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
ENST00000490675 [[50378540, 50378916], [50379004, 50379130], [50379240, 50379362], [50379827, 50379879]] None
ENST00000231749 [[50378540, 50378916], [50379004, 50379130], [50379240, 50379362], [50379445, 50379571], [50379827, 50380000], [50380348, 50380449], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382663], [50382918, 50384283]] [[50378840, 50378916], [50379004, 50379130], [50379240, 50379362], [50379445, 50379571], [50379827, 50380000], [50380348, 50380449], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382663], [50382918, 50383010]]
ENST00000360165 [[50378544, 50378916], [50379004, 50379130], [50379240, 50379362], [50379445, 50379571], [50379827, 50380086], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382663], [50382918, 50383163]] [[50378840, 50378916], [50379004, 50379130], [50379240, 50379362], [50379445, 50379571], [50379827, 50380086], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382663], [50382918, 50383010]]
ENST00000475688 [[50378545, 50378916], [50379004, 50379130], [50379240, 50379362], [50379445, 50380599]] None
ENST00000442887 [[50379467, 50379571], [50379827, 50380000], [50380348, 50380449], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382663], [50382965, 50383152]] [[50379467, 50379571], [50379827, 50380000], [50380348, 50380449], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382626]]
ENST00000443080 [[50379952, 50380000], [50380348, 50380449], [50380548, 50380637], [50380993, 50381047], [50381164, 50381281], [50382554, 50382667], [50382918, 50383103]] [[50382645, 50382667], [50382918, 50383010]]
ENST00000478269 [[50380599, 50380875], [50380993, 50381047], [50381164, 50381467]] None
ENST00000431869 [[50380831, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382667], [50382918, 50383152]] [[50382645, 50382667], [50382918, 50383010]]
ENST00000468182 [[50382269, 50382389], [50382554, 50382663], [50382918, 50383112]] None
NM_015896 [[50378536, 50378916], [50379004, 50379130], [50379240, 50379362], [50379445, 50379571], [50379827, 50380000], [50380348, 50380449], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382663], [50382918, 50383177]] [[50378840, 50378916], [50379004, 50379130], [50379240, 50379362], [50379445, 50379571], [50379827, 50380000], [50380348, 50380449], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382663], [50382918, 50383010]]
NM_001308379 [[50378536, 50378916], [50379004, 50379130], [50379240, 50379362], [50379445, 50379571], [50379827, 50380086], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382663], [50382918, 50383177]] [[50378840, 50378916], [50379004, 50379130], [50379240, 50379362], [50379445, 50379571], [50379827, 50380086], [50380548, 50380637], [50380737, 50380875], [50380993, 50381047], [50381164, 50381281], [50382554, 50382663], [50382918, 50383010]]
Promoter
Chrom Start End Description
chr3 50383076 50383081 CAGE_peak_2_at_ZMYND10_5end
chr3 50383096 50383168 CAGE_peak_1_at_ZMYND10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I050346 50346850 50347918 0.92 [{'connected_gene': 'ZMYND10', 'score': 550.77}, {'connected_gene': 'HYAL1', 'score': 7.07}, {'connected_gene': 'NPRL2', 'score': 0.77}, {'connected_gene': 'CYB561D2', 'score': 0.77}]
chr3 GH03I050345 50345170 50346400 1.34 [{'connected_gene': 'ZMYND10', 'score': 550.77}, {'connected_gene': 'ZMYND10-AS1', 'score': 0.77}]
chr3 GH03I050332 50332973 50342370 2.48 [{'connected_gene': 'RASSF1', 'score': 562.92}, {'connected_gene': 'RASSF1-AS1', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 39.23}, {'connected_gene': 'CYB561D2', 'score': 21.55}, {'connected_gene': 'RBM6', 'score': 17.0}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.76}, {'connected_gene': 'NICN1', 'score': 14.15}, {'connected_gene': 'RBM5', 'score': 13.8}, {'connected_gene': 'RHOA-IT1', 'score': 13.55}, {'connected_gene': 'TMEM115', 'score': 13.19}, {'connected_gene': 'IFRD2', 'score': 10.98}, {'connected_gene': 'LSMEM2', 'score': 10.94}, {'connected_gene': 'HEMK1', 'score': 9.72}, {'connected_gene': 'HYAL1', 'score': 8.59}, {'connected_gene': 'SEMA3F', 'score': 4.45}, {'connected_gene': 'ENSG00000230454', 'score': 3.99}, {'connected_gene': 'SEMA3B', 'score': 2.05}, {'connected_gene': 'GC03P050334', 'score': 0.77}, {'connected_gene': 'ZMYND10-AS1', 'score': 0.77}, {'connected_gene': 'ZMYND10', 'score': 0.44}]
chr3 GH03I050453 50453991 50454160 0.24 [{'connected_gene': 'LOC105377082', 'score': 550.77}, {'connected_gene': 'ZMYND10', 'score': 39.29}, {'connected_gene': 'C3orf18', 'score': 29.58}, {'connected_gene': 'GNAI2', 'score': 7.21}, {'connected_gene': 'HYAL3', 'score': 2.51}, {'connected_gene': 'NAT6', 'score': 2.48}, {'connected_gene': 'RNA5SP131', 'score': 0.29}, {'connected_gene': 'CACNA2D2', 'score': 0.23}]
chr3 GH03I049872 49872028 49874434 1.02 [{'connected_gene': 'RBM6', 'score': 42.74}, {'connected_gene': 'ZMYND10', 'score': 11.19}, {'connected_gene': 'GNAI2', 'score': 2.89}, {'connected_gene': 'HYAL3', 'score': 1.61}, {'connected_gene': 'NAT6', 'score': 1.6}, {'connected_gene': 'ACTBP13', 'score': 0.77}, {'connected_gene': 'CAMKV', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I050342 50342410 50342740 0.4 [{'connected_gene': 'ZMYND10-AS1', 'score': 550.77}, {'connected_gene': 'RASSF1', 'score': 550.77}, {'connected_gene': 'ZMYND10', 'score': 0.77}]