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
ENST00000533208 [[44087474, 44087562], [44089177, 44089328], [44092805, 44092865], [44094996, 44095067], [44096161, 44096231], [44097075, 44097142], [44098872, 44099249]] None
ENST00000524990 [[44087728, 44087872], [44089177, 44089465], [44092805, 44092865], [44094996, 44095067]] [[44089177, 44089465], [44092805, 44092865], [44094996, 44095067]]
ENST00000263776 [[44087817, 44088251], [44089177, 44089465], [44092805, 44092865], [44094996, 44095067], [44096161, 44096231], [44097075, 44097142], [44098828, 44098926], [44099394, 44099472], [44100233, 44100334], [44101080, 44101170], [44102569, 44102615], [44102728, 44102870], [44104718, 44104861], [44104973, 44105127], [44105244, 44105764]] [[44089177, 44089465], [44092805, 44092865], [44094996, 44095067], [44096161, 44096231], [44097075, 44097142], [44098828, 44098926], [44099394, 44099472], [44100233, 44100334], [44101080, 44101170], [44102569, 44102615], [44102728, 44102870], [44104718, 44104861], [44104973, 44105127], [44105244, 44105342]]
ENST00000432284 [[44087874, 44088251], [44089177, 44089465], [44092805, 44092865], [44096161, 44096231], [44097075, 44097142], [44098828, 44098953]] [[44089177, 44089465], [44092805, 44092865], [44096161, 44096231], [44097075, 44097134]]
ENST00000527603 [[44088073, 44088251], [44089177, 44089324], [44092805, 44092865], [44094893, 44095067], [44096161, 44096231], [44097075, 44097406]] None
ENST00000526577 [[44088085, 44088251], [44089177, 44089465], [44092805, 44092865], [44094996, 44095085], [44096161, 44096231], [44097075, 44097142], [44098828, 44098995]] None
ENST00000533404 [[44088678, 44088846], [44089177, 44089409]] [[44089177, 44089409]]
ENST00000531940 [[44096179, 44096231], [44097075, 44097142], [44098828, 44098926], [44099394, 44100334], [44101080, 44101157]] None
ENST00000527346 [[44097080, 44097142], [44098872, 44101170], [44102569, 44102615], [44102728, 44102870], [44104718, 44104861], [44104973, 44105127], [44105244, 44105772]] None
ENST00000532122 [[44100887, 44101170], [44102569, 44102615], [44102728, 44102870], [44103614, 44103670]] None
ENST00000531190 [[44100887, 44101170], [44102569, 44102615], [44102728, 44102870], [44103614, 44103742], [44104718, 44104758]] None
ENST00000527557 [[44101078, 44101170], [44102569, 44102615], [44102728, 44102870], [44103614, 44103731]] None
ENST00000531505 [[44102059, 44102870], [44104718, 44104820]] None
ENST00000534035 [[44102567, 44102615], [44102728, 44102870], [44104718, 44104861], [44105244, 44105443]] None
NM_001127219 [[44087728, 44087872], [44089177, 44089465], [44092805, 44092865], [44094996, 44095067], [44096161, 44096231], [44097075, 44097142], [44098828, 44098926], [44099394, 44099472], [44100233, 44100334], [44101080, 44101170], [44102569, 44102615], [44102728, 44102870], [44104718, 44104861], [44104973, 44105127], [44105244, 44105569]] [[44089177, 44089465], [44092805, 44092865], [44094996, 44095067], [44096161, 44096231], [44097075, 44097142], [44098828, 44098926], [44099394, 44099472], [44100233, 44100334], [44101080, 44101170], [44102569, 44102615], [44102728, 44102870], [44104718, 44104861], [44104973, 44105127], [44105244, 44105342]]
NM_032592 [[44087811, 44088251], [44089177, 44089465], [44092805, 44092865], [44094996, 44095067], [44096161, 44096231], [44097075, 44097142], [44098828, 44098926], [44099394, 44099472], [44100233, 44100334], [44101080, 44101170], [44102569, 44102615], [44102728, 44102870], [44104718, 44104861], [44104973, 44105127], [44105244, 44105569]] [[44089177, 44089465], [44092805, 44092865], [44094996, 44095067], [44096161, 44096231], [44097075, 44097142], [44098828, 44098926], [44099394, 44099472], [44100233, 44100334], [44101080, 44101170], [44102569, 44102615], [44102728, 44102870], [44104718, 44104861], [44104973, 44105127], [44105244, 44105342]]
Promoter
Chrom Start End Description
chr11 44087803 44087827 CAGE_peak_3_at_ACCS_5end
chr11 44087842 44087859 CAGE_peak_5_at_ACCS_5end
chr11 44087862 44087904 CAGE_peak_2_at_ACCS_5end
chr11 44088002 44088026 CAGE_peak_4_at_ACCS_5end
chr11 44088027 44088086 CAGE_peak_1_at_ACCS_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I044065 44065295 44067520 2.03 [{'connected_gene': 'ACCS', 'score': 625.6}, {'connected_gene': 'EXT2', 'score': 21.13}, {'connected_gene': 'SEC14L1P1', 'score': 11.64}, {'connected_gene': 'ALKBH3', 'score': 10.54}, {'connected_gene': 'TTC17', 'score': 10.27}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.01}, {'connected_gene': 'C11orf96', 'score': 10.01}, {'connected_gene': 'ENSG00000255165', 'score': 0.44}, {'connected_gene': 'GC11P043987', 'score': 0.18}]
chr11 GH11I044029 44029147 44033906 0.92 [{'connected_gene': 'ACCS', 'score': 23.0}, {'connected_gene': 'ENSG00000255165', 'score': 11.01}, {'connected_gene': 'ENSG00000244953', 'score': 6.19}, {'connected_gene': 'EXT2', 'score': 4.89}, {'connected_gene': 'GC11P043987', 'score': 0.26}, {'connected_gene': 'ACCSL', 'score': 0.14}]
chr11 GH11I044112 44112571 44112720 0.56 [{'connected_gene': 'ACCS', 'score': 33.68}, {'connected_gene': 'ENSG00000255165', 'score': 11.02}, {'connected_gene': 'EXT2', 'score': 0.37}, {'connected_gene': 'GC11P043987', 'score': 0.13}, {'connected_gene': 'GC11P044248', 'score': 0.12}]
chr11 GH11I044228 44228589 44230386 0.2 [{'connected_gene': 'ACCS', 'score': 11.48}, {'connected_gene': 'EXT2', 'score': 9.47}, {'connected_gene': 'GC11P044248', 'score': 0.37}]
chr11 GH11I043357 43357913 43360918 2.06 [{'connected_gene': 'TTC17', 'score': 564.54}, {'connected_gene': 'ENSG00000254907', 'score': 550.77}, {'connected_gene': 'SEC14L1P1', 'score': 11.57}, {'connected_gene': 'ALKBH3', 'score': 10.48}, {'connected_gene': 'ACCS', 'score': 10.11}, {'connected_gene': 'EXT2', 'score': 9.98}, {'connected_gene': 'API5', 'score': 6.46}, {'connected_gene': 'ENSG00000255340', 'score': 0.31}]
chr11 GH11I043941 43941116 43946058 2.13 [{'connected_gene': 'C11orf96', 'score': 550.37}, {'connected_gene': 'SEC14L1P1', 'score': 17.47}, {'connected_gene': 'ALKBH3', 'score': 14.45}, {'connected_gene': 'EXT2', 'score': 14.41}, {'connected_gene': 'ENSG00000254907', 'score': 14.19}, {'connected_gene': 'TTC17', 'score': 13.93}, {'connected_gene': 'ACCS', 'score': 13.88}, {'connected_gene': 'ALKBH3-AS1', 'score': 11.8}, {'connected_gene': 'ENSG00000254409', 'score': 11.8}, {'connected_gene': 'LOC105376644', 'score': 10.33}, {'connected_gene': 'ENSG00000244953', 'score': 6.29}, {'connected_gene': 'ACCSL', 'score': 0.34}]
chr11 GH11I044036 44036979 44037333 0.57 [{'connected_gene': 'C11orf96', 'score': 10.93}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.92}, {'connected_gene': 'ACCS', 'score': 0.31}, {'connected_gene': 'GC11P043987', 'score': 0.25}, {'connected_gene': 'ACCSL', 'score': 0.13}]
chr11 GH11I044037 44037411 44037620 0.85 [{'connected_gene': 'C11orf96', 'score': 10.93}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.92}, {'connected_gene': 'ACCS', 'score': 0.31}, {'connected_gene': 'GC11P043987', 'score': 0.23}, {'connected_gene': 'ACCSL', 'score': 0.13}]
chr11 GH11I044034 44034524 44035834 0.2 [{'connected_gene': 'C11orf96', 'score': 10.94}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.93}, {'connected_gene': 'EXT2', 'score': 4.74}, {'connected_gene': 'ACCS', 'score': 0.29}, {'connected_gene': 'GC11P043987', 'score': 0.25}, {'connected_gene': 'ACCSL', 'score': 0.14}]
chr11 GH11I044268 44268377 44272214 1.55 [{'connected_gene': 'EXT2', 'score': 5.7}, {'connected_gene': 'ACCS', 'score': 4.65}, {'connected_gene': 'GC11M044275', 'score': 0.44}, {'connected_gene': 'GC11P044248', 'score': 0.34}, {'connected_gene': 'ALX4', 'score': 0.25}]
chr11 GH11I044095 44095051 44097178 1.91 [{'connected_gene': 'EXT2', 'score': 563.08}, {'connected_gene': 'ACCS', 'score': 29.41}, {'connected_gene': 'GC11P043987', 'score': 0.14}, {'connected_gene': 'GC11P044248', 'score': 0.1}]
chr11 GH11I044094 44094201 44094601 0.88 [{'connected_gene': 'EXT2', 'score': 555.34}, {'connected_gene': 'ACCS', 'score': 18.5}, {'connected_gene': 'GC11P044088', 'score': 0.44}, {'connected_gene': 'GC11P043987', 'score': 0.14}]
chr11 GH11I044144 44144031 44144200 0.66 [{'connected_gene': 'EXT2', 'score': 11.11}, {'connected_gene': 'ENSG00000255165', 'score': 10.94}, {'connected_gene': 'ACCS', 'score': 10.93}, {'connected_gene': 'GC11P044248', 'score': 0.15}]
chr11 GH11I044007 44007125 44007983 0.43 [{'connected_gene': 'ALKBH3-AS1', 'score': 10.81}, {'connected_gene': 'ENSG00000254409', 'score': 10.81}, {'connected_gene': 'ENSG00000244953', 'score': 4.94}, {'connected_gene': 'GC11P043987', 'score': 0.34}, {'connected_gene': 'ACCS', 'score': 0.22}, {'connected_gene': 'ACCSL', 'score': 0.17}]
chr11 GH11I043992 43992282 43993839 0.86 [{'connected_gene': 'ALKBH3-AS1', 'score': 11.46}, {'connected_gene': 'ENSG00000254409', 'score': 11.46}, {'connected_gene': 'GC11P043987', 'score': 0.44}, {'connected_gene': 'ACCS', 'score': 0.19}, {'connected_gene': 'ACCSL', 'score': 0.19}]
chr11 GH11I044013 44013732 44015895 0.43 [{'connected_gene': 'ALKBH3-AS1', 'score': 10.8}, {'connected_gene': 'ENSG00000254409', 'score': 10.8}, {'connected_gene': 'ACCS', 'score': 7.64}, {'connected_gene': 'EXT2', 'score': 5.3}, {'connected_gene': 'GC11P043987', 'score': 0.31}, {'connected_gene': 'ACCSL', 'score': 0.16}]
chr11 GH11I044018 44018035 44018541 0.31 [{'connected_gene': 'ENSG00000244953', 'score': 6.54}, {'connected_gene': 'GC11P043987', 'score': 0.29}, {'connected_gene': 'ACCS', 'score': 0.25}, {'connected_gene': 'ACCSL', 'score': 0.15}]
chr11 GH11I044006 44006158 44006435 0.2 [{'connected_gene': 'GC11P043987', 'score': 0.37}, {'connected_gene': 'ACCS', 'score': 0.22}, {'connected_gene': 'ACCSL', 'score': 0.17}]
chr11 GH11I044016 44016231 44016380 0.4 [{'connected_gene': 'GC11P043987', 'score': 0.31}, {'connected_gene': 'ACCS', 'score': 0.25}, {'connected_gene': 'ACCSL', 'score': 0.15}]
chr11 GH11I044005 44005311 44005460 0.63 [{'connected_gene': 'GC11P043987', 'score': 0.37}, {'connected_gene': 'ACCS', 'score': 0.21}, {'connected_gene': 'ACCSL', 'score': 0.18}]
chr11 GH11I044110 44110311 44110480 0.66 [{'connected_gene': 'ENSG00000255165', 'score': 11.44}, {'connected_gene': 'ACCS', 'score': 11.43}, {'connected_gene': 'EXT2', 'score': 0.39}, {'connected_gene': 'GC11P043987', 'score': 0.13}, {'connected_gene': 'GC11P044248', 'score': 0.12}]
chr11 GH11I044101 44101942 44101960 0.34 [{'connected_gene': 'ENSG00000255165', 'score': 11.13}, {'connected_gene': 'ACCS', 'score': 11.11}, {'connected_gene': 'EXT2', 'score': 0.44}, {'connected_gene': 'GC11P043987', 'score': 0.14}, {'connected_gene': 'GC11P044248', 'score': 0.11}]
chr11 GH11I044245 44245935 44247765 0.2 [{'connected_gene': 'GC11P044248', 'score': 550.77}, {'connected_gene': 'ACCS', 'score': 25.36}, {'connected_gene': 'EXT2', 'score': 5.19}]
chr11 GH11I043986 43986627 43990775 1.16 [{'connected_gene': 'GC11P043987', 'score': 550.77}, {'connected_gene': 'ENSG00000244953', 'score': 5.24}, {'connected_gene': 'ACCSL', 'score': 0.2}, {'connected_gene': 'ENSG00000254409', 'score': 0.2}, {'connected_gene': 'ACCS', 'score': 0.18}]
chr11 GH11I044010 44010845 44011088 0.45 [{'connected_gene': 'ENSG00000254409', 'score': 10.81}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.8}, {'connected_gene': 'C11orf96', 'score': 1.47}, {'connected_gene': 'GC11P043987', 'score': 0.34}, {'connected_gene': 'ACCS', 'score': 0.23}, {'connected_gene': 'ACCSL', 'score': 0.17}]