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
ENST00000260803 [[137879853, 137881424], [137882190, 137882336], [137882619, 137882700], [137885922, 137886147], [137888948, 137889034], [137890474, 137890555], [137892343, 137892468], [137893440, 137893791]] [[137880730, 137881424], [137882190, 137882336], [137882619, 137882700], [137885922, 137886147], [137888948, 137889034], [137890474, 137890555], [137892343, 137892468], [137893440, 137893637]]
ENST00000505015 [[137880214, 137881424], [137882190, 137882336], [137882619, 137882700], [137885922, 137886147], [137888948, 137889034], [137890474, 137890555], [137892343, 137892468], [137893440, 137893514], [137893566, 137893727]] [[137880730, 137881424], [137882190, 137882336], [137882619, 137882700], [137885922, 137885934]]
ENST00000477557 [[137882190, 137882336], [137882619, 137882700], [137885922, 137886147], [137892343, 137892468], [137893440, 137893701]] [[137886112, 137886147], [137892343, 137892468], [137893440, 137893637]]
ENST00000460271 [[137882190, 137882336], [137882619, 137883045]] None
ENST00000463982 [[137890161, 137890310], [137890474, 137890555], [137892343, 137892468], [137893440, 137893708]] None
NM_016216 [[137879829, 137881424], [137882190, 137882336], [137882619, 137882700], [137885922, 137886147], [137888948, 137889034], [137890474, 137890555], [137892343, 137892468], [137893440, 137893791]] [[137880730, 137881424], [137882190, 137882336], [137882619, 137882700], [137885922, 137886147], [137888948, 137889034], [137890474, 137890555], [137892343, 137892468], [137893440, 137893637]]
Promoter
Chrom Start End Description
chr3 137893698 137893710 CAGE_peak_2_at_DBR1_5end
chr3 137893721 137893795 CAGE_peak_1_at_DBR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I138607 138607911 138610418 1.98 [{'connected_gene': 'FAIM', 'score': 568.34}, {'connected_gene': 'DBR1', 'score': 13.56}, {'connected_gene': 'DZIP1L', 'score': 10.32}, {'connected_gene': 'PPIAP72', 'score': 0.28}]
chr3 GH03I138767 138767150 138768613 0.76 [{'connected_gene': 'PIK3CB', 'score': 12.47}, {'connected_gene': 'DBR1', 'score': 11.47}, {'connected_gene': 'FAIM', 'score': 10.81}, {'connected_gene': 'CEP70', 'score': 10.68}, {'connected_gene': 'DZIP1L', 'score': 10.21}, {'connected_gene': 'ACTG1P1', 'score': 9.79}, {'connected_gene': 'COPB2', 'score': 9.65}, {'connected_gene': 'GAPDHP39', 'score': 0.44}, {'connected_gene': 'GC03P138644', 'score': 0.13}]
chr3 GH03I138860 138860777 138864579 1.73 [{'connected_gene': 'DBR1', 'score': 10.5}, {'connected_gene': 'COPB2', 'score': 10.28}, {'connected_gene': 'PIK3CB', 'score': 8.62}, {'connected_gene': 'FAIM', 'score': 8.15}, {'connected_gene': 'A4GNT', 'score': 4.47}, {'connected_gene': 'MRPS22', 'score': 2.34}, {'connected_gene': 'ATP5MC1P3', 'score': 0.31}]
chr3 GH03I138173 138173625 138175508 2.02 [{'connected_gene': 'DBR1', 'score': 569.05}, {'connected_gene': 'A4GNT', 'score': 38.45}]
chr3 GH03I138172 138172801 138173000 0.2 [{'connected_gene': 'DBR1', 'score': 0.77}, {'connected_gene': 'A4GNT', 'score': 0.26}]
chr3 GH03I138875 138875120 138877828 1.63 [{'connected_gene': 'DBR1', 'score': 18.48}, {'connected_gene': 'DZIP1L', 'score': 17.1}, {'connected_gene': 'ENSG00000272656', 'score': 11.16}, {'connected_gene': 'FAIM', 'score': 8.17}, {'connected_gene': 'ATP5MC1P3', 'score': 0.39}, {'connected_gene': 'PIK3CB', 'score': 0.26}]
chr3 GH03I138132 138132380 138132439 0.5 [{'connected_gene': 'A4GNT', 'score': 550.77}, {'connected_gene': 'DBR1', 'score': 0.26}]
chr3 GH03I138135 138135001 138137600 0.31 [{'connected_gene': 'A4GNT', 'score': 50.89}, {'connected_gene': 'DBR1', 'score': 7.1}]
chr3 GH03I138942 138942217 138948361 1.83 [{'connected_gene': 'FOXL2NB', 'score': 550.77}, {'connected_gene': 'LINC01391', 'score': 550.77}, {'connected_gene': 'FOXL2', 'score': 550.77}, {'connected_gene': 'DBR1', 'score': 28.08}, {'connected_gene': 'DZIP1L', 'score': 25.48}, {'connected_gene': 'ENSG00000272656', 'score': 11.16}, {'connected_gene': 'CEP70', 'score': 10.28}, {'connected_gene': 'ACTG1P1', 'score': 9.79}, {'connected_gene': 'COPB2', 'score': 9.67}, {'connected_gene': 'MRAS', 'score': 6.41}]
chr3 GH03I138281 138281444 138282854 0.38 [{'connected_gene': 'NME9', 'score': 11.78}, {'connected_gene': 'DBR1', 'score': 11.36}, {'connected_gene': 'DZIP1L', 'score': 10.47}, {'connected_gene': 'GC03P138286', 'score': 0.77}, {'connected_gene': 'ARMC8', 'score': 0.16}]
chr3 GH03I138221 138221801 138223000 0.51 [{'connected_gene': 'ARMC8', 'score': 12.3}, {'connected_gene': 'DBR1', 'score': 12.14}, {'connected_gene': 'MRAS', 'score': 10.32}, {'connected_gene': 'NME9', 'score': 10.3}, {'connected_gene': 'DZIP1L', 'score': 9.58}, {'connected_gene': 'GC03P138286', 'score': 0.21}]
chr3 GH03I138219 138219385 138219553 0.37 [{'connected_gene': 'ARMC8', 'score': 13.62}, {'connected_gene': 'DBR1', 'score': 12.16}, {'connected_gene': 'DZIP1L', 'score': 9.58}, {'connected_gene': 'GC03P138286', 'score': 0.2}]
chr3 GH03I138373 138373873 138379083 0.79 [{'connected_gene': 'MRAS', 'score': 40.01}, {'connected_gene': 'DBR1', 'score': 39.98}, {'connected_gene': 'DZIP1L', 'score': 29.25}, {'connected_gene': 'ENSG00000272656', 'score': 21.49}, {'connected_gene': 'NME9', 'score': 5.12}, {'connected_gene': 'GC03M138344', 'score': 0.31}, {'connected_gene': 'GC03P138407', 'score': 0.29}]