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
ENST00000296805 [[74017028, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74062762, 74063196]] [[74017479, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059567]]
ENST00000345239 [[74017030, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74062762, 74062946]] [[74017479, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059567]]
ENST00000509430 [[74017082, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74060859, 74060977], [74062762, 74062930]] [[74017479, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059567]]
ENST00000427854 [[74032493, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74062762, 74062971]] [[74032588, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059567]]
ENST00000509097 [[74035910, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74062762, 74062886]] [[74035910, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059567]]
ENST00000506778 [[74047203, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74062762, 74062972]] [[74047203, 74047318], [74054673, 74054752]]
ENST00000515125 [[74017097, 74017608], [74018203, 74018386], [74021765, 74021951], [74028846, 74028923], [74032620, 74032788]] None
ENST00000514734 [[74021496, 74021580], [74021765, 74021951], [74026084, 74026223], [74026426, 74026600], [74028846, 74028923], [74032620, 74032810], [74034142, 74034199]] None
ENST00000506263 [[74026084, 74026223], [74028846, 74029213]] None
ENST00000513331 [[74035813, 74035962], [74037353, 74037673]] None
NM_001281302 [[74017028, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74060859, 74060977], [74062762, 74063196]] [[74017479, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74060859, 74060931]]
NM_032380 [[74017028, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74062762, 74063196]] [[74017479, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059567]]
NR_104006 [[74017028, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74062762, 74063196]] None
NM_170691 [[74017028, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74062762, 74063196]] [[74017479, 74017608], [74018203, 74018386], [74021464, 74021580], [74021765, 74021951], [74026084, 74026223], [74028846, 74028923], [74032620, 74032810], [74034142, 74034242], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059567]]
NM_170681 [[74032168, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059591], [74062762, 74063196]] [[74032588, 74032810], [74034142, 74034242], [74034326, 74034467], [74035813, 74035962], [74037353, 74037434], [74041502, 74041682], [74041929, 74041990], [74043516, 74043605], [74046403, 74046492], [74047192, 74047318], [74054673, 74054771], [74055193, 74055251], [74056726, 74056811], [74059504, 74059567]]
Promoter
Chrom Start End Description
chr5 74062867 74062912 CAGE_peak_2_at_GFM2_5end
chr5 74062915 74062926 CAGE_peak_3_at_GFM2_5end
chr5 74062931 74062980 CAGE_peak_1_at_GFM2_5end
chr5 74063455 74063464 CAGE_peak_4_at_GFM2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I074864 74864472 74870668 1.95 [{'connected_gene': 'FAM169A', 'score': 554.88}, {'connected_gene': 'LOC441086', 'score': 550.77}, {'connected_gene': 'NSA2', 'score': 79.43}, {'connected_gene': 'RPS26P26', 'score': 11.02}, {'connected_gene': 'GFM2', 'score': 4.89}, {'connected_gene': 'GC05M074884', 'score': 0.37}]
chr5 GH05I074724 74724813 74725180 0.25 [{'connected_gene': 'RNU6-658P', 'score': 550.77}, {'connected_gene': 'GC05M074726', 'score': 550.77}, {'connected_gene': 'GFM2', 'score': 0.26}, {'connected_gene': 'ENC1', 'score': 0.18}]
chr5 GH05I073900 73900645 73902040 0.76 [{'connected_gene': 'RNU7-196P', 'score': 10.18}, {'connected_gene': 'GFM2', 'score': 4.93}, {'connected_gene': 'GC05P073917', 'score': 0.37}, {'connected_gene': 'ARHGEF28', 'score': 0.06}]
chr5 GH05I074764 74764568 74768503 2.3 [{'connected_gene': 'NSA2', 'score': 667.68}, {'connected_gene': 'GFM2', 'score': 557.52}, {'connected_gene': 'RPS26P26', 'score': 28.25}, {'connected_gene': 'POLK', 'score': 23.58}, {'connected_gene': 'POC5', 'score': 11.82}, {'connected_gene': 'ENSG00000272040', 'score': 11.22}, {'connected_gene': 'RNU6-658P', 'score': 10.3}, {'connected_gene': 'FAM169A', 'score': 6.87}]
chr5 GH05I074761 74761140 74764436 0.85 [{'connected_gene': 'NSA2', 'score': 95.31}, {'connected_gene': 'RNU6-658P', 'score': 11.19}, {'connected_gene': 'GFM2', 'score': 6.56}, {'connected_gene': 'GC05M074726', 'score': 0.28}]
chr5 GH05I073830 73830577 73831541 0.4 [{'connected_gene': 'LOC102725145', 'score': 10.06}, {'connected_gene': 'GFM2', 'score': 4.5}, {'connected_gene': 'RNU7-196P', 'score': 0.77}, {'connected_gene': 'GC05P073917', 'score': 0.17}, {'connected_gene': 'ARHGEF28', 'score': 0.08}]