PsyMuKB

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
ENST00000591295	[[42269172, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272526], [42272786, 42272855], [42273167, 42273196], [42273401, 42273421]]	[[42271630, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272526], [42272786, 42272855], [42273167, 42273196], [42273401, 42273421]]
ENST00000454077	[[42269172, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273468], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275438]]	[[42271630, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273468], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275438]]
ENST00000389384	[[42269172, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273447], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275747]]	[[42271630, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273447], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275438]]
ENST00000593073	[[42271607, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272810], [42277424, 42277481]]	None
ENST00000586688	[[42271738, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272661]]	None
ENST00000587097	[[42271750, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273447], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275498], [42276863, 42277220]]	[[42271750, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273447], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275438]]
ENST00000590537	[[42271907, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273253], [42273401, 42273534]]	[[42271907, 42272042], [42272135, 42272207], [42272464, 42272475]]
ENST00000589607	[[42272018, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273531]]	None
ENST00000591807	[[42272024, 42272508], [42272786, 42272844]]	None
ENST00000587022	[[42272488, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273581]]	None
ENST00000590169	[[42274308, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275498], [42275788, 42275879]]	[[42274308, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275438]]
ENST00000589805	[[42274331, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275498], [42276431, 42276574]]	[[42274331, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275438]]
NM_020218	[[42269172, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273468], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275529]]	[[42271630, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273468], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275438]]
NM_001098833	[[42269172, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273447], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275529]]	[[42271630, 42271779], [42271884, 42272042], [42272135, 42272207], [42272464, 42272508], [42272786, 42272855], [42273167, 42273196], [42273401, 42273447], [42273763, 42273786], [42274296, 42274394], [42274595, 42274767], [42274965, 42275098], [42275387, 42275438]]

Promoter

Chrom	Start	End	Description
chr17	42277443	42277460	CAGE_peak_2_at_ATXN7L3_5end
chr17	42277471	42277515	CAGE_peak_1_at_ATXN7L3_5end
chr17	42277547	42277558	CAGE_peak_3_at_ATXN7L3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I044197	44197228	44201521	2.58	[{'connected_gene': 'ATXN7L3', 'score': 552.22}, {'connected_gene': 'GC17M044204', 'score': 550.77}, {'connected_gene': 'LOC101926967', 'score': 550.77}, {'connected_gene': 'PIR47424', 'score': 550.77}, {'connected_gene': 'ENSG00000267394', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 13.38}, {'connected_gene': 'ASB16-AS1', 'score': 12.21}, {'connected_gene': 'DCAKD', 'score': 12.02}, {'connected_gene': 'UBTF', 'score': 11.91}, {'connected_gene': 'DHX8', 'score': 11.15}, {'connected_gene': 'TMUB2', 'score': 9.82}, {'connected_gene': 'GRN', 'score': 8.11}, {'connected_gene': 'LINC00854', 'score': 5.06}, {'connected_gene': 'NAGS', 'score': 4.1}, {'connected_gene': 'TMEM101', 'score': 2.13}, {'connected_gene': 'HDAC5', 'score': 2.11}, {'connected_gene': 'G6PC3', 'score': 1.44}]
chr17	GH17I044202	44202484	44203482	0.96	[{'connected_gene': 'SLC25A39', 'score': 12.16}, {'connected_gene': 'ASB16', 'score': 11.49}, {'connected_gene': 'FAM171A2', 'score': 10.5}, {'connected_gene': 'HDAC5', 'score': 10.02}, {'connected_gene': 'ENSG00000221044', 'score': 8.78}, {'connected_gene': 'ATXN7L3', 'score': 0.77}, {'connected_gene': 'LOC101926967', 'score': 0.77}, {'connected_gene': 'MIR6782', 'score': 0.77}, {'connected_gene': 'ENSG00000267394', 'score': 0.77}]
chr17	GH17I044203	44203600	44205305	1.3	[{'connected_gene': 'ASB16-AS1', 'score': 24.67}, {'connected_gene': 'ASB16', 'score': 20.91}, {'connected_gene': 'UBTF', 'score': 15.17}, {'connected_gene': 'LINC00910', 'score': 13.17}, {'connected_gene': 'DHX8', 'score': 12.9}, {'connected_gene': 'TMUB2', 'score': 12.53}, {'connected_gene': 'SLC25A39', 'score': 12.16}, {'connected_gene': 'FAM171A2', 'score': 10.99}, {'connected_gene': 'HDAC5', 'score': 10.02}, {'connected_gene': 'ENSG00000221044', 'score': 9.48}, {'connected_gene': 'NAGS', 'score': 5.23}, {'connected_gene': 'ENSG00000267505', 'score': 4.86}, {'connected_gene': 'ATXN7L3', 'score': 0.77}, {'connected_gene': 'MIR6782', 'score': 0.77}, {'connected_gene': 'LOC101926967', 'score': 0.44}, {'connected_gene': 'ENSG00000267394', 'score': 0.44}]
chr17	GH17I044190	44190376	44194413	0.8	[{'connected_gene': 'GC17M044232', 'score': 550.77}, {'connected_gene': 'PIR58445', 'score': 550.77}, {'connected_gene': 'PIR49601', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 17.81}, {'connected_gene': 'TMEM101', 'score': 6.98}, {'connected_gene': 'NAGS', 'score': 4.24}, {'connected_gene': 'ENSG00000267505', 'score': 4.13}, {'connected_gene': 'PIR53071', 'score': 0.77}, {'connected_gene': 'ATXN7L3', 'score': 0.44}, {'connected_gene': 'TMUB2', 'score': 0.44}]