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
ENST00000434316 [[114145309, 114145588], [114149816, 114150340], [114152656, 114152836], [114154272, 114154464], [114156066, 114156195], [114157810, 114157903], [114164552, 114164739], [114174930, 114175048], [114188359, 114188555], [114193671, 114193822], [114201614, 114201694], [114202617, 114202767], [114203739, 114204510]] [[114149896, 114150340], [114152656, 114152836], [114154272, 114154464], [114156066, 114156195], [114157810, 114157903], [114164552, 114164739], [114174930, 114175048], [114188359, 114188555], [114193671, 114193822], [114201614, 114201694], [114202617, 114202767], [114203739, 114203853]]
ENST00000375391 [[114145357, 114145588], [114149816, 114150340], [114152656, 114152836], [114154272, 114154464], [114156066, 114156195], [114157810, 114157903], [114164552, 114164739], [114203948, 114204542]] [[114149896, 114150340], [114152656, 114152836], [114154272, 114154464], [114156066, 114156195], [114157810, 114157903], [114164552, 114164739], [114203948, 114203968]]
ENST00000474393 [[114145410, 114145588], [114149816, 114150340], [114152656, 114152836], [114154272, 114154464], [114156066, 114156195], [114157810, 114157903], [114164552, 114164739], [114174930, 114175048], [114188359, 114188667]] None
ENST00000462877 [[114154335, 114154464], [114156066, 114156195], [114164552, 114164739], [114174930, 114174976]] None
ENST00000473287 [[114150185, 114150340], [114152656, 114152960]] None
ENST00000465556 [[114174860, 114175048], [114193671, 114193797]] None
ENST00000460039 [[114200069, 114200212], [114201614, 114201694], [114202617, 114202767], [114203739, 114204230]] None
ENST00000491166 [[114201463, 114201694], [114202617, 114202767], [114203739, 114203953]] None
NM_017905 [[114145307, 114145588], [114149816, 114150340], [114152656, 114152836], [114154272, 114154464], [114156066, 114156195], [114157810, 114157903], [114164552, 114164739], [114174930, 114175048], [114188359, 114188555], [114193671, 114193822], [114201614, 114201694], [114202617, 114202767], [114203739, 114204544]] [[114149896, 114150340], [114152656, 114152836], [114154272, 114154464], [114156066, 114156195], [114157810, 114157903], [114164552, 114164739], [114174930, 114175048], [114188359, 114188555], [114193671, 114193822], [114201614, 114201694], [114202617, 114202767], [114203739, 114203853]]
Promoter
Chrom Start End Description
chr13 114145160 114145184 CAGE_peak_2_at_TMCO3_5end
chr13 114145329 114145436 CAGE_peak_1_at_TMCO3_5end
chr13 114145441 114145461 CAGE_peak_3_at_TMCO3_5end
chr13 114145517 114145522 CAGE_peak_12_at_TMCO3_5end
chr13 114200059 114200064 CAGE_peak_14_at_TMCO3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113553 113553186 113553335 0.31 [{'connected_gene': 'GRTP1', 'score': 14.84}, {'connected_gene': 'DCUN1D2', 'score': 11.02}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.66}, {'connected_gene': 'GRTP1-AS1', 'score': 10.03}, {'connected_gene': 'ENSG00000276248', 'score': 0.31}, {'connected_gene': 'TFDP1', 'score': 0.29}, {'connected_gene': 'TMCO3', 'score': 0.21}]
chr13 GH13I113458 113458346 113458555 0.59 [{'connected_gene': 'GRTP1', 'score': 10.47}, {'connected_gene': 'GRTP1-AS1', 'score': 10.33}, {'connected_gene': 'TMCO3', 'score': 10.22}, {'connected_gene': 'DCUN1D2', 'score': 10.22}, {'connected_gene': 'ADPRHL1', 'score': 0.77}, {'connected_gene': 'DCUN1D2-AS', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.21}]
chr13 GH13I113583 113583800 113586295 1.95 [{'connected_gene': 'TFDP1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 19.17}, {'connected_gene': 'TUBGCP3', 'score': 18.63}, {'connected_gene': 'GRK1', 'score': 13.92}, {'connected_gene': 'PCID2', 'score': 12.39}, {'connected_gene': 'GAS6', 'score': 12.15}, {'connected_gene': 'GAS6-AS1', 'score': 10.32}, {'connected_gene': 'TMCO3', 'score': 9.86}, {'connected_gene': 'PIR60549', 'score': 0.44}]
chr13 GH13I113582 113582946 113583095 0.56 [{'connected_gene': 'TFDP1', 'score': 550.77}, {'connected_gene': 'TMCO3', 'score': 5.54}, {'connected_gene': 'ENSG00000276248', 'score': 0.22}]
chr13 GH13I113609 113609402 113609557 0.44 [{'connected_gene': 'GRK1', 'score': 13.14}, {'connected_gene': 'DCUN1D2', 'score': 1.79}, {'connected_gene': 'TMCO3', 'score': 1.64}, {'connected_gene': 'PIR60549', 'score': 0.37}, {'connected_gene': 'TFDP1', 'score': 0.34}, {'connected_gene': 'PIR44469', 'score': 0.26}, {'connected_gene': 'GC13P113655', 'score': 0.26}]
chr13 GH13I113615 113615801 113617815 1.36 [{'connected_gene': 'GRK1', 'score': 14.17}, {'connected_gene': 'DCUN1D2', 'score': 13.56}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.8}, {'connected_gene': 'TMCO3', 'score': 10.69}, {'connected_gene': 'PIR60549', 'score': 0.34}, {'connected_gene': 'TFDP1', 'score': 0.29}, {'connected_gene': 'PIR44469', 'score': 0.28}, {'connected_gene': 'GC13P113655', 'score': 0.28}]
chr13 GH13I113628 113628433 113630197 0.31 [{'connected_gene': 'GRK1', 'score': 15.72}, {'connected_gene': 'TMCO3', 'score': 10.83}, {'connected_gene': 'PIR44469', 'score': 0.34}, {'connected_gene': 'GC13P113655', 'score': 0.34}, {'connected_gene': 'PIR60549', 'score': 0.28}, {'connected_gene': 'TFDP1', 'score': 0.26}]
chr13 GH13I113616 113615244 113615644 0.31 [{'connected_gene': 'DCUN1D2', 'score': 10.82}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.8}, {'connected_gene': 'TMCO3', 'score': 6.42}, {'connected_gene': 'PIR60549', 'score': 0.34}, {'connected_gene': 'TFDP1', 'score': 0.29}, {'connected_gene': 'PIR44469', 'score': 0.28}, {'connected_gene': 'GC13P113655', 'score': 0.28}]
chr13 GH13I113619 113619380 113620457 0.31 [{'connected_gene': 'DCUN1D2', 'score': 10.96}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.29}, {'connected_gene': 'TMCO3', 'score': 9.41}, {'connected_gene': 'PIR60549', 'score': 0.31}, {'connected_gene': 'PIR44469', 'score': 0.29}, {'connected_gene': 'GC13P113655', 'score': 0.29}, {'connected_gene': 'TFDP1', 'score': 0.28}]
chr13 GH13I113596 113596229 113597160 0.2 [{'connected_gene': 'TMCO3', 'score': 10.69}, {'connected_gene': 'PIR60549', 'score': 0.77}, {'connected_gene': 'TFDP1', 'score': 0.39}, {'connected_gene': 'PIR44469', 'score': 0.22}, {'connected_gene': 'GC13P113655', 'score': 0.22}]
chr13 GH13I113472 113472731 113472898 0.33 [{'connected_gene': 'TMCO3', 'score': 14.96}, {'connected_gene': 'DCUN1D2', 'score': 6.07}, {'connected_gene': 'GRTP1', 'score': 2.27}, {'connected_gene': 'DCUN1D2-AS', 'score': 0.77}, {'connected_gene': 'GC13M113479', 'score': 0.44}, {'connected_gene': 'RNU1-16P', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.25}]
chr13 GH13I113606 113606413 113608792 1.2 [{'connected_gene': 'TMCO3', 'score': 11.1}, {'connected_gene': 'DCUN1D2', 'score': 2.71}, {'connected_gene': 'PIR60549', 'score': 0.37}, {'connected_gene': 'TFDP1', 'score': 0.34}, {'connected_gene': 'PIR44469', 'score': 0.25}, {'connected_gene': 'GC13P113655', 'score': 0.25}]
chr13 GH13I113562 113562179 113563175 0.92 [{'connected_gene': 'TMCO3', 'score': 13.53}, {'connected_gene': 'DCUN1D2', 'score': 5.67}, {'connected_gene': 'TFDP1', 'score': 0.34}, {'connected_gene': 'ENSG00000276248', 'score': 0.28}]
chr13 GH13I113544 113544035 113548955 0.98 [{'connected_gene': 'TMCO3', 'score': 36.25}, {'connected_gene': 'DCUN1D2', 'score': 5.52}, {'connected_gene': 'ENSG00000267868', 'score': 5.09}, {'connected_gene': 'ENSG00000276248', 'score': 0.37}, {'connected_gene': 'TFDP1', 'score': 0.28}]
chr13 GH13I113489 113489103 113496555 2.58 [{'connected_gene': 'TMCO3', 'score': 584.44}, {'connected_gene': 'DCUN1D2', 'score': 556.21}, {'connected_gene': 'TUBGCP3', 'score': 19.83}, {'connected_gene': 'PCID2', 'score': 14.74}, {'connected_gene': 'GRTP1', 'score': 13.18}, {'connected_gene': 'CDC16', 'score': 12.15}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.64}, {'connected_gene': 'ADPRHL1', 'score': 11.09}, {'connected_gene': 'CHAMP1', 'score': 10.19}, {'connected_gene': 'GRTP1-AS1', 'score': 9.92}, {'connected_gene': 'F7', 'score': 6.31}, {'connected_gene': 'F10', 'score': 3.88}, {'connected_gene': 'PROZ', 'score': 2.93}, {'connected_gene': 'ENSG00000276916', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.31}]
chr13 GH13I113557 113557601 113557800 0.46 [{'connected_gene': 'TMCO3', 'score': 24.87}, {'connected_gene': 'DCUN1D2', 'score': 17.0}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.65}, {'connected_gene': 'GRTP1', 'score': 10.03}, {'connected_gene': 'GRTP1-AS1', 'score': 10.03}, {'connected_gene': 'TFDP1', 'score': 0.31}, {'connected_gene': 'ENSG00000276248', 'score': 0.29}]
chr13 GH13I113617 113617984 113618940 0.2 [{'connected_gene': 'TMCO3', 'score': 10.98}, {'connected_gene': 'DCUN1D2', 'score': 10.96}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.3}, {'connected_gene': 'PIR60549', 'score': 0.31}, {'connected_gene': 'TFDP1', 'score': 0.29}, {'connected_gene': 'PIR44469', 'score': 0.28}, {'connected_gene': 'GC13P113655', 'score': 0.28}]
chr13 GH13I113531 113531072 113534827 0.49 [{'connected_gene': 'TMCO3', 'score': 37.4}, {'connected_gene': 'DCUN1D2', 'score': 16.92}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.62}, {'connected_gene': 'ADPRHL1', 'score': 7.05}, {'connected_gene': 'ENSG00000276248', 'score': 0.44}, {'connected_gene': 'TFDP1', 'score': 0.23}]
chr13 GH13I113507 113507472 113508848 0.84 [{'connected_gene': 'TMCO3', 'score': 32.37}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.52}, {'connected_gene': 'DCUN1D2', 'score': 5.8}, {'connected_gene': 'LAMP1', 'score': 1.63}, {'connected_gene': 'ENSG00000276916', 'score': 0.77}, {'connected_gene': 'GC13M113076', 'score': 0.39}]
chr13 GH13I113505 113505385 113506933 0.72 [{'connected_gene': 'TMCO3', 'score': 32.38}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.4}, {'connected_gene': 'DCUN1D2', 'score': 6.47}, {'connected_gene': 'ENSG00000276916', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.39}]
chr13 GH13I113474 113474102 113474935 0.49 [{'connected_gene': 'TMCO3', 'score': 15.73}, {'connected_gene': 'GC13M113479', 'score': 0.77}, {'connected_gene': 'RNU1-16P', 'score': 0.77}, {'connected_gene': 'DCUN1D2-AS', 'score': 0.44}, {'connected_gene': 'DCUN1D2', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.25}]
chr13 GH13I113656 113656983 113658953 0.93 [{'connected_gene': 'ATP4B', 'score': 550.77}, {'connected_gene': 'GRK1', 'score': 8.77}, {'connected_gene': 'TMEM255B', 'score': 5.05}, {'connected_gene': 'TMCO3', 'score': 4.81}, {'connected_gene': 'LINC00552', 'score': 4.71}, {'connected_gene': 'PIR44469', 'score': 0.77}, {'connected_gene': 'GC13P113655', 'score': 0.77}]
chr13 GH13I113801 113801259 113802957 0.38 [{'connected_gene': 'TMEM255B', 'score': 46.73}, {'connected_gene': 'TMCO3', 'score': 5.92}, {'connected_gene': 'GAS6-AS1', 'score': 0.39}]
chr13 GH13I113426 113426036 113426174 0.55 [{'connected_gene': 'ADPRHL1', 'score': 11.66}, {'connected_gene': 'GRTP1', 'score': 11.43}, {'connected_gene': 'GRTP1-AS1', 'score': 11.41}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.3}, {'connected_gene': 'DCUN1D2', 'score': 11.25}, {'connected_gene': 'TMCO3', 'score': 10.66}, {'connected_gene': 'LOC101928841', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.16}]
chr13 GH13I113447 113447894 113450421 2 [{'connected_gene': 'ADPRHL1', 'score': 550.77}, {'connected_gene': 'PCID2', 'score': 27.16}, {'connected_gene': 'TUBGCP3', 'score': 26.71}, {'connected_gene': 'CDC16', 'score': 22.13}, {'connected_gene': 'CHAMP1', 'score': 20.09}, {'connected_gene': 'DCUN1D2', 'score': 16.95}, {'connected_gene': 'TMCO3', 'score': 6.34}, {'connected_gene': 'LOC101928841', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.19}]
chr13 GH13I113451 113451629 113455025 1.3 [{'connected_gene': 'ADPRHL1', 'score': 550.77}, {'connected_gene': 'DCUN1D2', 'score': 19.72}, {'connected_gene': 'TMCO3', 'score': 11.08}, {'connected_gene': 'UPF3A', 'score': 4.98}, {'connected_gene': 'LOC101928841', 'score': 0.29}, {'connected_gene': 'GC13M113076', 'score': 0.2}]
chr13 GH13I113446 113446146 113446295 0.46 [{'connected_gene': 'DCUN1D2-AS', 'score': 11.82}, {'connected_gene': 'DCUN1D2', 'score': 11.74}, {'connected_gene': 'ADPRHL1', 'score': 6.88}, {'connected_gene': 'TMCO3', 'score': 6.49}, {'connected_gene': 'LOC101928841', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.19}]
chr13 GH13I113468 113468294 113469661 0.63 [{'connected_gene': 'DCUN1D2-AS', 'score': 550.77}, {'connected_gene': 'TMCO3', 'score': 13.98}, {'connected_gene': 'DCUN1D2', 'score': 5.73}, {'connected_gene': 'CHAMP1', 'score': 5.26}, {'connected_gene': 'GC13M113479', 'score': 0.39}, {'connected_gene': 'RNU1-16P', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.23}]
chr13 GH13I113527 113527401 113528600 0.2 [{'connected_gene': 'ENSG00000276248', 'score': 550.77}, {'connected_gene': 'GC13P113528', 'score': 550.77}, {'connected_gene': 'TMCO3', 'score': 46.29}, {'connected_gene': 'DCUN1D2', 'score': 16.65}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.35}, {'connected_gene': 'ADPRHL1', 'score': 11.01}, {'connected_gene': 'TFDP1', 'score': 0.22}]
chr13 GH13I113653 113653426 113654001 0.46 [{'connected_gene': 'PIR44469', 'score': 550.77}, {'connected_gene': 'GC13P113655', 'score': 550.77}, {'connected_gene': 'TMCO3', 'score': 4.84}, {'connected_gene': 'ATP4B', 'score': 0.77}, {'connected_gene': 'PIR60549', 'score': 0.21}]

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