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
ENST00000359314	[[47445524, 47445984], [47471015, 47471176], [47501337, 47501491], [47512341, 47512442], [47522381, 47522502], [47541799, 47541987], [47544259, 47544338], [47544744, 47544839], [47547120, 47547225], [47548599, 47548636], [47549738, 47549801], [47563596, 47563762], [47567036, 47567179], [47573900, 47574013], [47575662, 47575764], [47576858, 47577040], [47580208, 47580272], [47591921, 47594999]]	[[47445980, 47445984], [47471015, 47471176], [47501337, 47501491], [47512341, 47512442], [47522381, 47522502], [47541799, 47541987], [47544259, 47544338], [47544744, 47544839], [47547120, 47547225], [47548599, 47548636], [47549738, 47549801], [47563596, 47563762], [47567036, 47567179], [47573900, 47574013], [47575662, 47575764], [47576858, 47577040], [47580208, 47580272], [47591921, 47591963]]
ENST00000477159	[[47501420, 47501491], [47512341, 47512881]]	None
ENST00000463175	[[47544248, 47544338], [47544744, 47544839], [47547120, 47547642]]	None
ENST00000479857	[[47547129, 47547225], [47548599, 47548636], [47549738, 47550009]]	None
ENST00000486693	[[47575607, 47575764], [47576858, 47577249]]	None
NM_012120	[[47445524, 47445984], [47471015, 47471176], [47501337, 47501491], [47512341, 47512442], [47522381, 47522502], [47541799, 47541987], [47544259, 47544338], [47544744, 47544839], [47547120, 47547225], [47548599, 47548636], [47549738, 47549801], [47563596, 47563762], [47567036, 47567179], [47573900, 47574013], [47575662, 47575764], [47576858, 47577040], [47580208, 47580272], [47591921, 47594999]]	[[47445980, 47445984], [47471015, 47471176], [47501337, 47501491], [47512341, 47512442], [47522381, 47522502], [47541799, 47541987], [47544259, 47544338], [47544744, 47544839], [47547120, 47547225], [47548599, 47548636], [47549738, 47549801], [47563596, 47563762], [47567036, 47567179], [47573900, 47574013], [47575662, 47575764], [47576858, 47577040], [47580208, 47580272], [47591921, 47591963]]

Promoter

Chrom	Start	End	Description
chr6	47445467	47445536	CAGE_peak_1_at_CD2AP_5end
chr6	47445537	47445564	CAGE_peak_3_at_CD2AP_5end
chr6	47445710	47445738	CAGE_peak_6_at_CD2AP_5end
chr6	47445745	47445788	CAGE_peak_4_at_CD2AP_5end
chr6	47445877	47445960	CAGE_peak_2_at_CD2AP_5end
chr6	47547142	47547156	CAGE_peak_5_at_CD2AP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I046734	46733980	46735826	1.86	[{'connected_gene': 'PLA2G7', 'score': 550.77}, {'connected_gene': 'SLC25A27', 'score': 64.67}, {'connected_gene': 'TDRD6', 'score': 32.17}, {'connected_gene': 'CYP39A1', 'score': 20.99}, {'connected_gene': 'CD2AP', 'score': 17.99}, {'connected_gene': 'GC06P046731', 'score': 0.77}]
chr6	GH06I047241	47241745	47243599	1.44	[{'connected_gene': 'CD2AP', 'score': 10.92}, {'connected_gene': 'TNFRSF21', 'score': 0.2}, {'connected_gene': 'LOC105375081', 'score': 0.15}]
chr6	GH06I047403	47403369	47408198	0.81	[{'connected_gene': 'CD2AP', 'score': 15.73}, {'connected_gene': 'ADGRF2', 'score': 14.94}, {'connected_gene': 'CYP39A1', 'score': 12.72}, {'connected_gene': 'LOC105375082', 'score': 0.44}, {'connected_gene': 'ENSG00000270761', 'score': 0.19}]
chr6	GH06I047519	47519284	47523533	0.78	[{'connected_gene': 'CD2AP', 'score': 23.86}, {'connected_gene': 'ENSG00000270761', 'score': 16.27}, {'connected_gene': 'ADGRF2', 'score': 16.08}, {'connected_gene': 'ADGRF4', 'score': 4.61}, {'connected_gene': 'ENSG00000199762', 'score': 0.29}, {'connected_gene': 'RPS12P14', 'score': 0.26}]
chr6	GH06I047419	47419221	47421412	1.19	[{'connected_gene': 'CD2AP', 'score': 4.88}, {'connected_gene': 'ADGRF2', 'score': 4.37}, {'connected_gene': 'LOC105375082', 'score': 0.34}, {'connected_gene': 'ENSG00000270761', 'score': 0.22}]
chr6	GH06I047428	47428338	47430340	0.49	[{'connected_gene': 'CD2AP', 'score': 17.59}, {'connected_gene': 'ENSG00000270761', 'score': 7.08}, {'connected_gene': 'LOC105375082', 'score': 0.29}]
chr6	GH06I047413	47413625	47415564	1.44	[{'connected_gene': 'CD2AP', 'score': 11.94}, {'connected_gene': 'LOC105375082', 'score': 0.37}, {'connected_gene': 'ENSG00000270761', 'score': 0.21}]
chr6	GH06I047481	47481802	47482200	0.43	[{'connected_gene': 'ADGRF2', 'score': 14.43}, {'connected_gene': 'CD2AP', 'score': 0.77}, {'connected_gene': 'GC06P047489', 'score': 0.44}]
chr6	GH06I047523	47523830	47526910	0.49	[{'connected_gene': 'ADGRF2', 'score': 16.02}, {'connected_gene': 'ENSG00000270761', 'score': 13.4}, {'connected_gene': 'ENSG00000199762', 'score': 0.28}, {'connected_gene': 'RPS12P14', 'score': 0.28}, {'connected_gene': 'CD2AP', 'score': 0.25}]
chr6	GH06I047475	47475478	47480779	2.08	[{'connected_gene': 'ENSG00000270761', 'score': 566.99}, {'connected_gene': 'CD2AP', 'score': 562.1}, {'connected_gene': 'ADGRF2', 'score': 14.43}, {'connected_gene': 'OPN5', 'score': 11.01}, {'connected_gene': 'GC06P047489', 'score': 0.39}]
chr6	GH06I047500	47500690	47501717	0.72	[{'connected_gene': 'ENSG00000270761', 'score': 14.66}, {'connected_gene': 'CD2AP', 'score': 12.67}, {'connected_gene': 'ENSG00000199762', 'score': 0.39}, {'connected_gene': 'RPS12P14', 'score': 0.21}]
chr6	GH06I047458	47458840	47461238	1.07	[{'connected_gene': 'ENSG00000270761', 'score': 16.6}, {'connected_gene': 'ADGRF2', 'score': 16.01}, {'connected_gene': 'CD2AP', 'score': 5.51}, {'connected_gene': 'LOC105375082', 'score': 0.21}]
chr6	GH06I047483	47483142	47485374	1.05	[{'connected_gene': 'ENSG00000270761', 'score': 15.91}, {'connected_gene': 'ADGRF2', 'score': 15.9}, {'connected_gene': 'GC06P047489', 'score': 0.77}, {'connected_gene': 'CD2AP', 'score': 0.44}]