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
ENST00000319416	[[178482211, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178491459, 178491784]]	[[178482323, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178491459, 178491575]]
ENST00000258298	[[178482211, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178494505, 178494603], [178499255, 178499312], [178500666, 178500693]]	[[178485761, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178494505, 178494603], [178499255, 178499312], [178500666, 178500693]]
ENST00000367643	[[178482246, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178490806, 178490945]]	[[178482323, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178490806, 178490859]]
ENST00000367642	[[178482252, 178482362], [178483161, 178483320], [178483834, 178483885], [178489651, 178491783]]	[[178482323, 178482362], [178483161, 178483320], [178483834, 178483885], [178489651, 178489702]]
ENST00000367641	[[178482264, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178491784]]	[[178482323, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490072]]
ENST00000419909	[[178482267, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485727, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178494505, 178494603], [178499255, 178499312], [178500666, 178500914], [178502091, 178502206], [178502859, 178503020], [178511021, 178511113], [178516228, 178516298], [178517410, 178517734]]	[[178482323, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485727, 178485778]]
ENST00000367639	[[178482278, 178482386], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178492436, 178492566]]	[[178482323, 178482386], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178492436, 178492474]]
ENST00000442872	[[178489963, 178490009], [178490356, 178490399], [178490692, 178490947]]	[[178489963, 178490009], [178490356, 178490399], [178490692, 178490756]]
NM_001170723	[[178482211, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178490806, 178490947]]	[[178482323, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178490806, 178490859]]
NM_032126	[[178482211, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178491459, 178491789]]	[[178482323, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178491459, 178491575]]
NM_001170724	[[178482211, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178492436, 178492635]]	[[178482323, 178482362], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178492436, 178492474]]
NM_001170722	[[178482211, 178482386], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178492436, 178492635]]	[[178482323, 178482386], [178483161, 178483212], [178483834, 178483903], [178484993, 178485050], [178485749, 178485809], [178489506, 178489571], [178489807, 178490009], [178490356, 178490399], [178492436, 178492474]]

Promoter

Chrom	Start	End	Description
chr1	178482241	178482255	CAGE_peak_1_at_C1orf49_5end
chr1	178482262	178482267	CAGE_peak_2_at_C1orf49_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I178588	178588104	178589809	0.38	[{'connected_gene': 'TEX35', 'score': 7.95}, {'connected_gene': 'RALGPS2', 'score': 7.83}, {'connected_gene': 'C1orf220', 'score': 6.56}, {'connected_gene': 'LOC105371632', 'score': 0.44}, {'connected_gene': 'GC01P178598', 'score': 0.44}]
chr1	GH01I178618	178618313	178620652	0.43	[{'connected_gene': 'TEX35', 'score': 11.93}, {'connected_gene': 'RALGPS2', 'score': 8.81}, {'connected_gene': 'CLEC20A', 'score': 5.37}, {'connected_gene': 'C1orf220', 'score': 4.83}, {'connected_gene': 'GC01P178598', 'score': 0.34}, {'connected_gene': 'GC01M178650', 'score': 0.29}]
chr1	GH01I178628	178628406	178631001	0.97	[{'connected_gene': 'TEX35', 'score': 12.37}, {'connected_gene': 'RALGPS2', 'score': 8.88}, {'connected_gene': 'GC01M178650', 'score': 0.34}, {'connected_gene': 'GC01P178598', 'score': 0.29}]
chr1	GH01I178560	178560209	178569337	0.74	[{'connected_gene': 'TEX35', 'score': 14.69}, {'connected_gene': 'C1orf220', 'score': 11.82}, {'connected_gene': 'ENSG00000201791', 'score': 11.02}, {'connected_gene': 'CLEC20A', 'score': 5.34}, {'connected_gene': 'RALGPS2', 'score': 4.99}, {'connected_gene': 'CRYZL2P', 'score': 3.94}, {'connected_gene': 'RNA5SP69', 'score': 0.77}, {'connected_gene': 'GC01P178561', 'score': 0.77}, {'connected_gene': 'GC01P178569', 'score': 0.77}, {'connected_gene': 'LOC105371632', 'score': 0.37}]
chr1	GH01I178592	178592874	178595307	0.2	[{'connected_gene': 'TEX35', 'score': 14.01}, {'connected_gene': 'C1orf220', 'score': 8.18}, {'connected_gene': 'GC01P178598', 'score': 0.77}, {'connected_gene': 'LOC105371632', 'score': 0.39}]
chr1	GH01I178536	178536310	178539614	1.05	[{'connected_gene': 'TEX35', 'score': 14.14}, {'connected_gene': 'C1orf220', 'score': 5.51}, {'connected_gene': 'GC01M178539', 'score': 0.77}, {'connected_gene': 'LOC105371631', 'score': 0.44}]
chr1	GH01I178549	178549280	178553745	0.77	[{'connected_gene': 'TEX35', 'score': 14.73}, {'connected_gene': 'CLEC20A', 'score': 9.95}, {'connected_gene': 'FAM20B', 'score': 9.92}, {'connected_gene': 'RALGPS2', 'score': 4.79}, {'connected_gene': 'GC01P178561', 'score': 0.44}, {'connected_gene': 'C1orf220', 'score': 0.44}]
chr1	GH01I178530	178529646	178530846	1.12	[{'connected_gene': 'TEX35', 'score': 14.9}, {'connected_gene': 'ENSG00000201791', 'score': 10.57}, {'connected_gene': 'LOC105371631', 'score': 0.77}]
chr1	GH01I178513	178513060	178513119	0.5	[{'connected_gene': 'TEX35', 'score': 550.77}, {'connected_gene': 'LOC101928866', 'score': 550.77}, {'connected_gene': 'LOC105371631', 'score': 0.37}]
chr1	GH01I178603	178603752	178614733	1.46	[{'connected_gene': 'RALGPS2', 'score': 25.34}, {'connected_gene': 'TEX35', 'score': 14.63}, {'connected_gene': 'C1orf220', 'score': 11.47}, {'connected_gene': 'TOR3A', 'score': 5.53}, {'connected_gene': 'GC01P178598', 'score': 0.39}, {'connected_gene': 'GC01M178650', 'score': 0.26}]
chr1	GH01I178540	178540203	178545793	1.94	[{'connected_gene': 'C1orf220', 'score': 556.56}, {'connected_gene': 'GC01M178539', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 16.43}, {'connected_gene': 'RALGPS2', 'score': 4.96}, {'connected_gene': 'GC01P178561', 'score': 0.37}]
chr1	GH01I178580	178580643	178582331	1.05	[{'connected_gene': 'LOC105371632', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 14.66}, {'connected_gene': 'C1orf220', 'score': 11.43}, {'connected_gene': 'RALGPS2', 'score': 10.08}, {'connected_gene': 'GC01P178598', 'score': 0.37}]
chr1	GH01I178532	178532001	178532800	0.98	[{'connected_gene': 'LOC105371631', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 0.37}]
chr1	GH01I178598	178598429	178600778	0.38	[{'connected_gene': 'GC01P178598', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 15.62}, {'connected_gene': 'C1orf220', 'score': 15.26}, {'connected_gene': 'RALGPS2', 'score': 5.06}, {'connected_gene': 'GC01M178650', 'score': 0.23}]
chr1	GH01I178574	178574392	178574857	0.74	[{'connected_gene': 'GC01M178575', 'score': 550.77}, {'connected_gene': 'TEX35', 'score': 14.67}, {'connected_gene': 'C1orf220', 'score': 11.77}, {'connected_gene': 'ENSG00000201791', 'score': 11.03}, {'connected_gene': 'LOC105371632', 'score': 0.44}, {'connected_gene': 'GC01P178569', 'score': 0.44}]
chr1	GH01I178575	178575332	178576675	0.94	[{'connected_gene': 'GC01M178575', 'score': 550.77}, {'connected_gene': 'C1orf220', 'score': 18.11}, {'connected_gene': 'TEX35', 'score': 14.11}, {'connected_gene': 'ENSG00000201791', 'score': 11.03}, {'connected_gene': 'LOC105371632', 'score': 0.77}, {'connected_gene': 'GC01P178569', 'score': 0.44}]
chr1	GH01I178529	178529486	178529635	0.74	[{'connected_gene': 'ENSG00000201791', 'score': 10.57}, {'connected_gene': 'LOC105371631', 'score': 0.77}, {'connected_gene': 'TEX35', 'score': 0.37}]