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
ENST00000504776 [[98104353, 98104566], [98106301, 98106377], [98109659, 98109910], [98115283, 98115623]] None
ENST00000505265 [[98104997, 98105329], [98106056, 98106170]] None
ENST00000434027 [[98104997, 98105329], [98106056, 98106377], [98109656, 98109910], [98115283, 98116889]] None
ENST00000308234 [[98104998, 98105329], [98106301, 98106377], [98109656, 98109910], [98115283, 98115792], [98128788, 98132198]] [[98106372, 98106377], [98109656, 98109910], [98115283, 98115792], [98128788, 98129457]]
ENST00000507054 [[98105139, 98105329], [98106301, 98106377], [98108645, 98108679]] None
ENST00000513185 [[98109338, 98109910], [98115283, 98115792], [98128788, 98129759]] [[98109774, 98109910], [98115283, 98115792], [98128788, 98129457]]
ENST00000508978 [[98115548, 98115792], [98134164, 98134347]] None
NM_001012761 [[98104998, 98105329], [98106301, 98106377], [98109656, 98109910], [98115283, 98115792], [98128788, 98132198]] [[98106372, 98106377], [98109656, 98109910], [98115283, 98115792], [98128788, 98129457]]
Promoter
Chrom Start End Description
chr5 98104312 98104343 CAGE_peak_13_at_RGMB_5end
chr5 98104978 98105010 CAGE_peak_5_at_RGMB_5end
chr5 98105021 98105033 CAGE_peak_11_at_RGMB_5end
chr5 98105080 98105096 CAGE_peak_9_at_RGMB_5end
chr5 98105123 98105126 CAGE_peak_26_at_RGMB_5end
chr5 98105127 98105145 CAGE_peak_8_at_RGMB_5end
chr5 98105219 98105258 CAGE_peak_6_at_RGMB_5end
chr5 98105268 98105295 CAGE_peak_2_at_RGMB_5end
chr5 98109322 98109350 CAGE_peak_4_at_RGMB_5end
chr5 98109355 98109380 CAGE_peak_1_at_RGMB_5end
chr5 98109395 98109407 CAGE_peak_7_at_RGMB_5end
chr5 98109470 98109495 CAGE_peak_3_at_RGMB_5end
chr5 98109731 98109740 CAGE_peak_19_at_RGMB_5end
chr5 98129974 98129990 CAGE_peak_21_at_RGMB_5end
chr5 98129998 98130012 CAGE_peak_22_at_RGMB_5end
chr5 98130065 98130086 CAGE_peak_10_at_RGMB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I098767 98767391 98777693 2.28 [{'connected_gene': 'RGMB-AS1', 'score': 583.28}, {'connected_gene': 'RGMB', 'score': 555.52}, {'connected_gene': 'CHD1', 'score': 39.65}]
chr5 GH05I098424 98424311 98425933 0.4 [{'connected_gene': 'RGMB-AS1', 'score': 6.19}, {'connected_gene': 'RGMB', 'score': 4.1}, {'connected_gene': 'MTCO1P24', 'score': 0.39}, {'connected_gene': 'CTBP2P4', 'score': 0.1}]
chr5 GH05I098839 98839401 98839999 0.69 [{'connected_gene': 'RGMB-AS1', 'score': 16.47}, {'connected_gene': 'RGMB', 'score': 11.17}, {'connected_gene': 'LOC105379099', 'score': 0.77}, {'connected_gene': 'CSNK1A1P3', 'score': 0.44}]
chr5 GH05I098789 98789240 98790879 0.31 [{'connected_gene': 'RGMB-AS1', 'score': 25.5}, {'connected_gene': 'ENSG00000279232', 'score': 0.44}, {'connected_gene': 'RGMB', 'score': 0.34}]
chr5 GH05I098762 98762503 98764066 0.83 [{'connected_gene': 'RGMB-AS1', 'score': 32.7}, {'connected_gene': 'RGMB', 'score': 4.65}, {'connected_gene': 'PIR40029', 'score': 0.18}]
chr5 GH05I098750 98750817 98750966 0.38 [{'connected_gene': 'RGMB-AS1', 'score': 11.46}, {'connected_gene': 'RGMB', 'score': 0.37}, {'connected_gene': 'PIR40029', 'score': 0.19}]
chr5 GH05I098779 98779057 98780000 1.22 [{'connected_gene': 'RGMB-AS1', 'score': 0.44}, {'connected_gene': 'RGMB', 'score': 0.39}, {'connected_gene': 'ENSG00000279232', 'score': 0.37}]
chr5 GH05I098752 98752123 98753932 0.38 [{'connected_gene': 'RGMB-AS1', 'score': 43.08}, {'connected_gene': 'RGMB', 'score': 4.58}, {'connected_gene': 'PIR40029', 'score': 0.19}]
chr5 GH05I098785 98785087 98785721 0.2 [{'connected_gene': 'RGMB-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000279232', 'score': 0.39}, {'connected_gene': 'RGMB', 'score': 0.37}]
chr5 GH05I098786 98786081 98787989 0.69 [{'connected_gene': 'RGMB-AS1', 'score': 9.67}, {'connected_gene': 'ENSG00000279232', 'score': 0.44}, {'connected_gene': 'RGMB', 'score': 0.37}]
chr5 GH05I098782 98782496 98783594 0.2 [{'connected_gene': 'RGMB-AS1', 'score': 21.61}, {'connected_gene': 'ENSG00000279232', 'score': 0.39}, {'connected_gene': 'RGMB', 'score': 0.39}]
chr5 GH05I098748 98748650 98749573 0.2 [{'connected_gene': 'RGMB-AS1', 'score': 11.46}, {'connected_gene': 'RGMB', 'score': 4.58}, {'connected_gene': 'PIR40029', 'score': 0.2}]
chr5 GH05I099019 99019258 99022562 1.17 [{'connected_gene': 'RGMB-AS1', 'score': 15.87}, {'connected_gene': 'CHD1', 'score': 11.35}, {'connected_gene': 'LINC02062', 'score': 11.35}, {'connected_gene': 'RGMB', 'score': 10.11}, {'connected_gene': 'PIR38453', 'score': 0.39}, {'connected_gene': 'GC05P099011', 'score': 0.39}, {'connected_gene': 'PIR33197', 'score': 0.09}]
chr5 GH05I099032 99032117 99034611 1.07 [{'connected_gene': 'RGMB-AS1', 'score': 15.18}, {'connected_gene': 'CHD1', 'score': 11.34}, {'connected_gene': 'LINC02062', 'score': 11.34}, {'connected_gene': 'RGMB', 'score': 10.15}, {'connected_gene': 'PIR38453', 'score': 0.34}, {'connected_gene': 'GC05P099011', 'score': 0.34}, {'connected_gene': 'PIR33197', 'score': 0.1}]
chr5 GH05I098401 98401110 98402486 0.4 [{'connected_gene': 'MRPS35P2', 'score': 550.77}, {'connected_gene': 'RGMB', 'score': 4.45}, {'connected_gene': 'KRT8P32', 'score': 0.44}]
chr5 GH05I098413 98413350 98417602 0.97 [{'connected_gene': 'RGMB', 'score': 8.31}, {'connected_gene': 'RGMB-AS1', 'score': 6.91}, {'connected_gene': 'MTCO1P24', 'score': 0.77}, {'connected_gene': 'CTBP2P4', 'score': 0.1}]
chr5 GH05I098463 98463840 98465924 0.38 [{'connected_gene': 'RGMB', 'score': 6.34}, {'connected_gene': 'RGMB-AS1', 'score': 4.04}, {'connected_gene': 'MTCO1P24', 'score': 0.23}, {'connected_gene': 'CTBP2P4', 'score': 0.14}]
chr5 GH05I098466 98466344 98469505 0.66 [{'connected_gene': 'RGMB', 'score': 6.18}, {'connected_gene': 'RGMB-AS1', 'score': 4.14}, {'connected_gene': 'MTCO1P24', 'score': 0.22}, {'connected_gene': 'CTBP2P4', 'score': 0.14}]
chr5 GH05I098742 98742777 98742926 0.31 [{'connected_gene': 'RGMB', 'score': 11.17}, {'connected_gene': 'RGMB-AS1', 'score': 10.71}, {'connected_gene': 'PIR40029', 'score': 0.21}]
chr5 GH05I098338 98338559 98342982 0.43 [{'connected_gene': 'RGMB', 'score': 5.8}, {'connected_gene': 'LOC402221', 'score': 0.77}, {'connected_gene': 'KRT8P32', 'score': 0.23}]
chr5 GH05I098459 98459598 98460977 0.2 [{'connected_gene': 'RGMB', 'score': 6.37}, {'connected_gene': 'MTCO1P24', 'score': 0.25}, {'connected_gene': 'CTBP2P4', 'score': 0.13}]
chr5 GH05I098428 98428632 98429439 0.66 [{'connected_gene': 'RGMB', 'score': 5.54}, {'connected_gene': 'MTCO1P24', 'score': 0.37}, {'connected_gene': 'CTBP2P4', 'score': 0.11}]
chr5 GH05I098432 98432436 98433083 0.31 [{'connected_gene': 'RGMB', 'score': 5.22}, {'connected_gene': 'MTCO1P24', 'score': 0.34}, {'connected_gene': 'CTBP2P4', 'score': 0.11}]
chr5 GH05I098453 98453880 98456425 1.19 [{'connected_gene': 'RGMB', 'score': 5.69}, {'connected_gene': 'MTCO1P24', 'score': 0.26}, {'connected_gene': 'CTBP2P4', 'score': 0.13}]
chr5 GH05I098475 98475645 98477589 0.31 [{'connected_gene': 'RGMB', 'score': 6.17}, {'connected_gene': 'MTCO1P24', 'score': 0.21}, {'connected_gene': 'CTBP2P4', 'score': 0.15}]
chr5 GH05I098457 98457992 98458266 0.63 [{'connected_gene': 'RGMB', 'score': 6.18}, {'connected_gene': 'MTCO1P24', 'score': 0.25}, {'connected_gene': 'CTBP2P4', 'score': 0.13}]
chr5 GH05I098755 98755517 98755666 0.63 [{'connected_gene': 'RGMB', 'score': 0.39}, {'connected_gene': 'PIR40029', 'score': 0.18}]
chr5 GH05I098796 98796000 98796935 1.12 [{'connected_gene': 'ENSG00000279232', 'score': 550.77}, {'connected_gene': 'RGMB-AS1', 'score': 12.03}, {'connected_gene': 'RGMB', 'score': 11.71}, {'connected_gene': 'CSNK1A1P3', 'score': 0.28}]
chr5 GH05I098791 98791085 98791877 0.51 [{'connected_gene': 'ENSG00000279232', 'score': 0.77}, {'connected_gene': 'RGMB-AS1', 'score': 0.37}, {'connected_gene': 'RGMB', 'score': 0.34}]
chr5 GH05I098680 98680137 98680286 0.31 [{'connected_gene': 'PIR40029', 'score': 550.77}, {'connected_gene': 'DDX18P4', 'score': 550.77}, {'connected_gene': 'RGMB', 'score': 0.17}]
chr5 GH05I098307 98307214 98316030 1.38 [{'connected_gene': 'GC05M098310', 'score': 550.77}, {'connected_gene': 'RGMB', 'score': 3.21}, {'connected_gene': 'LOC402221', 'score': 0.31}]