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
ENST00000265077 [[82767283, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82832825, 82838087], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82878122]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82832825, 82838087], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876253]]
ENST00000342785 [[82767492, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82878122]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876253]]
ENST00000343200 [[82767492, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82832825, 82838087], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82878122]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82832825, 82838087], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876253]]
ENST00000512590 [[82767582, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876981]] [[82785990, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876253]]
ENST00000502527 [[82767743, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876267]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876253]]
ENST00000513016 [[82831432, 82838087], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82877155]] None
ENST00000503923 [[82767436, 82767842], [82779331, 82779423]] None
ENST00000513960 [[82767595, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82832825, 82835503]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82832825, 82835503]]
ENST00000513984 [[82767609, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808759]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808238]]
ENST00000515397 [[82807920, 82808215], [82832825, 82833066]] None
ENST00000507162 [[82837766, 82838087], [82840783, 82840889], [82841355, 82841469], [82843789, 82843903], [82849182, 82849293]] None
ENST00000505615 [[82849180, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82876219]] None
NM_001126336 [[82767492, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82878122]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876253]]
NM_001164097 [[82767492, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82832825, 82838087], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82878122]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82832825, 82838087], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876253]]
NM_001164098 [[82767492, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82878122]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876253]]
NM_004385 [[82767492, 82767842], [82779331, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82832825, 82838087], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82878122]] [[82779337, 82779407], [82785916, 82786291], [82789364, 82789539], [82789622, 82789750], [82807921, 82808215], [82815167, 82818128], [82832825, 82838087], [82841355, 82841469], [82843789, 82843903], [82849182, 82849341], [82850774, 82850857], [82868234, 82868379], [82875798, 82875981], [82876125, 82876253]]
Promoter
Chrom Start End Description
chr5 82767238 82767265 CAGE_peak_6_at_VCAN_5end
chr5 82767299 82767310 CAGE_peak_10_at_VCAN_5end
chr5 82767350 82767362 CAGE_peak_7_at_VCAN_5end
chr5 82767383 82767423 CAGE_peak_3_at_VCAN_5end
chr5 82767487 82767510 CAGE_peak_5_at_VCAN_5end
chr5 82767523 82767543 CAGE_peak_4_at_VCAN_5end
chr5 82767555 82767575 CAGE_peak_1_at_VCAN_5end
chr5 82767585 82767607 CAGE_peak_2_at_VCAN_5end
chr5 82789361 82789380 CAGE_peak_13_at_VCAN_5end
chr5 82808116 82808153 CAGE_peak_12_at_VCAN_5end
chr5 82808155 82808193 CAGE_peak_9_at_VCAN_5end
chr5 82817501 82817514 CAGE_peak_11_at_VCAN_5end
chr5 82818036 82818054 CAGE_peak_14_at_VCAN_5end
chr5 82837130 82837153 CAGE_peak_8_at_VCAN_5end
chr5 82837460 82837472 CAGE_peak_15_at_VCAN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I083156 83156801 83157422 0.47 [{'connected_gene': 'XRCC4', 'score': 33.67}, {'connected_gene': 'VCAN', 'score': 4.95}, {'connected_gene': 'TMEM167A', 'score': 1.83}, {'connected_gene': 'RPL13P9', 'score': 0.26}]
chr5 GH05I083340 83340616 83340675 0.56 [{'connected_gene': 'XRCC4', 'score': 2.02}, {'connected_gene': 'VCAN', 'score': 1.25}, {'connected_gene': 'GC05P083318', 'score': 0.34}, {'connected_gene': 'LOC105379053', 'score': 0.25}]
chr5 GH05I082622 82622130 82624236 0.81 [{'connected_gene': 'VCAN', 'score': 5.65}, {'connected_gene': 'ATG10', 'score': 4.75}, {'connected_gene': 'GC05P082633', 'score': 0.39}, {'connected_gene': 'ENSG00000248870', 'score': 0.28}]
chr5 GH05I083312 83312582 83313400 0.6 [{'connected_gene': 'VCAN', 'score': 10.16}, {'connected_gene': 'XRCC4', 'score': 2.63}, {'connected_gene': 'TMEM167A', 'score': 1.76}, {'connected_gene': 'GC05P083318', 'score': 0.44}, {'connected_gene': 'GC05M083273', 'score': 0.31}]
chr5 GH05I083511 83511261 83511592 0.49 [{'connected_gene': 'VCAN', 'score': 3.25}, {'connected_gene': 'XRCC4', 'score': 1.36}, {'connected_gene': 'VCAN-AS1', 'score': 0.2}]
chr5 GH05I083368 83368024 83369600 1.28 [{'connected_gene': 'VCAN', 'score': 15.72}, {'connected_gene': 'TMEM167A', 'score': 2.25}, {'connected_gene': 'XRCC4', 'score': 2.08}, {'connected_gene': 'LOC105379053', 'score': 0.37}, {'connected_gene': 'GC05P083318', 'score': 0.23}]
chr5 GH05I083376 83376312 83378615 1.09 [{'connected_gene': 'VCAN', 'score': 11.39}, {'connected_gene': 'TMEM167A', 'score': 1.48}, {'connected_gene': 'XRCC4', 'score': 1.25}, {'connected_gene': 'LOC105379053', 'score': 0.39}, {'connected_gene': 'GC05P083318', 'score': 0.22}]
chr5 GH05I083470 83470576 83476929 2.51 [{'connected_gene': 'VCAN', 'score': 559.9}, {'connected_gene': 'TMEM167A', 'score': 1.19}, {'connected_gene': 'VCAN-AS1', 'score': 0.14}]
chr5 GH05I083374 83374600 83375401 0.77 [{'connected_gene': 'VCAN', 'score': 9.62}, {'connected_gene': 'TMEM167A', 'score': 1.23}, {'connected_gene': 'LOC105379053', 'score': 0.39}, {'connected_gene': 'GC05P083318', 'score': 0.22}]
chr5 GH05I083467 83467499 83468518 0.51 [{'connected_gene': 'VCAN', 'score': 0.77}, {'connected_gene': 'FTH1P9', 'score': 0.26}]
chr5 GH05I083450 83450487 83451366 0.52 [{'connected_gene': 'VCAN', 'score': 0.34}, {'connected_gene': 'FTH1P9', 'score': 0.34}]
chr5 GH05I083463 83463601 83463800 0.2 [{'connected_gene': 'VCAN', 'score': 0.44}, {'connected_gene': 'FTH1P9', 'score': 0.28}]
chr5 GH05I083590 83590578 83590942 0.26 [{'connected_gene': 'VCAN', 'score': 4.14}, {'connected_gene': 'VCAN-AS1', 'score': 0.44}, {'connected_gene': 'GC05M083641', 'score': 0.23}, {'connected_gene': 'GC05M083642', 'score': 0.23}]
chr5 GH05I083491 83491221 83497106 0.71 [{'connected_gene': 'VCAN', 'score': 0.34}, {'connected_gene': 'VCAN-AS1', 'score': 0.17}]
chr5 GH05I083481 83481689 83488726 0.59 [{'connected_gene': 'VCAN', 'score': 0.39}, {'connected_gene': 'VCAN-AS1', 'score': 0.15}]
chr5 GH05I083512 83512684 83514224 0.31 [{'connected_gene': 'VCAN', 'score': 0.26}, {'connected_gene': 'VCAN-AS1', 'score': 0.2}]
chr5 GH05I083478 83478579 83480956 0.49 [{'connected_gene': 'VCAN', 'score': 0.44}, {'connected_gene': 'VCAN-AS1', 'score': 0.15}]
chr5 GH05I083515 83515710 83519356 0.51 [{'connected_gene': 'VCAN', 'score': 0.25}, {'connected_gene': 'VCAN-AS1', 'score': 0.21}]
chr5 GH05I083498 83498098 83501816 0.43 [{'connected_gene': 'VCAN', 'score': 0.31}, {'connected_gene': 'VCAN-AS1', 'score': 0.18}]
chr5 GH05I083406 83406960 83407171 0.36 [{'connected_gene': 'VCAN', 'score': 4.24}, {'connected_gene': 'LOC105379053', 'score': 0.37}, {'connected_gene': 'FTH1P9', 'score': 0.37}]
chr5 GH05I083400 83400306 83400538 0.28 [{'connected_gene': 'VCAN', 'score': 3.58}, {'connected_gene': 'LOC105379053', 'score': 0.39}, {'connected_gene': 'FTH1P9', 'score': 0.31}]
chr5 GH05I083375 83374171 83374383 0.46 [{'connected_gene': 'VCAN', 'score': 6.24}, {'connected_gene': 'LOC105379053', 'score': 0.39}, {'connected_gene': 'GC05P083318', 'score': 0.22}]
chr5 GH05I083379 83378982 83379278 0.68 [{'connected_gene': 'VCAN', 'score': 6.11}, {'connected_gene': 'LOC105379053', 'score': 0.44}, {'connected_gene': 'GC05P083318', 'score': 0.21}]
chr5 GH05I083306 83306262 83307690 1.23 [{'connected_gene': 'VCAN', 'score': 13.13}, {'connected_gene': 'LOC105379052', 'score': 4.27}, {'connected_gene': 'TMEM167A', 'score': 1.87}, {'connected_gene': 'XRCC4', 'score': 1.85}, {'connected_gene': 'GC05P083318', 'score': 0.39}, {'connected_gene': 'GC05M083273', 'score': 0.34}]
chr5 GH05I083430 83430522 83430671 0.77 [{'connected_gene': 'FTH1P9', 'score': 0.77}, {'connected_gene': 'VCAN', 'score': 0.26}]
chr5 GH05I083531 83531110 83532493 0.38 [{'connected_gene': 'VCAN-AS1', 'score': 11.38}, {'connected_gene': 'VCAN', 'score': 0.21}]
chr5 GH05I083576 83576382 83577928 0.88 [{'connected_gene': 'VCAN-AS1', 'score': 0.77}, {'connected_gene': 'VCAN', 'score': 0.14}]
chr5 GH05I083526 83526611 83529275 0.69 [{'connected_gene': 'VCAN-AS1', 'score': 0.23}, {'connected_gene': 'VCAN', 'score': 0.22}]
chr5 GH05I083503 83503226 83504287 0.2 [{'connected_gene': 'VCAN-AS1', 'score': 10.76}, {'connected_gene': 'VCAN', 'score': 0.29}]
chr5 GH05I083509 83509158 83510602 1.16 [{'connected_gene': 'VCAN-AS1', 'score': 10.77}, {'connected_gene': 'VCAN', 'score': 0.28}]
chr5 GH05I083551 83551718 83552559 0.54 [{'connected_gene': 'VCAN-AS1', 'score': 12.52}, {'connected_gene': 'VCAN', 'score': 0.18}]
chr5 GH05I083535 83535144 83536735 0.31 [{'connected_gene': 'VCAN-AS1', 'score': 11.38}, {'connected_gene': 'VCAN', 'score': 0.21}]
chr5 GH05I083567 83567475 83568802 0.62 [{'connected_gene': 'VCAN-AS1', 'score': 0.39}, {'connected_gene': 'VCAN', 'score': 0.15}]
chr5 GH05I083539 83539201 83539400 0.58 [{'connected_gene': 'VCAN-AS1', 'score': 11.47}, {'connected_gene': 'VCAN', 'score': 0.2}]
chr5 GH05I083548 83548229 83550404 0.31 [{'connected_gene': 'VCAN-AS1', 'score': 0.29}, {'connected_gene': 'VCAN', 'score': 0.18}]
chr5 GH05I083561 83561656 83563912 1.09 [{'connected_gene': 'VCAN-AS1', 'score': 0.37}, {'connected_gene': 'VCAN', 'score': 0.16}]
chr5 GH05I083552 83552787 83553891 0.31 [{'connected_gene': 'VCAN-AS1', 'score': 17.03}, {'connected_gene': 'VCAN', 'score': 0.18}]
chr5 GH05I083564 83564242 83564391 0.57 [{'connected_gene': 'VCAN-AS1', 'score': 0.37}, {'connected_gene': 'VCAN', 'score': 0.16}]
chr5 GH05I083387 83387039 83387354 0.66 [{'connected_gene': 'LOC105379053', 'score': 550.77}, {'connected_gene': 'VCAN', 'score': 5.19}, {'connected_gene': 'GC05P083318', 'score': 0.2}]

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