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
ENST00000374692 [[108456824, 108457053], [108467877, 108468034], [108483817, 108484002], [108484814, 108484902], [108510353, 108510471], [108536145, 108538893]] [[108456941, 108457053], [108467877, 108468034], [108483817, 108484002], [108484814, 108484902], [108510353, 108510471], [108536145, 108536361]]
ENST00000374688 [[108463264, 108463924], [108467877, 108468034], [108483817, 108484002], [108484814, 108484902], [108510353, 108510471], [108536145, 108538893]] [[108467927, 108468034], [108483817, 108484002], [108484814, 108484902], [108510353, 108510471], [108536145, 108536361]]
ENST00000435034 [[108467955, 108468034], [108483817, 108484002], [108484814, 108484902], [108510353, 108510471], [108511356, 108511392], [108536145, 108536360]] [[108467955, 108468034], [108483817, 108484002], [108484814, 108484902], [108510353, 108510471], [108511356, 108511374]]
ENST00000434214 [[108456824, 108457053], [108464987, 108465103], [108467877, 108468034]] [[108467927, 108468034]]
ENST00000451560 [[108483967, 108484002], [108484814, 108484902], [108510353, 108510471], [108511353, 108511563]] [[108483967, 108484002], [108484814, 108484902], [108510353, 108510471], [108511353, 108511356]]
NM_018112 [[108456805, 108457053], [108467877, 108468034], [108483817, 108484002], [108484814, 108484902], [108510353, 108510471], [108536145, 108538892]] [[108456941, 108457053], [108467877, 108468034], [108483817, 108484002], [108484814, 108484902], [108510353, 108510471], [108536145, 108536361]]
Promoter
Chrom Start End Description
chr9 108456622 108456659 CAGE_peak_4_at_TMEM38B_5end
chr9 108456800 108456849 CAGE_peak_1_at_TMEM38B_5end
chr9 108456850 108456882 CAGE_peak_2_at_TMEM38B_5end
chr9 108456891 108456909 CAGE_peak_3_at_TMEM38B_5end
chr9 108463234 108463245 CAGE_peak_7_at_TMEM38B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I105504 105504022 105504146 0.68 [{'connected_gene': 'FSD1L', 'score': 12.35}, {'connected_gene': 'TMEM38B', 'score': 3.97}, {'connected_gene': 'RALGAPA1P1', 'score': 0.37}]
chr9 GH09I105509 105509600 105510666 0.81 [{'connected_gene': 'FSD1L', 'score': 10.89}, {'connected_gene': 'TMEM38B', 'score': 3.05}, {'connected_gene': 'RALGAPA1P1', 'score': 0.44}]
chr9 GH09I105437 105437780 105440301 0.74 [{'connected_gene': 'TMEM38B', 'score': 4.27}, {'connected_gene': 'FSD1L', 'score': 0.77}, {'connected_gene': 'SLC44A1', 'score': 0.08}]
chr9 GH09I105683 105683464 105684647 0.2 [{'connected_gene': 'TMEM38B', 'score': 18.84}, {'connected_gene': 'TAL2', 'score': 12.08}]
chr9 GH09I105673 105673000 105673149 0.73 [{'connected_gene': 'TMEM38B', 'score': 12.19}, {'connected_gene': 'TAL2', 'score': 0.39}]
chr9 GH09I105681 105681860 105681949 0.82 [{'connected_gene': 'TMEM38B', 'score': 7.13}, {'connected_gene': 'TAL2', 'score': 0.37}]
chr9 GH09I105317 105317169 105321050 1 [{'connected_gene': 'TMEM38B', 'score': 4.54}, {'connected_gene': 'SLC44A1', 'score': 0.19}, {'connected_gene': 'FSD1L', 'score': 0.13}]
chr9 GH09I105646 105646692 105648349 0.93 [{'connected_gene': 'TMEM38B', 'score': 11.1}, {'connected_gene': 'FKTN', 'score': 6.64}, {'connected_gene': 'FSD1L', 'score': 4.54}, {'connected_gene': 'ENSG00000279609', 'score': 0.44}, {'connected_gene': 'GC09M105565', 'score': 0.18}]
chr9 GH09I105973 105972715 105978020 0.52 [{'connected_gene': 'TMEM38B', 'score': 4.65}, {'connected_gene': 'LOC105376201', 'score': 0.2}, {'connected_gene': 'SLC25A6P5', 'score': 0.13}]
chr9 GH09I105969 105969306 105970368 0.38 [{'connected_gene': 'TMEM38B', 'score': 4.17}, {'connected_gene': 'LOC105376201', 'score': 0.19}, {'connected_gene': 'SLC25A6P5', 'score': 0.13}]
chr9 GH09I105693 105693500 105696001 1.96 [{'connected_gene': 'TMEM38B', 'score': 574.1}, {'connected_gene': 'LOC100421293', 'score': 0.37}]
chr9 GH09I105708 105708620 105708769 0.2 [{'connected_gene': 'TMEM38B', 'score': 6.01}, {'connected_gene': 'LOC100421293', 'score': 0.77}]
chr9 GH09I105700 105700245 105702041 0.59 [{'connected_gene': 'TMEM38B', 'score': 23.88}, {'connected_gene': 'LOC100421293', 'score': 0.44}]
chr9 GH09I105909 105909916 105915608 1.34 [{'connected_gene': 'TMEM38B', 'score': 5.13}, {'connected_gene': 'SLC25A6P5', 'score': 0.21}, {'connected_gene': 'LOC105376201', 'score': 0.13}]
chr9 GH09I105836 105836964 105837817 0.2 [{'connected_gene': 'TMEM38B', 'score': 7.11}, {'connected_gene': 'SLC25A6P5', 'score': 0.39}, {'connected_gene': 'GC09P105768', 'score': 0.2}]
chr9 GH09I105289 105289805 105293585 1.58 [{'connected_gene': 'SLC44A1', 'score': 18.62}, {'connected_gene': 'ABCA1', 'score': 9.11}, {'connected_gene': 'TMEM38B', 'score': 4.14}, {'connected_gene': 'FSD1L', 'score': 1.38}]
chr9 GH09I105293 105293920 105300930 1.55 [{'connected_gene': 'SLC44A1', 'score': 18.07}, {'connected_gene': 'ABCA1', 'score': 13.29}, {'connected_gene': 'TMEM38B', 'score': 6.85}, {'connected_gene': 'FSD1L', 'score': 1.84}]
chr9 GH09I105280 105280107 105282564 0.93 [{'connected_gene': 'ABCA1', 'score': 8.46}, {'connected_gene': 'SLC44A1', 'score': 6.33}, {'connected_gene': 'TMEM38B', 'score': 3.74}, {'connected_gene': 'FSD1L', 'score': 1.44}]
chr9 GH09I105711 105711820 105712210 0.34 [{'connected_gene': 'LOC100421293', 'score': 550.77}, {'connected_gene': 'TMEM38B', 'score': 20.23}, {'connected_gene': 'GC09P105744', 'score': 0.29}]