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
ENST00000336139 [[123594884, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601693], [123611100, 123611244], [123612256, 123612378]] [[123596704, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601596]]
ENST00000530393 [[123595487, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601693], [123610824, 123610900], [123611124, 123611244], [123612256, 123612363]] [[123596704, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601596]]
ENST00000529691 [[123595487, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601693], [123612256, 123612379]] [[123596704, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601596]]
ENST00000533463 [[123601217, 123601693], [123610824, 123610940], [123611100, 123611244], [123612256, 123612375]] [[123601217, 123601596]]
ENST00000528306 [[123601459, 123601693], [123610824, 123610897], [123611124, 123611244], [123612256, 123612381]] [[123601459, 123601596]]
ENST00000529250 [[123601515, 123601693], [123610824, 123610940], [123611124, 123611244], [123612256, 123612383]] None
ENST00000526252 [[123601565, 123601693], [123610141, 123610251], [123610824, 123610940], [123611100, 123611244], [123612256, 123612322]] [[123601565, 123601596]]
ENST00000530944 [[123601567, 123601631], [123610835, 123611244], [123612256, 123612368]] None
ENST00000525391 [[123609331, 123609618], [123610824, 123610940], [123611124, 123611244], [123612256, 123612373]] None
NM_001301819 [[123594634, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601198, 123601693]] [[123596704, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599863]]
NM_001301779 [[123594634, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601693], [123611100, 123611244], [123612256, 123612391]] [[123596704, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601596]]
NM_003455 [[123594634, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601693], [123610824, 123610900], [123611124, 123611244], [123612256, 123612391]] [[123596704, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601596]]
NM_001301780 [[123594634, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601693], [123612256, 123612391]] [[123596704, 123597699], [123598183, 123598303], [123598840, 123598970], [123599833, 123599922], [123600322, 123600533], [123601194, 123601596]]
Promoter
Chrom Start End Description
chr11 123612319 123612395 CAGE_peak_1_at_ZNF202_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I122841 122841671 122846244 1.24 [{'connected_gene': 'ZNF202', 'score': 17.15}, {'connected_gene': 'JHY', 'score': 15.71}, {'connected_gene': 'CRTAM', 'score': 7.07}, {'connected_gene': 'GC11P122841', 'score': 0.77}]
chr11 GH11I123740 123740154 123743992 2.29 [{'connected_gene': 'ZNF202', 'score': 594.72}, {'connected_gene': 'CLMP', 'score': 12.14}, {'connected_gene': 'OR6X1', 'score': 10.37}, {'connected_gene': 'OR10G7', 'score': 9.76}, {'connected_gene': 'OR6M1', 'score': 8.28}, {'connected_gene': 'OR10G4', 'score': 8.23}, {'connected_gene': 'OR8G2P', 'score': 6.79}, {'connected_gene': 'OR4D5', 'score': 6.56}, {'connected_gene': 'TMEM225', 'score': 5.88}, {'connected_gene': 'OR6T1', 'score': 5.33}, {'connected_gene': 'OR8D4', 'score': 2.95}, {'connected_gene': 'OR10S1', 'score': 1.43}]
chr11 GH11I124642 124642816 124645294 1.35 [{'connected_gene': 'ZNF202', 'score': 33.22}, {'connected_gene': 'MSANTD2', 'score': 28.67}, {'connected_gene': 'TMEM218', 'score': 25.22}, {'connected_gene': 'STT3A', 'score': 20.31}, {'connected_gene': 'ENSG00000254509', 'score': 14.26}, {'connected_gene': 'SPA17', 'score': 12.06}, {'connected_gene': 'OR8A1', 'score': 3.11}, {'connected_gene': 'OR8B4', 'score': 2.92}, {'connected_gene': 'OR8D1', 'score': 2.37}, {'connected_gene': 'OR8G1', 'score': 1.48}, {'connected_gene': 'OR8D2', 'score': 1.32}, {'connected_gene': 'OR8B12', 'score': 1.31}, {'connected_gene': 'OR8B8', 'score': 1.19}, {'connected_gene': 'RNA5SP352', 'score': 0.44}, {'connected_gene': 'SIAE', 'score': 0.23}]
chr11 GH11I123972 123972957 123975207 0.38 [{'connected_gene': 'ZNF202', 'score': 5.67}, {'connected_gene': 'NRGN', 'score': 4.74}, {'connected_gene': 'ROBO4', 'score': 4.51}, {'connected_gene': 'GC11M123977', 'score': 0.77}, {'connected_gene': 'GC11P123969', 'score': 0.77}, {'connected_gene': 'OR6T1', 'score': 0.37}]
chr11 GH11I123773 123773930 123778508 0.79 [{'connected_gene': 'ZNF202', 'score': 22.35}, {'connected_gene': 'OR6X1', 'score': 11.06}, {'connected_gene': 'OR6M1', 'score': 10.96}, {'connected_gene': 'TMEM225', 'score': 10.32}, {'connected_gene': 'OR8D4', 'score': 9.66}, {'connected_gene': 'RNU1-21P', 'score': 0.39}, {'connected_gene': 'LOC105369544', 'score': 0.34}]
chr11 GH11I123745 123745554 123747277 0.71 [{'connected_gene': 'ZNF202', 'score': 45.34}, {'connected_gene': 'OR6X1', 'score': 0.44}]
chr11 GH11I123039 123039597 123040834 0.43 [{'connected_gene': 'ZNF202', 'score': 16.8}, {'connected_gene': 'BSX', 'score': 11.27}, {'connected_gene': 'JHY', 'score': 10.93}, {'connected_gene': 'RPL34P23', 'score': 0.77}, {'connected_gene': 'RPS26P43', 'score': 0.39}]
chr11 GH11I123799 123799061 123802186 0.52 [{'connected_gene': 'ZNF202', 'score': 11.85}, {'connected_gene': 'TMEM225', 'score': 7.89}, {'connected_gene': 'LOC105369544', 'score': 0.77}, {'connected_gene': 'OR6M1', 'score': 0.44}]
chr11 GH11I123234 123234720 123236343 1.12 [{'connected_gene': 'ZNF202', 'score': 46.39}, {'connected_gene': 'ATP5PBP5', 'score': 11.63}, {'connected_gene': 'ENSG00000254710', 'score': 11.5}, {'connected_gene': 'CLMP', 'score': 11.27}, {'connected_gene': 'GC11P123228', 'score': 0.44}, {'connected_gene': 'GC11M123292', 'score': 0.22}]
chr11 GH11I124078 124078376 124081724 1.24 [{'connected_gene': 'VWA5A', 'score': 72.95}, {'connected_gene': 'ZNF202', 'score': 17.53}, {'connected_gene': 'SPA17', 'score': 5.41}, {'connected_gene': 'OR8G2P', 'score': 1.83}, {'connected_gene': 'OR8B12', 'score': 1.47}, {'connected_gene': 'OR8D1', 'score': 1.32}, {'connected_gene': 'OR8A1', 'score': 1.23}, {'connected_gene': 'LOC105369545', 'score': 0.44}, {'connected_gene': 'GC11M124060', 'score': 0.39}]
chr11 GH11I123774 123773193 123773342 0.2 [{'connected_gene': 'OR6M1', 'score': 10.66}, {'connected_gene': 'ZNF202', 'score': 10.35}, {'connected_gene': 'TMEM225', 'score': 10.31}, {'connected_gene': 'OR8D4', 'score': 9.66}, {'connected_gene': 'RNU1-21P', 'score': 0.44}, {'connected_gene': 'LOC105369544', 'score': 0.34}]
chr11 GH11I123786 123786223 123787268 0.31 [{'connected_gene': 'OR6X1', 'score': 10.86}, {'connected_gene': 'OR8D4', 'score': 9.88}, {'connected_gene': 'ZNF202', 'score': 4.87}, {'connected_gene': 'LOC105369544', 'score': 0.39}, {'connected_gene': 'RNU1-21P', 'score': 0.34}]
chr11 GH11I123695 123695138 123695529 0.23 [{'connected_gene': 'OR6X1', 'score': 15.73}, {'connected_gene': 'OR8D4', 'score': 15.11}, {'connected_gene': 'OR10G4', 'score': 13.71}, {'connected_gene': 'OR4D5', 'score': 13.51}, {'connected_gene': 'OR10G7', 'score': 13.18}, {'connected_gene': 'SCN3B', 'score': 11.08}, {'connected_gene': 'ZNF202', 'score': 10.13}, {'connected_gene': 'OR6M1', 'score': 9.37}, {'connected_gene': 'OR6T1', 'score': 6.89}, {'connected_gene': 'OR10G9', 'score': 1.72}, {'connected_gene': 'OR10S1', 'score': 1.53}, {'connected_gene': 'GC11P123730', 'score': 0.28}]
chr11 GH11I124224 124224555 124225645 0.97 [{'connected_gene': 'OR8G2P', 'score': 550.77}, {'connected_gene': 'GC11P124227', 'score': 550.77}, {'connected_gene': 'VWA5A', 'score': 23.29}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ZNF202', 'score': 18.79}, {'connected_gene': 'TMEM218', 'score': 14.66}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'LOC102724410', 'score': 0.77}]
chr11 GH11I123977 123977113 123979145 0.6 [{'connected_gene': 'OR10S1', 'score': 550.77}, {'connected_gene': 'GC11M123977', 'score': 550.77}, {'connected_gene': 'ZNF202', 'score': 5.24}, {'connected_gene': 'OR6T1', 'score': 0.37}]
chr11 GH11I123055 123055673 123066551 2.28 [{'connected_gene': 'PIR56485', 'score': 550.77}, {'connected_gene': 'PIR53037', 'score': 550.77}, {'connected_gene': 'GC11M123095', 'score': 550.77}, {'connected_gene': 'HSPA8', 'score': 550.77}, {'connected_gene': 'SNORD14C', 'score': 550.77}, {'connected_gene': 'LOC101929289', 'score': 550.77}, {'connected_gene': 'GC11M123091', 'score': 550.77}, {'connected_gene': 'ZNF202', 'score': 73.39}, {'connected_gene': 'CLMP', 'score': 12.22}, {'connected_gene': 'SNORD14E', 'score': 0.77}, {'connected_gene': 'GC11M123094', 'score': 0.77}, {'connected_gene': 'GC11M123093', 'score': 0.77}, {'connected_gene': 'SNORD14D', 'score': 0.77}]