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
ENST00000367941 [[132767005, 132781989], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824727], [132834145, 132834201]] [[132781896, 132781989], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824669]]
ENST00000367937 [[132782852, 132782999], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824727], [132834145, 132834337]] [[132782972, 132782999], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824669]]
ENST00000448348 [[132791132, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824653], [132834196, 132834274]] None
ENST00000475879 [[132796418, 132796801], [132824584, 132824727], [132834145, 132834204]] None
NM_001326578 [[132778662, 132781989], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824727], [132833665, 132833934]] [[132781896, 132781989], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824669]]
NM_003569 [[132778662, 132781989], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824727], [132834145, 132834337]] [[132781896, 132781989], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824669]]
NR_137169 [[132778662, 132781989], [132785131, 132785214], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824727], [132834145, 132834337]] None
NM_001326579 [[132778662, 132781989], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824727], [132834555, 132834611]] [[132781896, 132781989], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824669]]
NM_001326580 [[132782612, 132782999], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824727], [132834145, 132834337]] [[132782972, 132782999], [132785131, 132785214], [132789541, 132789614], [132791089, 132791186], [132791712, 132791765], [132792601, 132792739], [132793420, 132793514], [132796731, 132796801], [132824584, 132824669]]
Promoter
Chrom Start End Description
chr6 132834184 132834263 CAGE_peak_1_at_STX7_5end
chr6 132834443 132834454 CAGE_peak_6_at_STX7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I132746 132746142 132746474 0.59 [{'connected_gene': 'VNN2', 'score': 89.09}, {'connected_gene': 'STX7', 'score': 5.63}, {'connected_gene': 'SLC18B1', 'score': 4.59}, {'connected_gene': 'ENSG00000234484', 'score': 0.44}, {'connected_gene': 'VNN3', 'score': 0.39}]
chr6 GH06I132755 132755401 132759400 1.68 [{'connected_gene': 'VNN2', 'score': 613.86}, {'connected_gene': 'ENSG00000234484', 'score': 24.06}, {'connected_gene': 'VNN3', 'score': 17.77}, {'connected_gene': 'STX7', 'score': 5.81}, {'connected_gene': 'SLC18B1', 'score': 4.74}]
chr6 GH06I132748 132748532 132749800 1.24 [{'connected_gene': 'VNN2', 'score': 78.42}, {'connected_gene': 'VNN3', 'score': 16.87}, {'connected_gene': 'STX7', 'score': 6.18}, {'connected_gene': 'SLC18B1', 'score': 4.81}, {'connected_gene': 'ENSG00000234484', 'score': 0.77}]
chr6 GH06I132510 132510540 132514972 2.55 [{'connected_gene': 'STX7', 'score': 563.72}, {'connected_gene': 'MED23', 'score': 19.19}, {'connected_gene': 'SNORA33', 'score': 12.24}, {'connected_gene': 'LOC100421775', 'score': 10.25}, {'connected_gene': 'ENPP1', 'score': 9.86}, {'connected_gene': 'VNN2', 'score': 9.56}, {'connected_gene': 'VNN1', 'score': 2.74}, {'connected_gene': 'MOXD1', 'score': 0.14}]
chr6 GH06I132489 132489385 132492321 1.11 [{'connected_gene': 'STX7', 'score': 20.13}, {'connected_gene': 'MOXD1', 'score': 11.1}, {'connected_gene': 'VNN1', 'score': 2.72}, {'connected_gene': 'TAAR6', 'score': 1.61}, {'connected_gene': 'VNN2', 'score': 1.61}, {'connected_gene': 'TAAR5', 'score': 1.37}, {'connected_gene': 'SLC18B1', 'score': 1.27}]
chr6 GH06I132470 132470881 132473338 0.2 [{'connected_gene': 'STX7', 'score': 0.26}, {'connected_gene': 'MOXD1', 'score': 0.19}]
chr6 GH06I132504 132504882 132505031 0.69 [{'connected_gene': 'STX7', 'score': 7.03}, {'connected_gene': 'MOXD1', 'score': 0.15}]
chr6 GH06I132484 132484262 132484451 0.82 [{'connected_gene': 'STX7', 'score': 11.6}, {'connected_gene': 'MOXD1', 'score': 0.18}]
chr6 GH06I132465 132465502 132465709 0.4 [{'connected_gene': 'STX7', 'score': 10.53}, {'connected_gene': 'MOXD1', 'score': 0.21}]
chr6 GH06I132487 132487596 132488869 0.54 [{'connected_gene': 'STX7', 'score': 12.83}, {'connected_gene': 'MOXD1', 'score': 11.1}]
chr6 GH06I132736 132736200 132736532 0.91 [{'connected_gene': 'VNN3', 'score': 573.65}, {'connected_gene': 'VNN2', 'score': 4.28}, {'connected_gene': 'VNN1', 'score': 3.78}, {'connected_gene': 'STX7', 'score': 1.66}, {'connected_gene': 'ENSG00000234484', 'score': 0.37}]
chr6 GH06I132493 132493608 132501188 1.2 [{'connected_gene': 'MOXD1', 'score': 11.08}, {'connected_gene': 'STX7', 'score': 9.48}, {'connected_gene': 'ENPP1', 'score': 4.35}]
chr6 GH06I132444 132444446 132446790 0.52 [{'connected_gene': 'MOXD1', 'score': 11.76}, {'connected_gene': 'STX7', 'score': 8.07}]
chr6 GH06I132390 132390724 132394117 0.69 [{'connected_gene': 'MOXD1', 'score': 6.77}, {'connected_gene': 'STX7', 'score': 4.49}, {'connected_gene': 'PIR45153', 'score': 0.28}]