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
ENST00000329886 [[105956191, 105956322], [105957317, 105957469], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105963693, 105963780], [105964134, 105964314], [105964953, 105965912]] [[105957439, 105957469], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105963693, 105963780], [105964134, 105964314], [105964953, 105965283]]
ENST00000427614 [[105956199, 105956380], [105957317, 105957463], [105957958, 105958037], [105958443, 105958580]] [[105957439, 105957463], [105957958, 105958037], [105958443, 105958580]]
ENST00000455454 [[105956212, 105956322], [105957317, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963780]] [[105957439, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963780]]
ENST00000432805 [[105956460, 105956574], [105957317, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963780], [105964134, 105964314], [105964953, 105965033]] [[105957439, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963780], [105964134, 105964314], [105964953, 105965033]]
ENST00000551054 [[105956519, 105956574], [105957317, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105963693, 105963780], [105964134, 105964314], [105964953, 105965121]] None
ENST00000392527 [[105956519, 105956574], [105957317, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105963693, 105963780], [105964134, 105964314], [105964953, 105965523]] [[105957439, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105963693, 105963780], [105964134, 105964314], [105964953, 105965283]]
ENST00000443229 [[105956632, 105957145], [105957317, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105958940]] [[105957439, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105958940]]
ENST00000421892 [[105957401, 105957491], [105957958, 105958037], [105958484, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963780], [105964134, 105964212]] [[105958595, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963780], [105964134, 105964212]]
ENST00000334656 [[105957439, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105963693, 105963780], [105964134, 105964314], [105964953, 105965551]] [[105957439, 105957463], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105963693, 105963780], [105964134, 105964314], [105964953, 105965283]]
ENST00000451719 [[105957570, 105957697], [105957958, 105958037], [105958443, 105958646], [105958915, 105959028]] [[105958595, 105958646], [105958915, 105959028]]
ENST00000392522 [[105957585, 105957859], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963780], [105964134, 105964314], [105964953, 105965505]] [[105957712, 105957859], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963780], [105964134, 105964314], [105964953, 105965283]]
ENST00000392523 [[105957591, 105957859], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105960171, 105960270], [105962216, 105962423], [105963693, 105963780], [105964134, 105964314], [105964953, 105965519]] [[105957712, 105957859], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105960171, 105960270], [105962216, 105962423], [105963693, 105963780], [105964134, 105964314], [105964953, 105965283]]
ENST00000460959 [[105957598, 105958037], [105958443, 105958646], [105958915, 105959054]] None
ENST00000354560 [[105957604, 105957859], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105963693, 105963780], [105964134, 105964314], [105964953, 105965546]] [[105957712, 105957859], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105963693, 105963780], [105964134, 105964314], [105964953, 105965283]]
ENST00000546536 [[105957608, 105957859], [105957958, 105958037], [105958443, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963994]] None
ENST00000463869 [[105957662, 105958037], [105958484, 105958646], [105958915, 105959071], [105960171, 105960270], [105963693, 105963750]] None
ENST00000548920 [[105957703, 105957859], [105957958, 105958021], [105958485, 105958646], [105960171, 105960270], [105963693, 105963780], [105964134, 105964314], [105964953, 105965565]] [[105957712, 105957859], [105957958, 105958021], [105958485, 105958635]]
ENST00000450383 [[105957730, 105957859], [105957958, 105958037], [105958443, 105958646], [105960171, 105960270], [105963693, 105963780], [105964134, 105964314], [105964953, 105965283]] [[105958595, 105958646], [105960171, 105960270], [105963693, 105963780], [105964134, 105964314], [105964953, 105965283]]
ENST00000551538 [[105960490, 105964314], [105964953, 105965566]] None
ENST00000546492 [[105963962, 105964314], [105964953, 105965566]] None
Promoter
Chrom Start End Description
chr14 105957563 105957663 CAGE_peak_1_at_C14orf80_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I105511 105511664 105511833 0.84 [{'connected_gene': 'MTA1', 'score': 15.58}, {'connected_gene': 'ENSG00000257270', 'score': 13.09}, {'connected_gene': 'ENSG00000258811', 'score': 10.29}, {'connected_gene': 'LINC02298', 'score': 9.88}, {'connected_gene': 'TMEM121', 'score': 0.39}, {'connected_gene': 'TEDC1', 'score': 0.34}]
chr14 GH14I105497 105497476 105500173 1.05 [{'connected_gene': 'TMEM121', 'score': 13.88}, {'connected_gene': 'IGHV3-15', 'score': 4.69}, {'connected_gene': 'TEDC1', 'score': 0.44}]
chr14 GH14I105058 105058161 105068209 2.38 [{'connected_gene': 'GPR132', 'score': 571.89}, {'connected_gene': 'AHNAK2', 'score': 12.35}, {'connected_gene': 'CDCA4', 'score': 11.61}, {'connected_gene': 'JAG2', 'score': 10.94}, {'connected_gene': 'NUDT14', 'score': 10.93}, {'connected_gene': 'CLBA1', 'score': 6.94}, {'connected_gene': 'TEDC1', 'score': 1.84}, {'connected_gene': 'PLD4', 'score': 1.72}, {'connected_gene': 'BRF1', 'score': 1.59}, {'connected_gene': 'GC14P105040', 'score': 0.34}]
chr14 GH14I105292 105292366 105295248 1.38 [{'connected_gene': 'BRF1', 'score': 18.21}, {'connected_gene': 'BTBD6', 'score': 13.3}, {'connected_gene': 'TEDC1', 'score': 11.01}, {'connected_gene': 'GPR132', 'score': 1.21}, {'connected_gene': 'PACS2', 'score': 0.44}, {'connected_gene': 'GC14P105252', 'score': 0.26}]
chr14 GH14I105479 105479424 105492583 2.33 [{'connected_gene': 'CRIP1', 'score': 550.77}, {'connected_gene': 'TEDC1', 'score': 550.77}, {'connected_gene': 'ENSG00000257341', 'score': 550.77}, {'connected_gene': 'MTA1', 'score': 51.04}, {'connected_gene': 'ENSG00000257270', 'score': 15.42}, {'connected_gene': 'CDCA4', 'score': 12.98}, {'connected_gene': 'GPR132', 'score': 11.05}, {'connected_gene': 'ENSG00000258811', 'score': 10.29}, {'connected_gene': 'LINC02298', 'score': 9.88}, {'connected_gene': 'TMEM121', 'score': 7.66}, {'connected_gene': 'CLBA1', 'score': 4.61}, {'connected_gene': 'CRIP2', 'score': 0.39}]