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
ENST00000281142	[[129805147, 129805694], [129809833, 129809929], [129812213, 129812292], [129857809, 129858006], [129864150, 129864343], [129867161, 129867307], [129869650, 129869725], [129873923, 129873995], [129878180, 129878279], [129880754, 129880932], [129886381, 129886473], [129891532, 129891623], [129913321, 129913392], [129919028, 129919094], [129920826, 129920949], [129924895, 129925031], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014762]]	[[129805631, 129805694], [129809833, 129809929], [129812213, 129812292], [129857809, 129858006], [129864150, 129864343], [129867161, 129867307], [129869650, 129869725], [129873923, 129873995], [129878180, 129878279], [129880754, 129880932], [129886381, 129886473], [129891532, 129891623], [129913321, 129913392], [129919028, 129919094], [129920826, 129920949], [129924895, 129925031], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014258]]
ENST00000506233	[[129805151, 129805694], [129809833, 129809929], [129812213, 129812292], [129857809, 129858006], [129864150, 129864343], [129867161, 129867307], [129869650, 129869725], [129873923, 129873995], [129878180, 129878279], [129880754, 129880932], [129891532, 129893527]]	None
ENST00000434680	[[129805151, 129805694], [129809833, 129809929], [129812213, 129812292], [129913321, 129913392], [129919028, 129919094], [129920826, 129920949], [129924895, 129925031], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014764]]	[[129805631, 129805694], [129809833, 129809929], [129812213, 129812292], [129913321, 129913392], [129919028, 129919094], [129920826, 129920949], [129924895, 129925031], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014258]]
ENST00000439369	[[129805500, 129805694], [129809833, 129809929], [129812213, 129812292], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014565]]	[[129805631, 129805694], [129809833, 129809929], [129812213, 129812292], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014258]]
ENST00000503215	[[129805500, 129805694], [129809833, 129809929], [129812213, 129812292], [129913321, 129913392], [129919028, 129919094], [129920826, 129920949], [129924895, 129925031], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014567]]	[[129805631, 129805694], [129809833, 129809929], [129812213, 129812292], [129913321, 129913392], [129919028, 129919094], [129920826, 129920949], [129924895, 129925031], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003493]]
ENST00000502495	[[129805544, 129805694], [129809833, 129809929], [129812213, 129812292], [129857809, 129858006], [129864150, 129864343], [129867161, 129867307], [129869650, 129869725], [129873497, 129873687], [129873923, 129873995], [129878180, 129878279], [129880754, 129880932], [129886381, 129886473], [129891532, 129891623], [129913321, 129913392], [129918358, 129918440]]	None
ENST00000503565	[[129786075, 129786146], [129793359, 129793477], [129794260, 129794398], [129795569, 129795621], [129797661, 129797791], [129809833, 129809929], [129812213, 129812292], [129857809, 129857859]]	None
ENST00000506368	[[129957749, 129959281], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014532]]	[[129959175, 129959281], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014258]]
ENST00000511426	[[129960347, 129961367], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014700]]	[[129961361, 129961367], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014258]]
ENST00000503401	[[129960384, 129961367], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014297, 130014718]]	[[129961361, 129961367], [129964549, 129964622], [129965147, 129965206], [130003460, 130003493]]
NM_144643	[[129805147, 129805694], [129809833, 129809929], [129812213, 129812292], [129857809, 129858006], [129864150, 129864343], [129867161, 129867307], [129869650, 129869725], [129873923, 129873995], [129878180, 129878279], [129880754, 129880932], [129886381, 129886473], [129891532, 129891623], [129913321, 129913392], [129919028, 129919094], [129920826, 129920949], [129924895, 129925031], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014762]]	[[129805631, 129805694], [129809833, 129809929], [129812213, 129812292], [129857809, 129858006], [129864150, 129864343], [129867161, 129867307], [129869650, 129869725], [129873923, 129873995], [129878180, 129878279], [129880754, 129880932], [129886381, 129886473], [129891532, 129891623], [129913321, 129913392], [129919028, 129919094], [129920826, 129920949], [129924895, 129925031], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014258]]
NM_001300898	[[129957749, 129959281], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014762]]	[[129959175, 129959281], [129960195, 129960251], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014258]]
NM_001300897	[[129960347, 129961367], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014762]]	[[129961361, 129961367], [129964549, 129964622], [129965147, 129965206], [130003460, 130003528], [130014224, 130014258]]

Promoter

Chrom	Start	End	Description
chr4	129893584	129893586	CAGE_peak_5_at_SCLT1_5end
chr4	130014579	130014590	CAGE_peak_4_at_SCLT1_5end
chr4	130014609	130014701	CAGE_peak_1_at_SCLT1_5end
chr4	130014705	130014728	CAGE_peak_3_at_SCLT1_5end
chr4	130014729	130014777	CAGE_peak_2_at_SCLT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I128861	128861722	128863902	0.89	[{'connected_gene': 'JADE1', 'score': 12.32}, {'connected_gene': 'C4orf33', 'score': 10.26}, {'connected_gene': 'SCLT1', 'score': 10.26}, {'connected_gene': 'PIR40738', 'score': 0.44}, {'connected_gene': 'ENSG00000275647', 'score': 0.18}]
chr4	GH04I128871	128871319	128872533	0.84	[{'connected_gene': 'JADE1', 'score': 11.18}, {'connected_gene': 'C4orf33', 'score': 9.8}, {'connected_gene': 'SCLT1', 'score': 9.8}, {'connected_gene': 'PIR40738', 'score': 0.39}, {'connected_gene': 'ENSG00000275647', 'score': 0.19}]
chr4	GH04I128840	128840680	128842068	0.8	[{'connected_gene': 'JADE1', 'score': 11.49}, {'connected_gene': 'C4orf33', 'score': 10.24}, {'connected_gene': 'SCLT1', 'score': 10.24}, {'connected_gene': 'PIR40738', 'score': 0.37}]
chr4	GH04I128838	128838872	128840219	0.2	[{'connected_gene': 'JADE1', 'score': 11.75}, {'connected_gene': 'C4orf33', 'score': 10.24}, {'connected_gene': 'SCLT1', 'score': 10.24}, {'connected_gene': 'PIR40738', 'score': 0.37}]
chr4	GH04I128853	128853341	128856539	0.78	[{'connected_gene': 'JADE1', 'score': 12.37}, {'connected_gene': 'PGRMC2', 'score': 9.01}, {'connected_gene': 'LOC100507487', 'score': 9.01}, {'connected_gene': 'C4orf33', 'score': 6.6}, {'connected_gene': 'SCLT1', 'score': 4.14}, {'connected_gene': 'PIR40738', 'score': 0.77}]
chr4	GH04I128858	128858199	128861040	0.87	[{'connected_gene': 'C4orf33', 'score': 17.6}, {'connected_gene': 'JADE1', 'score': 12.33}, {'connected_gene': 'SCLT1', 'score': 10.34}, {'connected_gene': 'PIR40738', 'score': 0.77}, {'connected_gene': 'ENSG00000275647', 'score': 0.17}]
chr4	GH04I129091	129091654	129097001	2.48	[{'connected_gene': 'C4orf33', 'score': 568.67}, {'connected_gene': 'SCLT1', 'score': 558.69}, {'connected_gene': 'JADE1', 'score': 11.74}, {'connected_gene': 'LOC100127912', 'score': 0.28}]
chr4	GH04I128821	128821638	128821655	0.4	[{'connected_gene': 'C4orf33', 'score': 9.42}, {'connected_gene': 'SCLT1', 'score': 9.42}, {'connected_gene': 'JADE1', 'score': 0.39}, {'connected_gene': 'PIR40738', 'score': 0.28}]
chr4	GH04I128819	128819001	128819400	0.58	[{'connected_gene': 'C4orf33', 'score': 17.06}, {'connected_gene': 'SCLT1', 'score': 9.42}, {'connected_gene': 'JADE1', 'score': 0.44}, {'connected_gene': 'PIR40738', 'score': 0.28}]
chr4	GH04I129326	129326733	129328665	0.64	[{'connected_gene': 'C4orf33', 'score': 3.22}, {'connected_gene': 'SCLT1', 'score': 1.3}, {'connected_gene': 'LOC105377416', 'score': 0.39}, {'connected_gene': 'LOC105377417', 'score': 0.22}]
chr4	GH04I128957	128957801	128958679	0.99	[{'connected_gene': 'C4orf33', 'score': 23.78}, {'connected_gene': 'SCLT1', 'score': 15.1}, {'connected_gene': 'ENSG00000275647', 'score': 0.39}, {'connected_gene': 'ENSG00000281369', 'score': 0.18}]
chr4	GH04I128912	128912601	128914000	0.93	[{'connected_gene': 'SCLT1', 'score': 29.15}, {'connected_gene': 'JADE1', 'score': 12.4}, {'connected_gene': 'C4orf33', 'score': 6.34}, {'connected_gene': 'ENSG00000275647', 'score': 0.29}, {'connected_gene': 'PIR40738', 'score': 0.22}]
chr4	GH04I128916	128916325	128918821	1.26	[{'connected_gene': 'SCLT1', 'score': 42.94}, {'connected_gene': 'C4orf33', 'score': 25.4}, {'connected_gene': 'JADE1', 'score': 12.68}, {'connected_gene': 'ENSG00000275647', 'score': 0.31}, {'connected_gene': 'PIR40738', 'score': 0.21}]
chr4	GH04I128979	128979584	128980695	0.74	[{'connected_gene': 'ENSG00000275647', 'score': 0.28}, {'connected_gene': 'ENSG00000281369', 'score': 0.21}, {'connected_gene': 'SCLT1', 'score': 0.14}]