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
ENST00000376027	[[103418339, 103418930], [103420609, 103420661], [103421660, 103421891], [103422361, 103422436], [103423027, 103423184]]	[[103418886, 103418930], [103420609, 103420661], [103421660, 103421891], [103422361, 103422376]]
ENST00000376019	[[103418459, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103422620]]	[[103418750, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103421783]]
ENST00000376022	[[103418459, 103418930], [103420609, 103420661], [103421660, 103421891], [103426031, 103426105]]	[[103418886, 103418930], [103420609, 103420661], [103421660, 103421783]]
ENST00000376021	[[103418459, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103421891], [103426031, 103426109]]	[[103418750, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103421783]]
ENST00000376029	[[103418459, 103418930], [103420609, 103420661], [103421660, 103421891], [103422361, 103422436], [103426031, 103426161]]	[[103418886, 103418930], [103420609, 103420661], [103421660, 103421891], [103422361, 103422376]]
ENST00000376032	[[103418459, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103421891], [103422361, 103422436], [103426031, 103426161]]	[[103418750, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103421891], [103422361, 103422376]]
ENST00000487260	[[103420626, 103420661], [103421660, 103421891], [103422361, 103422436], [103425830, 103425888]]	None
NM_138779	[[103418237, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103421891], [103422361, 103422436], [103426031, 103426171]]	[[103418750, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103421891], [103422361, 103422376]]
NM_001286775	[[103418237, 103418930], [103420609, 103420661], [103421660, 103421891], [103422361, 103422436], [103426031, 103426171]]	[[103418886, 103418930], [103420609, 103420661], [103421660, 103421891], [103422361, 103422376]]
NM_001286776	[[103418237, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103421891], [103426031, 103426171]]	[[103418750, 103418930], [103419622, 103419828], [103420609, 103420661], [103421660, 103421783]]
NR_104590	[[103418237, 103418930], [103420609, 103420661], [103421660, 103421891], [103426031, 103426171]]	None

Promoter

Chrom	Start	End	Description
chr13	103426081	103426110	CAGE_peak_2_at_C13orf27_5end
chr13	103426112	103426164	CAGE_peak_1_at_C13orf27_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I102772	102772425	102774978	1.93	[{'connected_gene': 'TEX30', 'score': 550.77}, {'connected_gene': 'PIR36999', 'score': 550.77}, {'connected_gene': 'ERCC5', 'score': 28.49}, {'connected_gene': 'TPP2', 'score': 25.19}, {'connected_gene': 'METTL21EP', 'score': 6.29}]
chr13	GH13I102812	102812691	102813000	0.51	[{'connected_gene': 'TEX30', 'score': 11.19}, {'connected_gene': 'LINC00283', 'score': 10.43}, {'connected_gene': 'CCDC168', 'score': 10.42}, {'connected_gene': 'METTL21EP', 'score': 6.3}, {'connected_gene': 'RNY5P8', 'score': 0.44}, {'connected_gene': 'GC13M102806', 'score': 0.44}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.39}, {'connected_gene': 'BIVM', 'score': 0.39}]
chr13	GH13I102759	102759733	102759832	0.22	[{'connected_gene': 'CCDC168', 'score': 596.07}, {'connected_gene': 'LOC105370337', 'score': 550.77}, {'connected_gene': 'BIVM', 'score': 12.23}, {'connected_gene': 'KDELC1', 'score': 12.23}, {'connected_gene': 'ERCC5', 'score': 9.78}, {'connected_gene': 'TEX30', 'score': 2.15}]
chr13	GH13I102793	102793691	102793880	0.38	[{'connected_gene': 'BIVM', 'score': 0.44}, {'connected_gene': 'KDELC1', 'score': 0.44}, {'connected_gene': 'TEX30', 'score': 0.37}]
chr13	GH13I102830	102830390	102831619	1.02	[{'connected_gene': 'BIVM', 'score': 12.67}, {'connected_gene': 'ERCC5', 'score': 11.95}, {'connected_gene': 'TEX30', 'score': 11.19}, {'connected_gene': 'LINC00283', 'score': 10.28}, {'connected_gene': 'GC13P102835', 'score': 0.77}, {'connected_gene': 'RNY5P8', 'score': 0.39}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.29}]
chr13	GH13I102776	102776142	102777178	0.2	[{'connected_gene': 'BIVM', 'score': 10.82}, {'connected_gene': 'ERCC5', 'score': 10.68}, {'connected_gene': 'LINC00283', 'score': 10.67}, {'connected_gene': 'METTL21EP', 'score': 5.91}, {'connected_gene': 'TEX30', 'score': 0.77}]
chr13	GH13I102771	102771001	102771200	0.2	[{'connected_gene': 'BIVM', 'score': 11.96}, {'connected_gene': 'LINC00283', 'score': 10.97}, {'connected_gene': 'ERCC5', 'score': 10.48}, {'connected_gene': 'TEX30', 'score': 0.77}, {'connected_gene': 'PIR36999', 'score': 0.77}, {'connected_gene': 'LOC105370337', 'score': 0.39}]
chr13	GH13I102778	102778977	102780894	0.49	[{'connected_gene': 'ERCC5', 'score': 16.41}, {'connected_gene': 'CCDC168', 'score': 10.71}, {'connected_gene': 'LINC00283', 'score': 10.65}, {'connected_gene': 'TEX30', 'score': 0.44}, {'connected_gene': 'BIVM', 'score': 0.37}]
chr13	GH13I102844	102844531	102848468	2.28	[{'connected_gene': 'ERCC5', 'score': 572.91}, {'connected_gene': 'BIVM', 'score': 24.61}, {'connected_gene': 'TEX30', 'score': 11.39}, {'connected_gene': 'METTL21EP', 'score': 11.25}, {'connected_gene': 'TPP2', 'score': 10.79}, {'connected_gene': 'CCDC168', 'score': 10.68}, {'connected_gene': 'LINC00283', 'score': 10.66}, {'connected_gene': 'METTL21C', 'score': 9.91}, {'connected_gene': 'GC13P102835', 'score': 0.39}, {'connected_gene': 'GC13M102871', 'score': 0.31}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.25}]
chr13	GH13I102840	102840587	102841326	0.2	[{'connected_gene': 'GC13P102841', 'score': 550.77}, {'connected_gene': 'PIR34791', 'score': 550.77}, {'connected_gene': 'GC13P102840', 'score': 550.77}, {'connected_gene': 'ERCC5', 'score': 13.8}, {'connected_gene': 'TEX30', 'score': 11.4}, {'connected_gene': 'BIVM', 'score': 11.18}, {'connected_gene': 'CCDC168', 'score': 10.69}, {'connected_gene': 'LINC00283', 'score': 10.67}, {'connected_gene': 'METTL21C', 'score': 9.92}, {'connected_gene': 'METTL21EP', 'score': 8.88}, {'connected_gene': 'GC13P102835', 'score': 0.44}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.26}]