890570, 67890642], [67890765, 67890906], [67891817, 67891968], [67895670, 67895983]]
NM_015640 [[67873492, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67889960], [67890570, 67890642], [67890765, 67890906], [67891817, 67891968], [67895670, 67896123]] [[67878889, 67878946], [67880848, 67881022], [67885691, 67885869], [67889882, 67889960], [67890570, 67890642], [67890765, 67890906], [67891817, 67891968], [67895670, 67895983]]
Promoter
Chrom Start End Description
chr1 67896009 67896043 CAGE_peak_3_at_SERBP1_5end
chr1 67896079 67896092 CAGE_peak_1_at_SERBP1_5end
chr1 67896095 67896106 CAGE_peak_2_at_SERBP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I067625 67625643 67635800 1.46 [{'connected_gene': 'MIER1', 'score': 13.81}, {'connected_gene': 'GADD45A', 'score': 11.63}, {'connected_gene': 'SERBP1', 'score': 11.16}, {'connected_gene': 'RNU6-1031P', 'score': 10.09}, {'connected_gene': 'CTBP2P8', 'score': 9.98}, {'connected_gene': 'DIRAS3', 'score': 6.15}, {'connected_gene': 'RN7SL392P', 'score': 0.31}, {'connected_gene': 'LOC105378780', 'score': 0.2}]
chr1 GH01I067338 67338278 67339106 0.72 [{'connected_gene': 'IL12RB2', 'score': 11.65}, {'connected_gene': 'SERBP1', 'score': 10.85}, {'connected_gene': 'RNU6-387P', 'score': 10.74}, {'connected_gene': 'RNU4ATAC4P', 'score': 10.35}, {'connected_gene': 'LOC105378779', 'score': 0.21}]
chr1 GH01I067339 67339451 67341220 0.95 [{'connected_gene': 'IL12RB2', 'score': 18.17}, {'connected_gene': 'SERBP1', 'score': 11.19}, {'connected_gene': 'RNU6-387P', 'score': 10.25}, {'connected_gene': 'LOC105378779', 'score': 0.22}]
chr1 GH01I067306 67306863 67308623 1.6 [{'connected_gene': 'IL12RB2', 'score': 555.69}, {'connected_gene': 'SERBP1', 'score': 5.15}, {'connected_gene': 'LOC105378779', 'score': 0.16}]
chr1 GH01I067407 67407160 67408247 0.49 [{'connected_gene': 'IL12RB2', 'score': 5.95}, {'connected_gene': 'GC01P067418', 'score': 0.44}, {'connected_gene': 'LOC105378779', 'score': 0.44}, {'connected_gene': 'SERBP1', 'score': 0.34}]
chr1 GH01I067427 67427060 67432504 2.29 [{'connected_gene': 'SERBP1', 'score': 558.72}, {'connected_gene': 'MIER1', 'score': 23.7}, {'connected_gene': 'RNU6-387P', 'score': 0.39}]
chr1 GH01I067446 67446533 67447809 0.38 [{'connected_gene': 'SERBP1', 'score': 8.21}, {'connected_gene': 'MIER1', 'score': 4.04}, {'connected_gene': 'PIR38616', 'score': 0.34}]
chr1 GH01I067336 67336483 67337487 0.31 [{'connected_gene': 'SERBP1', 'score': 10.82}, {'connected_gene': 'IL12RB2', 'score': 10.65}, {'connected_gene': 'RNU4ATAC4P', 'score': 10.36}, {'connected_gene': 'LOC105378779', 'score': 0.21}]
chr1 GH01I067355 67355277 67357014 0.77 [{'connected_gene': 'SERBP1', 'score': 7.14}, {'connected_gene': 'IL12RB2', 'score': 7.11}, {'connected_gene': 'LOC105378779', 'score': 0.26}]
chr1 GH01I067392 67392935 67393809 0.59 [{'connected_gene': 'SERBP1', 'score': 12.38}, {'connected_gene': 'RNU6-387P', 'score': 12.15}, {'connected_gene': 'LOC105378779', 'score': 0.44}, {'connected_gene': 'IL12RB2', 'score': 0.17}]
chr1 GH01I067418 67418285 67422419 0.52 [{'connected_gene': 'SERBP1', 'score': 12.63}, {'connected_gene': 'RNU6-387P', 'score': 0.77}]
chr1 GH01I067382 67382090 67382335 0.23 [{'connected_gene': 'SERBP1', 'score': 11.75}, {'connected_gene': 'LOC105378779', 'score': 0.37}, {'connected_gene': 'IL12RB2', 'score': 0.19}]
chr1 GH01I066727 66727168 66731194 0.54 [{'connected_gene': 'TCTEX1D1', 'score': 34.42}, {'connected_gene': 'MIER1', 'score': 13.86}, {'connected_gene': 'SERBP1', 'score': 11.1}, {'connected_gene': 'ENSG00000248458', 'score': 10.39}, {'connected_gene': 'SGIP1', 'score': 10.18}, {'connected_gene': 'GC01M066741', 'score': 0.37}]
chr1 GH01I067681 67681905 67690189 2.35 [{'connected_gene': 'GADD45A', 'score': 550.77}, {'connected_gene': 'MIER1', 'score': 29.36}, {'connected_gene': 'SERBP1', 'score': 10.64}, {'connected_gene': 'WDR78', 'score': 4.41}, {'connected_gene': 'LOC105378781', 'score': 0.2}]
chr1 GH01I067731 67731676 67739750 1.42 [{'connected_gene': 'GADD45A', 'score': 12.12}, {'connected_gene': 'SERBP1', 'score': 11.73}, {'connected_gene': 'RNU6-1031P', 'score': 10.23}, {'connected_gene': 'LOC105378781', 'score': 0.37}, {'connected_gene': 'GNG12', 'score': 0.15}]
chr1 GH01I067712 67712925 67714763 1.27 [{'connected_gene': 'GADD45A', 'score': 12.07}, {'connected_gene': 'SERBP1', 'score': 11.73}, {'connected_gene': 'RNU7-80P', 'score': 11.14}, {'connected_gene': 'LOC105378781', 'score': 0.26}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067440 67440798 67441841 0.7 [{'connected_gene': 'RNU6-387P', 'score': 11.49}, {'connected_gene': 'MIER1', 'score': 9.71}, {'connected_gene': 'SERBP1', 'score': 8.3}, {'connected_gene': 'PIR38616', 'score': 0.31}]
chr1 GH01I067439 67439398 67439527 0.59 [{'connected_gene': 'RNU6-387P', 'score': 11.49}, {'connected_gene': 'SERBP1', 'score': 0.44}, {'connected_gene': 'PIR38616', 'score': 0.29}]
chr1 GH01I067458 67458568 67462140 0.97 [{'connected_gene': 'RNU6-387P', 'score': 10.96}, {'connected_gene': 'RNU4ATAC4P', 'score': 10.35}, {'connected_gene': 'PIR38616', 'score': 0.39}, {'connected_gene': 'SERBP1', 'score': 0.31}]
chr1 GH01I067337 67336319 67336433 0.22 [{'connected_gene': 'RNU4ATAC4P', 'score': 10.36}, {'connected_gene': 'SERBP1', 'score': 10.33}, {'connected_gene': 'IL12RB2', 'score': 3.2}, {'connected_gene': 'MIER1', 'score': 2.67}, {'connected_gene': 'SLC35D1', 'score': 2.0}, {'connected_gene': 'IL23R', 'score': 1.39}, {'connected_gene': 'LOC105378779', 'score': 0.21}]
chr1 GH01I067463 67463158 67465268 0.79 [{'connected_gene': 'RNU4ATAC4P', 'score': 9.73}, {'connected_gene': 'RNU6-586P', 'score': 9.63}, {'connected_gene': 'PIR38616', 'score': 0.44}, {'connected_gene': 'SERBP1', 'score': 0.29}]
chr1 GH01I067399 67399709 67400960 0.85 [{'connected_gene': 'LOC105378779', 'score': 550.77}, {'connected_gene': 'SERBP1', 'score': 13.12}, {'connected_gene': 'RNU4ATAC4P', 'score': 10.43}, {'connected_gene': 'GC01P067418', 'score': 0.37}]
chr1 GH01I068127 68127820 68129613 0.64 [{'connected_gene': 'MIR1262', 'score': 10.71}, {'connected_gene': 'RPE65', 'score': 10.09}, {'connected_gene': 'SERBP1', 'score': 4.42}, {'connected_gene': 'CTBP2P8', 'score': 0.29}, {'connected_gene': 'GC01M068050', 'score': 0.23}, {'connected_gene': 'WLS', 'score': 0.15}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1 GH01I067467 67467937 67469035 0.69 [{'connected_gene': 'PIR38616', 'score': 550.77}, {'connected_gene': 'RNU4ATAC4P', 'score': 9.73}, {'connected_gene': 'RNU6-586P', 'score': 9.6}, {'connected_gene': 'SERBP1', 'score': 0.28}]
chr1 GH01I067412 67412824 67413135 0.51 [{'connected_gene': 'GC01P067418', 'score': 0.77}, {'connected_gene': 'LOC105378779', 'score': 0.39}, {'connected_gene': 'SERBP1', 'score': 0.37}]