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
ENST00000494371 [[230778234, 230778424], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230804672, 230804868], [230805101, 230807386], [230810743, 230810870], [230814658, 230819174]] None
ENST00000366669 [[230778237, 230778424], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829728]] [[230778352, 230778424], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829139]]
ENST00000535166 [[230778250, 230778424], [230795209, 230795371], [230796503, 230796569], [230797070, 230797303], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829371]] [[230798934, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829139]]
ENST00000468893 [[230778250, 230778424], [230795209, 230795371], [230796503, 230796569], [230797070, 230797303], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829371]] [[230778352, 230778424], [230795209, 230795371], [230796503, 230796569], [230797070, 230797145]]
ENST00000366668 [[230778312, 230778424], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824168, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829728]] [[230778352, 230778424], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824168, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829139]]
ENST00000534989 [[230778556, 230778786], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829727]] [[230795314, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829139]]
ENST00000546013 [[230814375, 230814523], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829200]] [[230814430, 230814523], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829139]]
ENST00000473671 [[230778266, 230778424], [230795209, 230795371], [230796503, 230796619]] None
ENST00000482012 [[230820068, 230820186], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824274]] None
ENST00000490900 [[230823735, 230824308], [230825759, 230826065]] None
ENST00000478710 [[230825706, 230825899], [230827129, 230827565]] None
NM_001145036 [[230778201, 230778424], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824168, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829731]] [[230778352, 230778424], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824168, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829139]]
NM_007357 [[230778201, 230778424], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829731]] [[230778352, 230778424], [230795209, 230795371], [230796503, 230796569], [230798886, 230798967], [230800229, 230800333], [230804421, 230804530], [230805101, 230805281], [230807261, 230807386], [230810743, 230810870], [230814658, 230814798], [230819319, 230819381], [230820830, 230820982], [230822680, 230822878], [230823816, 230823889], [230824165, 230824308], [230825759, 230825899], [230827129, 230827310], [230829037, 230829139]]
Promoter
Chrom Start End Description
chr1 230778211 230778276 CAGE_peak_1_at_COG2_5end
chr1 230778286 230778297 CAGE_peak_2_at_COG2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I230806 230806403 230809616 0.75 [{'connected_gene': 'C1orf198', 'score': 17.77}, {'connected_gene': 'CAPN9', 'score': 14.17}, {'connected_gene': 'LOC101927604', 'score': 10.88}, {'connected_gene': 'COG2', 'score': 9.69}, {'connected_gene': 'ENSG00000244137', 'score': 0.39}, {'connected_gene': 'GC01P230821', 'score': 0.39}]
chr1 GH01I230800 230800173 230802106 0.46 [{'connected_gene': 'C1orf198', 'score': 10.71}, {'connected_gene': 'LOC101927604', 'score': 10.69}, {'connected_gene': 'AGT', 'score': 10.58}, {'connected_gene': 'COG2', 'score': 9.69}, {'connected_gene': 'CAPN9', 'score': 7.69}, {'connected_gene': 'ENSG00000244137', 'score': 0.44}, {'connected_gene': 'GC01P230821', 'score': 0.37}, {'connected_gene': 'GC01P230769', 'score': 0.29}]
chr1 GH01I231527 231527091 231531007 2.42 [{'connected_gene': 'TSNAX', 'score': 557.03}, {'connected_gene': 'TSNAX-DISC1', 'score': 550.77}, {'connected_gene': 'ENSG00000233461', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 15.79}, {'connected_gene': 'COG2', 'score': 10.83}, {'connected_gene': 'DISC1', 'score': 6.11}, {'connected_gene': 'GNPAT', 'score': 5.53}, {'connected_gene': 'EXOC8', 'score': 4.66}, {'connected_gene': 'SPRTN', 'score': 1.98}, {'connected_gene': 'GC01P231515', 'score': 0.39}, {'connected_gene': 'GC01P231590', 'score': 0.21}, {'connected_gene': 'GC01P231591', 'score': 0.21}]
chr1 GH01I230121 230121981 230127600 1.68 [{'connected_gene': 'NUP133', 'score': 12.96}, {'connected_gene': 'TAF5L', 'score': 11.49}, {'connected_gene': 'URB2', 'score': 10.4}, {'connected_gene': 'ABCB10', 'score': 10.24}, {'connected_gene': 'COG2', 'score': 9.84}, {'connected_gene': 'GALNT2', 'score': 6.29}, {'connected_gene': 'GC01P230113', 'score': 0.39}, {'connected_gene': 'GC01M230200', 'score': 0.13}]
chr1 GH01I230156 230156794 230161890 1.4 [{'connected_gene': 'NUP133', 'score': 12.97}, {'connected_gene': 'TAF5L', 'score': 11.48}, {'connected_gene': 'URB2', 'score': 10.39}, {'connected_gene': 'ABCB10', 'score': 10.25}, {'connected_gene': 'COG2', 'score': 9.85}, {'connected_gene': 'GC01P230113', 'score': 0.25}, {'connected_gene': 'GC01M230200', 'score': 0.17}, {'connected_gene': 'GALNT2', 'score': 0.15}]
chr1 GH01I230168 230167400 230167801 1.32 [{'connected_gene': 'NUP133', 'score': 21.41}, {'connected_gene': 'COG2', 'score': 13.69}, {'connected_gene': 'GC01P230113', 'score': 0.23}, {'connected_gene': 'GC01M230200', 'score': 0.18}, {'connected_gene': 'GALNT2', 'score': 0.14}]
chr1 GH01I230142 230142601 230148423 1.86 [{'connected_gene': 'NUP133', 'score': 49.75}, {'connected_gene': 'LOC105373159', 'score': 30.43}, {'connected_gene': 'URB2', 'score': 18.39}, {'connected_gene': 'ENSG00000226920', 'score': 10.01}, {'connected_gene': 'COG2', 'score': 9.79}, {'connected_gene': 'HMGN2P19', 'score': 9.73}, {'connected_gene': 'GC01P230113', 'score': 0.29}, {'connected_gene': 'GALNT2', 'score': 0.17}, {'connected_gene': 'GC01M230200', 'score': 0.15}]
chr1 GH01I231418 231418000 231423944 2.32 [{'connected_gene': 'EGLN1', 'score': 561.46}, {'connected_gene': 'SPRTN', 'score': 15.88}, {'connected_gene': 'COG2', 'score': 13.14}, {'connected_gene': 'C1orf131', 'score': 12.76}, {'connected_gene': 'PIR59803', 'score': 0.22}]
chr1 GH01I231393 231393211 231397206 1.34 [{'connected_gene': 'EGLN1', 'score': 20.43}, {'connected_gene': 'SPRTN', 'score': 18.67}, {'connected_gene': 'C1orf131', 'score': 15.83}, {'connected_gene': 'COG2', 'score': 10.84}, {'connected_gene': 'EXOC8', 'score': 10.4}, {'connected_gene': 'GNPAT', 'score': 4.84}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1 GH01I231037 231037484 231041518 2.04 [{'connected_gene': 'FAM89A', 'score': 560.61}, {'connected_gene': 'C1orf131', 'score': 62.98}, {'connected_gene': 'COG2', 'score': 18.64}, {'connected_gene': 'ARV1', 'score': 10.98}, {'connected_gene': 'SPRTN', 'score': 10.81}, {'connected_gene': 'LOC644006', 'score': 5.6}]
chr1 GH01I231625 231625939 231629214 2.04 [{'connected_gene': 'DISC1', 'score': 569.02}, {'connected_gene': 'C1orf131', 'score': 36.11}, {'connected_gene': 'SPRTN', 'score': 11.81}, {'connected_gene': 'ARV1', 'score': 10.8}, {'connected_gene': 'COG2', 'score': 9.77}, {'connected_gene': 'RNU5A-5P', 'score': 0.26}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.15}]
chr1 GH01I230101 230101822 230108157 1.75 [{'connected_gene': 'ABCB10', 'score': 21.19}, {'connected_gene': 'GALNT2', 'score': 18.38}, {'connected_gene': 'NUP133', 'score': 12.44}, {'connected_gene': 'COG2', 'score': 10.84}, {'connected_gene': 'GC01P230113', 'score': 0.44}]
chr1 GH01I230641 230641815 230645056 2.1 [{'connected_gene': 'COG2', 'score': 550.77}, {'connected_gene': 'C1orf198', 'score': 9.84}, {'connected_gene': 'LOC101927604', 'score': 9.84}, {'connected_gene': 'AGT', 'score': 6.89}, {'connected_gene': 'GC01P230645', 'score': 0.77}]
chr1 GH01I230556 230556582 230556696 0.25 [{'connected_gene': 'COG2', 'score': 9.62}, {'connected_gene': 'TTC13', 'score': 1.76}, {'connected_gene': 'LOC105373165', 'score': 0.44}, {'connected_gene': 'LINC01737', 'score': 0.28}]
chr1 GH01I230683 230683315 230683464 0.38 [{'connected_gene': 'COG2', 'score': 10.58}, {'connected_gene': 'GC01P230666', 'score': 0.37}, {'connected_gene': 'AGT', 'score': 0.29}]
chr1 GH01I230570 230570686 230573581 0.8 [{'connected_gene': 'COG2', 'score': 10.2}, {'connected_gene': 'LOC105373165', 'score': 0.34}, {'connected_gene': 'LINC01737', 'score': 0.34}]
chr1 GH01I230518 230518655 230518785 0.2 [{'connected_gene': 'COG2', 'score': 9.42}, {'connected_gene': 'LOC105373164', 'score': 0.34}, {'connected_gene': 'LOC105373165', 'score': 0.29}]
chr1 GH01I230600 230600577 230601344 0.2 [{'connected_gene': 'COG2', 'score': 11.06}, {'connected_gene': 'LINC01737', 'score': 0.44}, {'connected_gene': 'GC01M230612', 'score': 0.39}]
chr1 GH01I230428 230428853 230430395 0.43 [{'connected_gene': 'COG2', 'score': 9.14}, {'connected_gene': 'ENSG00000282564', 'score': 0.77}, {'connected_gene': 'GC01M230446', 'score': 0.31}]
chr1 GH01I230640 230640084 230640355 0.71 [{'connected_gene': 'COG2', 'score': 0.77}, {'connected_gene': 'GC01P230623', 'score': 0.37}]
chr1 GH01I230681 230681521 230682364 0.93 [{'connected_gene': 'AGT', 'score': 8.17}, {'connected_gene': 'CAPN9', 'score': 5.25}, {'connected_gene': 'GC01P230666', 'score': 0.37}, {'connected_gene': 'COG2', 'score': 0.28}]
chr1 GH01I230799 230799248 230799779 0.2 [{'connected_gene': 'AGT', 'score': 11.12}, {'connected_gene': 'LOC101927604', 'score': 10.84}, {'connected_gene': 'C1orf198', 'score': 10.69}, {'connected_gene': 'COG2', 'score': 9.69}, {'connected_gene': 'CAPN9', 'score': 6.48}, {'connected_gene': 'ENSG00000244137', 'score': 0.77}, {'connected_gene': 'GC01P230821', 'score': 0.34}, {'connected_gene': 'GC01P230769', 'score': 0.31}]
chr1 GH01I231389 231389431 231391713 0.92 [{'connected_gene': 'C1orf131', 'score': 14.37}, {'connected_gene': 'EGLN1', 'score': 12.29}, {'connected_gene': 'COG2', 'score': 10.49}, {'connected_gene': 'SPRTN', 'score': 7.87}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1 GH01I230971 230971786 230973962 0.94 [{'connected_gene': 'C1orf131', 'score': 16.2}, {'connected_gene': 'FAM89A', 'score': 14.86}, {'connected_gene': 'ARV1', 'score': 10.23}, {'connected_gene': 'COG2', 'score': 9.86}, {'connected_gene': 'TTC13', 'score': 9.07}, {'connected_gene': 'C1orf198', 'score': 4.4}, {'connected_gene': 'GC01P230904', 'score': 0.2}]
chr1 GH01I231603 231603551 231604764 1.08 [{'connected_gene': 'C1orf131', 'score': 25.93}, {'connected_gene': 'DISC1', 'score': 17.38}, {'connected_gene': 'EGLN1', 'score': 10.3}, {'connected_gene': 'COG2', 'score': 9.83}, {'connected_gene': 'GNPAT', 'score': 9.79}, {'connected_gene': 'SPRTN', 'score': 4.86}, {'connected_gene': 'LINC00582', 'score': 0.44}, {'connected_gene': 'GC01P231590', 'score': 0.39}, {'connected_gene': 'GC01P231591', 'score': 0.39}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.18}]
chr1 GH01I231210 231210955 231212917 1.44 [{'connected_gene': 'C1orf131', 'score': 31.44}, {'connected_gene': 'COG2', 'score': 21.34}, {'connected_gene': 'GNPAT', 'score': 16.79}, {'connected_gene': 'FAM89A', 'score': 10.8}, {'connected_gene': 'LOC644006', 'score': 10.8}, {'connected_gene': 'MIR1182', 'score': 10.8}, {'connected_gene': 'LOC101927604', 'score': 10.36}, {'connected_gene': 'C1orf198', 'score': 10.35}, {'connected_gene': 'SPRTN', 'score': 1.39}, {'connected_gene': 'LOC149373', 'score': 0.34}, {'connected_gene': 'TRIM67', 'score': 0.25}]
chr1 GH01I230758 230758355 230760858 0.94 [{'connected_gene': 'CAPN9', 'score': 19.83}, {'connected_gene': 'AGT', 'score': 11.46}, {'connected_gene': 'COG2', 'score': 10.6}, {'connected_gene': 'LOC101927604', 'score': 10.36}, {'connected_gene': 'GC01P230769', 'score': 0.39}, {'connected_gene': 'ENSG00000244137', 'score': 0.28}]
chr1 GH01I230750 230750246 230755426 1.7 [{'connected_gene': 'CAPN9', 'score': 19.26}, {'connected_gene': 'AGT', 'score': 16.3}, {'connected_gene': 'COG2', 'score': 10.52}, {'connected_gene': 'GC01P230769', 'score': 0.37}, {'connected_gene': 'ENSG00000244137', 'score': 0.26}]
chr1 GH01I230902 230902385 230902708 0.24 [{'connected_gene': 'LOC101927604', 'score': 11.24}, {'connected_gene': 'C1orf198', 'score': 11.18}, {'connected_gene': 'ARV1', 'score': 7.74}, {'connected_gene': 'TTC13', 'score': 3.64}, {'connected_gene': 'COG2', 'score': 2.27}, {'connected_gene': 'C1orf131', 'score': 1.62}, {'connected_gene': 'GNPAT', 'score': 1.29}, {'connected_gene': 'GC01P230904', 'score': 0.77}, {'connected_gene': 'RN7SL837P', 'score': 0.44}]
chr1 GH01I230426 230426832 230428815 0.97 [{'connected_gene': 'ENSG00000282564', 'score': 550.77}, {'connected_gene': 'PGBD5', 'score': 550.77}, {'connected_gene': 'COG2', 'score': 9.5}, {'connected_gene': 'GC01M230446', 'score': 0.31}]
chr1 GH01I230730 230730482 230731623 0.97 [{'connected_gene': 'GC01P230729', 'score': 550.77}, {'connected_gene': 'COG2', 'score': 10.08}, {'connected_gene': 'AGT', 'score': 7.97}, {'connected_gene': 'LOC105373166', 'score': 0.39}, {'connected_gene': 'ENSG00000244137', 'score': 0.21}]
chr1 GH01I230728 230728485 230730070 1.15 [{'connected_gene': 'GC01P230729', 'score': 550.77}, {'connected_gene': 'COG2', 'score': 10.18}, {'connected_gene': 'AGT', 'score': 7.34}, {'connected_gene': 'LOC105373166', 'score': 0.37}, {'connected_gene': 'ENSG00000244137', 'score': 0.2}]
chr1 GH01I230820 230820574 230828814 1.21 [{'connected_gene': 'ENSG00000225656', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 27.19}, {'connected_gene': 'C1orf198', 'score': 18.03}, {'connected_gene': 'LOC101927604', 'score': 17.36}, {'connected_gene': 'CAPN9', 'score': 13.03}, {'connected_gene': 'COG2', 'score': 9.46}, {'connected_gene': 'ENSG00000244137', 'score': 5.88}, {'connected_gene': 'RNA5SP79', 'score': 0.77}]
chr1 GH01I230768 230768848 230770004 0.87 [{'connected_gene': 'GC01P230769', 'score': 550.77}, {'connected_gene': 'CAPN9', 'score': 30.43}, {'connected_gene': 'LOC101927604', 'score': 10.83}, {'connected_gene': 'C1orf198', 'score': 10.18}, {'connected_gene': 'COG2', 'score': 10.12}, {'connected_gene': 'ENSG00000244137', 'score': 0.31}]

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