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
ENST00000412964	[[109403212, 109403371], [109404487, 109404545], [109405307, 109405422], [109408130, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109492543, 109493034]]	[[109403278, 109403371], [109404487, 109404545], [109405307, 109405422], [109408130, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109492543, 109492584]]
ENST00000409529	[[109403216, 109403371], [109404487, 109404545], [109405307, 109405422], [109408010, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109492543, 109493032]]	[[109403278, 109403371], [109404487, 109404545], [109405307, 109405422], [109408010, 109408059]]
ENST00000295124	[[109403218, 109403371], [109404487, 109404545], [109405307, 109405422], [109408130, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109489906, 109490045], [109492543, 109493034]]	[[109403278, 109403371], [109404487, 109404545], [109405307, 109405422], [109408130, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109489906, 109490045], [109492543, 109492709]]
ENST00000456512	[[109408171, 109408258], [109410995, 109411177], [109414883, 109415042], [109421347, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463236]]	[[109408171, 109408258], [109410995, 109411177], [109414883, 109415042], [109421347, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463236]]
ENST00000470608	[[109403228, 109403260], [109404487, 109404545], [109405307, 109405422], [109408167, 109408258], [109410995, 109411126]]	None
ENST00000447782	[[109403243, 109403371], [109405307, 109405422], [109408135, 109408258], [109410995, 109411168]]	[[109403278, 109403371], [109405307, 109405352]]
ENST00000608781	[[109473383, 109473426], [109499126, 109499247], [109501557, 109501933]]	[[109473383, 109473426], [109499126, 109499203]]
ENST00000609740	[[109498646, 109501931]]	None
NM_001303106	[[109403205, 109403371], [109404487, 109404545], [109405307, 109405422], [109408135, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109489906, 109490045], [109492543, 109493047]]	[[109429290, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109489906, 109490045], [109492543, 109492709]]
NM_001303105	[[109403205, 109403371], [109404487, 109404545], [109405307, 109405422], [109408130, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109492543, 109493047]]	[[109403278, 109403371], [109404487, 109404545], [109405307, 109405422], [109408130, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109492543, 109492584]]
NM_144978	[[109403205, 109403371], [109404487, 109404545], [109405307, 109405422], [109408130, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109489906, 109490045], [109492543, 109493047]]	[[109403278, 109403371], [109404487, 109404545], [109405307, 109405422], [109408130, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109489906, 109490045], [109492543, 109492709]]
NR_130121	[[109403205, 109403371], [109404487, 109404545], [109405307, 109405422], [109408010, 109408258], [109410995, 109411177], [109414883, 109415042], [109421344, 109421464], [109429086, 109429164], [109429275, 109429383], [109432396, 109432561], [109455640, 109455757], [109463193, 109463386], [109473249, 109473426], [109492543, 109493047]]	None

Promoter

Chrom	Start	End	Description
chr2	109403193	109403270	CAGE_peak_1_at_CCDC138_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I108775	108775372	108777674	0.74	[{'connected_gene': 'GCC2', 'score': 12.57}, {'connected_gene': 'CCDC138', 'score': 0.39}, {'connected_gene': 'RANBP2', 'score': 0.22}]
chr2	GH02I108916	108916047	108918008	0.46	[{'connected_gene': 'GCC2', 'score': 5.72}, {'connected_gene': 'CCDC138', 'score': 5.02}, {'connected_gene': 'GC02M108928', 'score': 0.39}, {'connected_gene': 'PIR56059', 'score': 0.34}, {'connected_gene': 'EDAR', 'score': 0.19}]
chr2	GH02I108718	108718562	108720801	2.1	[{'connected_gene': 'RANBP2', 'score': 555.63}, {'connected_gene': 'GCC2', 'score': 9.06}, {'connected_gene': 'GC02P108708', 'score': 0.39}, {'connected_gene': 'CCDC138', 'score': 0.2}]
chr2	GH02I108725	108725401	108725800	0.46	[{'connected_gene': 'RANBP2', 'score': 0.44}, {'connected_gene': 'CCDC138', 'score': 0.21}]
chr2	GH02I108785	108785644	108787942	2.02	[{'connected_gene': 'CCDC138', 'score': 550.77}, {'connected_gene': 'GCC2', 'score': 11.22}, {'connected_gene': 'LIMS1', 'score': 5.94}, {'connected_gene': 'RANBP2', 'score': 0.2}, {'connected_gene': 'RPL39P16', 'score': 0.16}]
chr2	GH02I108923	108923165	108923294	0.51	[{'connected_gene': 'CCDC138', 'score': 4.18}, {'connected_gene': 'GC02M108928', 'score': 0.44}, {'connected_gene': 'PIR56059', 'score': 0.31}, {'connected_gene': 'EDAR', 'score': 0.2}]
chr2	GH02I108890	108890041	108890260	0.37	[{'connected_gene': 'PIR52808', 'score': 550.77}, {'connected_gene': 'EDAR', 'score': 8.95}, {'connected_gene': 'CCDC138', 'score': 2.39}, {'connected_gene': 'LIMS1', 'score': 1.28}, {'connected_gene': 'GC02M108869', 'score': 0.77}, {'connected_gene': 'RPL39P16', 'score': 0.39}]