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
ENST00000494689 [[233086350, 233086490], [233092092, 233092189], [233105654, 233105864], [233113908, 233114228]] None
ENST00000490807 [[233086359, 233086490], [233091302, 233091465], [233092092, 233092189], [233113908, 233114497]] None
ENST00000366628 [[233086369, 233086490], [233091302, 233091465], [233092092, 233092189], [233105654, 233105864], [233113908, 233119628]] [[233086456, 233086490], [233091302, 233091465], [233092092, 233092189], [233105654, 233105864], [233113908, 233113977]]
ENST00000496662 [[233086378, 233086490], [233105654, 233105864], [233113908, 233114468]] None
ENST00000366627 [[233086385, 233086490], [233091302, 233091465], [233092092, 233092189], [233105654, 233105864], [233112087, 233113274]] [[233086456, 233086490], [233091302, 233091465], [233092092, 233092189], [233105654, 233105864], [233112087, 233112270]]
ENST00000479125 [[233086587, 233086878], [233091302, 233091465], [233092092, 233092189], [233105654, 233105864]] None
ENST00000487953 [[233091403, 233091465], [233092092, 233092189], [233105654, 233105864], [233112047, 233112205]] None
ENST00000490098 [[233097648, 233105864], [233113908, 233114397]] None
NR_138025 [[233086276, 233086490], [233105654, 233105864], [233113908, 233114548]] None
NR_138028 [[233086276, 233086490], [233092092, 233092189], [233113908, 233114548]] None
NR_138026 [[233086276, 233086490], [233092092, 233092189], [233105654, 233105864], [233113908, 233114548]] None
NR_138024 [[233086276, 233086490], [233092092, 233092193], [233105654, 233105864], [233113908, 233114548]] None
NM_001329453 [[233086276, 233086490], [233091302, 233091465], [233092092, 233092189], [233113908, 233114548]] [[233086456, 233086490], [233091302, 233091465], [233092092, 233092189], [233113908, 233113977]]
NM_032324 [[233086276, 233086490], [233091302, 233091465], [233092092, 233092189], [233105654, 233105864], [233113908, 233114548]] [[233086456, 233086490], [233091302, 233091465], [233092092, 233092189], [233105654, 233105864], [233113908, 233113977]]
NM_001329452 [[233086276, 233086490], [233091302, 233091465], [233092092, 233092193], [233113908, 233114548]] [[233086456, 233086490], [233091302, 233091465], [233092092, 233092193], [233113908, 233114174]]
NR_138027 [[233086587, 233086878], [233091302, 233091465], [233092092, 233092189], [233105654, 233105864], [233113908, 233114548]] None
Promoter
Chrom Start End Description
chr1 233086304 233086325 CAGE_peak_2_at_NTPCR_5end
chr1 233086326 233086415 CAGE_peak_1_at_NTPCR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I232989 232989382 232992539 0.49 [{'connected_gene': 'NTPCR', 'score': 25.82}, {'connected_gene': 'GC01M232977', 'score': 0.44}, {'connected_gene': 'GC01P233014', 'score': 0.34}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I233081 233081364 233082526 0.4 [{'connected_gene': 'NTPCR', 'score': 6.56}, {'connected_gene': 'PIR48572', 'score': 0.77}, {'connected_gene': 'GC01P233014', 'score': 0.2}, {'connected_gene': 'PCNX2', 'score': 0.08}]
chr1 GH01I232988 232988144 232989090 0.56 [{'connected_gene': 'NTPCR', 'score': 26.05}, {'connected_gene': 'GC01M232977', 'score': 0.44}, {'connected_gene': 'GC01P233014', 'score': 0.31}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I233097 233097464 233099137 0.66 [{'connected_gene': 'NTPCR', 'score': 4.8}, {'connected_gene': 'PIR48572', 'score': 0.39}, {'connected_gene': 'GC01P233278', 'score': 0.1}, {'connected_gene': 'PCNX2', 'score': 0.08}]
chr1 GH01I232511 232511315 232511464 0.89 [{'connected_gene': 'NTPCR', 'score': 9.96}, {'connected_gene': 'PIR51388', 'score': 0.15}, {'connected_gene': 'GC01P232625', 'score': 0.14}, {'connected_gene': 'SIPA1L2', 'score': 0.13}]
chr1 GH01I232578 232578002 232580599 1.03 [{'connected_gene': 'NTPCR', 'score': 5.01}, {'connected_gene': 'GC01P232625', 'score': 0.25}, {'connected_gene': 'SIPA1L2', 'score': 0.23}, {'connected_gene': 'PIR51388', 'score': 0.1}]
chr1 GH01I232915 232915484 232916628 0.2 [{'connected_gene': 'NTPCR', 'score': 17.6}, {'connected_gene': 'MAP10', 'score': 10.46}, {'connected_gene': 'RNU6-1211P', 'score': 9.4}, {'connected_gene': 'LOC105373201', 'score': 0.44}]
chr1 GH01I232952 232952393 232953704 0.86 [{'connected_gene': 'NTPCR', 'score': 41.92}, {'connected_gene': 'MAP10', 'score': 9.83}, {'connected_gene': 'GC01M232948', 'score': 0.77}, {'connected_gene': 'GC01M232977', 'score': 0.31}]
chr1 GH01I232962 232962525 232963808 0.78 [{'connected_gene': 'NTPCR', 'score': 42.55}, {'connected_gene': 'MAP10', 'score': 10.09}, {'connected_gene': 'GC01M232948', 'score': 0.39}, {'connected_gene': 'GC01M232977', 'score': 0.37}]
chr1 GH01I232966 232966174 232967331 0.31 [{'connected_gene': 'NTPCR', 'score': 13.48}, {'connected_gene': 'MAP10', 'score': 10.07}, {'connected_gene': 'GC01M232977', 'score': 0.39}, {'connected_gene': 'GC01M232948', 'score': 0.37}]
chr1 GH01I232949 232949693 232951776 2.2 [{'connected_gene': 'NTPCR', 'score': 598.48}, {'connected_gene': 'GC01M232948', 'score': 550.77}, {'connected_gene': 'RPS7P3', 'score': 11.24}, {'connected_gene': 'MAP10', 'score': 9.83}, {'connected_gene': 'GC01M232977', 'score': 0.29}]
chr1 GH01I232853 232853835 232855149 0.85 [{'connected_gene': 'NTPCR', 'score': 24.16}, {'connected_gene': 'RNU1-74P', 'score': 11.66}, {'connected_gene': 'MAP10', 'score': 10.92}, {'connected_gene': 'RNU6-1211P', 'score': 10.06}, {'connected_gene': 'GC01M232833', 'score': 0.34}, {'connected_gene': 'LOC101927711', 'score': 0.28}, {'connected_gene': 'PIR56010', 'score': 0.25}]
chr1 GH01I232890 232890386 232891801 0.51 [{'connected_gene': 'NTPCR', 'score': 15.7}, {'connected_gene': 'RNU1-74P', 'score': 10.69}, {'connected_gene': 'MAP10', 'score': 10.41}, {'connected_gene': 'PIR56010', 'score': 0.39}, {'connected_gene': 'GC01M232833', 'score': 0.22}, {'connected_gene': 'LOC101927711', 'score': 0.18}]
chr1 GH01I232894 232894425 232895140 0.31 [{'connected_gene': 'NTPCR', 'score': 11.31}, {'connected_gene': 'RNU1-74P', 'score': 10.67}, {'connected_gene': 'PIR56010', 'score': 0.44}, {'connected_gene': 'GC01M232833', 'score': 0.21}, {'connected_gene': 'LOC101927711', 'score': 0.18}]
chr1 GH01I232896 232896798 232897516 0.31 [{'connected_gene': 'NTPCR', 'score': 15.99}, {'connected_gene': 'RNU1-74P', 'score': 10.67}, {'connected_gene': 'PIR56010', 'score': 0.44}, {'connected_gene': 'GC01M232833', 'score': 0.21}, {'connected_gene': 'LOC101927711', 'score': 0.18}]
chr1 GH01I232895 232895863 232896671 0.2 [{'connected_gene': 'NTPCR', 'score': 11.32}, {'connected_gene': 'RNU1-74P', 'score': 10.67}, {'connected_gene': 'PIR56010', 'score': 0.44}, {'connected_gene': 'GC01M232833', 'score': 0.21}, {'connected_gene': 'LOC101927711', 'score': 0.18}]
chr1 GH01I232899 232899283 232900446 0.43 [{'connected_gene': 'NTPCR', 'score': 7.01}, {'connected_gene': 'PIR56010', 'score': 0.77}, {'connected_gene': 'RNU1-74P', 'score': 0.2}, {'connected_gene': 'GC01M232833', 'score': 0.2}, {'connected_gene': 'LOC101927711', 'score': 0.18}]
chr1 GH01I233019 233019430 233020856 0.51 [{'connected_gene': 'NTPCR', 'score': 20.87}, {'connected_gene': 'RNU6-1211P', 'score': 9.44}, {'connected_gene': 'GC01P233014', 'score': 0.44}, {'connected_gene': 'PIR48572', 'score': 0.2}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I233006 233006430 233006619 0.2 [{'connected_gene': 'NTPCR', 'score': 15.55}, {'connected_gene': 'RNU6-1211P', 'score': 9.7}, {'connected_gene': 'GC01P233014', 'score': 0.44}, {'connected_gene': 'GC01M232977', 'score': 0.31}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I232968 232968144 232970196 0.46 [{'connected_gene': 'NTPCR', 'score': 42.34}, {'connected_gene': 'RNU6-1211P', 'score': 10.27}, {'connected_gene': 'MAP10', 'score': 10.07}, {'connected_gene': 'GC01M232977', 'score': 0.39}, {'connected_gene': 'GC01M232948', 'score': 0.37}]
chr1 GH01I232937 232937734 232938400 0.97 [{'connected_gene': 'NTPCR', 'score': 45.83}, {'connected_gene': 'RNU6-1211P', 'score': 9.35}, {'connected_gene': 'LOC105373201', 'score': 0.31}]
chr1 GH01I232939 232939555 232940234 0.46 [{'connected_gene': 'NTPCR', 'score': 46.32}, {'connected_gene': 'RNU6-1211P', 'score': 9.35}, {'connected_gene': 'LOC105373201', 'score': 0.31}]
chr1 GH01I232977 232977762 232979079 0.74 [{'connected_gene': 'NTPCR', 'score': 47.06}, {'connected_gene': 'RNU6-1211P', 'score': 9.97}, {'connected_gene': 'GC01M232977', 'score': 0.77}, {'connected_gene': 'GC01M232948', 'score': 0.31}]
chr1 GH01I232903 232903347 232907372 0.72 [{'connected_gene': 'NTPCR', 'score': 5.69}, {'connected_gene': 'PIR56010', 'score': 0.77}, {'connected_gene': 'LOC105373201', 'score': 0.44}, {'connected_gene': 'LOC101927711', 'score': 0.17}]
chr1 GH01I232934 232934918 232935795 0.68 [{'connected_gene': 'NTPCR', 'score': 44.47}, {'connected_gene': 'LOC105373201', 'score': 0.34}]
chr1 GH01I232924 232924959 232926557 0.4 [{'connected_gene': 'NTPCR', 'score': 45.8}, {'connected_gene': 'LOC105373201', 'score': 0.37}]
chr1 GH01I232947 232947121 232947818 0.43 [{'connected_gene': 'NTPCR', 'score': 0.77}, {'connected_gene': 'LOC105373201', 'score': 0.28}]
chr1 GH01I232923 232923728 232924699 0.92 [{'connected_gene': 'NTPCR', 'score': 45.78}, {'connected_gene': 'LOC105373201', 'score': 0.39}]
chr1 GH01I232943 232943995 232944144 0.74 [{'connected_gene': 'NTPCR', 'score': 0.44}, {'connected_gene': 'LOC105373201', 'score': 0.29}]
chr1 GH01I232927 232927440 232928632 0.2 [{'connected_gene': 'NTPCR', 'score': 45.79}, {'connected_gene': 'LOC105373201', 'score': 0.37}]
chr1 GH01I232335 232335302 232336385 0.58 [{'connected_gene': 'NTPCR', 'score': 6.15}, {'connected_gene': 'LOC105373196', 'score': 0.31}, {'connected_gene': 'RN7SL299P', 'score': 0.14}]
chr1 GH01I233288 233288473 233296344 2.16 [{'connected_gene': 'PCNX2', 'score': 560.63}, {'connected_gene': 'MAP3K21', 'score': 12.54}, {'connected_gene': 'NTPCR', 'score': 9.88}, {'connected_gene': 'RPS7P3', 'score': 6.47}, {'connected_gene': 'ENSG00000251508', 'score': 0.77}]
chr1 GH01I232888 232888598 232889737 0.2 [{'connected_gene': 'MAP10', 'score': 10.68}, {'connected_gene': 'RNU6-1211P', 'score': 9.89}, {'connected_gene': 'NTPCR', 'score': 6.86}, {'connected_gene': 'PIR56010', 'score': 0.39}, {'connected_gene': 'RNU1-74P', 'score': 0.22}, {'connected_gene': 'GC01M232833', 'score': 0.22}, {'connected_gene': 'LOC101927711', 'score': 0.19}]
chr1 GH01I232612 232612947 232615400 1.05 [{'connected_gene': 'RPS7P3', 'score': 13.63}, {'connected_gene': 'NTPCR', 'score': 9.97}, {'connected_gene': 'GC01P232625', 'score': 0.39}, {'connected_gene': 'SIPA1L2', 'score': 0.37}, {'connected_gene': 'PIR51388', 'score': 0.08}]
chr1 GH01I232868 232868535 232869744 0.97 [{'connected_gene': 'RPS7P3', 'score': 23.25}, {'connected_gene': 'NTPCR', 'score': 18.26}, {'connected_gene': 'PIR56010', 'score': 0.29}, {'connected_gene': 'RNU1-74P', 'score': 0.28}, {'connected_gene': 'GC01M232833', 'score': 0.28}, {'connected_gene': 'LOC101927711', 'score': 0.23}]
chr1 GH01I233635 233635291 233636916 1.1 [{'connected_gene': 'RPS7P3', 'score': 60.21}, {'connected_gene': 'IRF2BP2', 'score': 42.87}, {'connected_gene': 'KCNK1', 'score': 18.9}, {'connected_gene': 'LOC101927765', 'score': 11.07}, {'connected_gene': 'NTPCR', 'score': 9.85}, {'connected_gene': 'MIR4427', 'score': 0.39}, {'connected_gene': 'GC01P233696', 'score': 0.22}]
chr1 GH01I233904 233904095 233906334 1.85 [{'connected_gene': 'SLC35F3', 'score': 550.77}, {'connected_gene': 'PIR54761', 'score': 550.77}, {'connected_gene': 'NTPCR', 'score': 9.94}, {'connected_gene': 'RPS7P3', 'score': 9.87}, {'connected_gene': 'GC01P233935', 'score': 0.29}, {'connected_gene': 'GC01M233807', 'score': 0.28}]
chr1 GH01I232908 232908611 232909643 0.43 [{'connected_gene': 'LOC105373201', 'score': 550.77}, {'connected_gene': 'NTPCR', 'score': 11.99}, {'connected_gene': 'MAP10', 'score': 10.47}, {'connected_gene': 'RNU6-1211P', 'score': 9.4}, {'connected_gene': 'PIR56010', 'score': 0.44}]
chr1 GH01I232910 232910122 232910951 0.2 [{'connected_gene': 'LOC105373201', 'score': 550.77}, {'connected_gene': 'NTPCR', 'score': 12.01}, {'connected_gene': 'MAP10', 'score': 10.46}, {'connected_gene': 'RNU6-1211P', 'score': 9.39}]
chr1 GH01I232917 232917042 232917966 0.31 [{'connected_gene': 'LOC105373201', 'score': 0.44}, {'connected_gene': 'NTPCR', 'score': 0.29}]
chr1 GH01I232919 232919913 232920457 0.2 [{'connected_gene': 'LOC105373201', 'score': 0.44}, {'connected_gene': 'NTPCR', 'score': 0.29}]
chr1 GH01I232900 232900634 232902130 0.38 [{'connected_gene': 'PIR56010', 'score': 550.77}, {'connected_gene': 'NTPCR', 'score': 7.07}, {'connected_gene': 'RNU1-74P', 'score': 0.2}, {'connected_gene': 'GC01M232833', 'score': 0.2}, {'connected_gene': 'LOC101927711', 'score': 0.17}]
chr1 GH01I232902 232902384 232903243 0.43 [{'connected_gene': 'PIR56010', 'score': 550.77}, {'connected_gene': 'NTPCR', 'score': 6.55}, {'connected_gene': 'LOC105373201', 'score': 0.44}, {'connected_gene': 'LOC101927711', 'score': 0.17}]