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
ENST00000314797	[[128968448, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996614]]	[[128968552, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996267]]
ENST00000515725	[[128968474, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996614]]	None
ENST00000513965	[[128968469, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971941]]	None
ENST00000504350	[[128968495, 128968589], [128969524, 128969737], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973883]]	[[128968552, 128968589], [128969524, 128969637]]
ENST00000509208	[[128973169, 128973586], [128973827, 128973882]]	None
ENST00000504547	[[128979069, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984518]]	None
ENST00000513410	[[128982753, 128982842], [128984391, 128984635], [128985866, 128986078]]	None
ENST00000509889	[[128984594, 128984625], [128991190, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996300]]	[[128984594, 128984625], [128991190, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996267]]
ENST00000514478	[[128991138, 128991258], [128991649, 128991747], [128992906, 128992979], [128993680, 128993819], [128994036, 128994135], [128996136, 128996341]]	[[128991138, 128991258], [128991649, 128991747], [128992906, 128992918]]
ENST00000512034	[[128991695, 128991747], [128993680, 128994026]]	None
NM_016128	[[128968452, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996616]]	[[128968552, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996267]]

Promoter

Chrom	Start	End	Description
chr3	128968437	128968505	CAGE_peak_1_at_COPG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I129428	129428118	129429957	1.9	[{'connected_gene': 'EFCAB12', 'score': 557.34}, {'connected_gene': 'ENSG00000244932', 'score': 17.99}, {'connected_gene': 'RPL32P3', 'score': 14.82}, {'connected_gene': 'ISY1', 'score': 14.55}, {'connected_gene': 'H1FX', 'score': 13.5}, {'connected_gene': 'MBD4', 'score': 12.95}, {'connected_gene': 'COPG1', 'score': 12.16}, {'connected_gene': 'RPS15AP16', 'score': 11.46}, {'connected_gene': 'IFT122', 'score': 8.7}]
chr3	GH03I129251	129251729	129255465	0.56	[{'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.55}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'KIAA1257', 'score': 11.1}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'HMCES', 'score': 7.2}, {'connected_gene': 'ACAD9', 'score': 5.17}, {'connected_gene': 'COPG1', 'score': 0.77}, {'connected_gene': 'MIR6826', 'score': 0.37}]
chr3	GH03I129259	129259778	129259927	0.57	[{'connected_gene': 'CNBP', 'score': 11.26}, {'connected_gene': 'ISY1', 'score': 11.15}, {'connected_gene': 'COPG1', 'score': 0.39}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3	GH03I129277	129277667	129280720	1.98	[{'connected_gene': 'HMCES', 'score': 579.85}, {'connected_gene': 'ISY1', 'score': 17.5}, {'connected_gene': 'MBD4', 'score': 16.66}, {'connected_gene': 'ENSG00000244932', 'score': 14.15}, {'connected_gene': 'RPL32P3', 'score': 12.77}, {'connected_gene': 'H1FX', 'score': 11.63}, {'connected_gene': 'RPS15AP16', 'score': 11.47}, {'connected_gene': 'CNBP', 'score': 10.63}, {'connected_gene': 'COPG1', 'score': 10.55}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'ACAD9', 'score': 6.89}, {'connected_gene': 'RAB7A', 'score': 4.09}, {'connected_gene': 'GC03M129283', 'score': 0.34}]
chr3	GH03I129256	129256618	129258851	0.57	[{'connected_gene': 'HMCES', 'score': 14.74}, {'connected_gene': 'ISY1', 'score': 12.29}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'CNBP', 'score': 11.27}, {'connected_gene': 'KIAA1257', 'score': 11.09}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'H1FX-AS1', 'score': 5.63}, {'connected_gene': 'RPL32P3', 'score': 4.87}, {'connected_gene': 'COPG1', 'score': 0.44}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3	GH03I129275	129275982	129277319	0.77	[{'connected_gene': 'HMCES', 'score': 29.85}, {'connected_gene': 'H1FX-AS1', 'score': 11.95}, {'connected_gene': 'H1FX', 'score': 11.95}, {'connected_gene': 'NUP210P3', 'score': 11.92}, {'connected_gene': 'CNBP', 'score': 11.26}, {'connected_gene': 'RAB43', 'score': 10.81}, {'connected_gene': 'ACAD9', 'score': 5.71}, {'connected_gene': 'RPL32P3', 'score': 5.58}, {'connected_gene': 'MIR6826', 'score': 0.77}, {'connected_gene': 'COPG1', 'score': 0.31}]
chr3	GH03I128877	128877729	128881374	2.11	[{'connected_gene': 'ACAD9', 'score': 573.47}, {'connected_gene': 'PIR50406', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 39.18}, {'connected_gene': 'RPL32P3', 'score': 38.41}, {'connected_gene': 'ISY1', 'score': 29.64}, {'connected_gene': 'H1FX', 'score': 20.52}, {'connected_gene': 'LOC653712', 'score': 17.08}, {'connected_gene': 'H1FX-AS1', 'score': 14.83}, {'connected_gene': 'MBD4', 'score': 14.02}, {'connected_gene': 'RPS15AP16', 'score': 11.61}, {'connected_gene': 'RUVBL1', 'score': 10.98}, {'connected_gene': 'EEFSEC', 'score': 10.83}, {'connected_gene': 'EFCC1', 'score': 10.7}, {'connected_gene': 'COPG1', 'score': 10.29}, {'connected_gene': 'RPN1', 'score': 9.8}, {'connected_gene': 'RAB7A', 'score': 7.74}]
chr3	GH03I129591	129591270	129610677	2.56	[{'connected_gene': 'PLXND1', 'score': 558.48}, {'connected_gene': 'RPL32P3', 'score': 16.46}, {'connected_gene': 'IFT122', 'score': 14.22}, {'connected_gene': 'LINC02021', 'score': 13.11}, {'connected_gene': 'ACAD9', 'score': 12.45}, {'connected_gene': 'H1FX-AS1', 'score': 10.97}, {'connected_gene': 'RHO', 'score': 10.41}, {'connected_gene': 'ENSG00000244932', 'score': 10.24}, {'connected_gene': 'ENSG00000203644', 'score': 4.49}, {'connected_gene': 'H1FOO', 'score': 1.57}, {'connected_gene': 'COPG1', 'score': 1.51}, {'connected_gene': 'RN7SL752P', 'score': 0.44}]
chr3	GH03I129248	129248298	129250875	2.18	[{'connected_gene': 'COPG1', 'score': 550.77}, {'connected_gene': 'PIR44075', 'score': 550.77}, {'connected_gene': 'HMCES', 'score': 15.1}, {'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.56}, {'connected_gene': 'RAB43', 'score': 11.17}, {'connected_gene': 'GP9', 'score': 10.26}, {'connected_gene': 'H1FX-AS1', 'score': 5.13}, {'connected_gene': 'MBD4', 'score': 4.28}, {'connected_gene': 'MIR6826', 'score': 0.34}]
chr3	GH03I129178	129178341	129186747	2.27	[{'connected_gene': 'LOC105374101', 'score': 550.77}, {'connected_gene': 'CNBP', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 22.16}, {'connected_gene': 'RPL32P3', 'score': 21.62}, {'connected_gene': 'ISY1', 'score': 20.17}, {'connected_gene': 'MBD4', 'score': 14.06}, {'connected_gene': 'RPS15AP16', 'score': 11.48}, {'connected_gene': 'H1FX', 'score': 11.47}, {'connected_gene': 'H1FX-AS1', 'score': 10.91}, {'connected_gene': 'COPG1', 'score': 10.45}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'RAB7A', 'score': 5.61}, {'connected_gene': 'EFCC1', 'score': 4.16}, {'connected_gene': 'GC03M129158', 'score': 0.39}]
chr3	GH03I130001	130001924	130003985	0.72	[{'connected_gene': 'PIR61902', 'score': 550.77}, {'connected_gene': 'ENSG00000284731', 'score': 550.77}, {'connected_gene': 'COL6A4P2', 'score': 12.86}, {'connected_gene': 'COPG1', 'score': 5.03}, {'connected_gene': 'RPS17P9', 'score': 0.37}]
chr3	GH03I129907	129907921	129909147	0.79	[{'connected_gene': 'ENSG00000244932', 'score': 17.77}, {'connected_gene': 'RPL32P3', 'score': 14.54}, {'connected_gene': 'ISY1', 'score': 14.52}, {'connected_gene': 'PIK3R4', 'score': 14.26}, {'connected_gene': 'H1FX', 'score': 13.39}, {'connected_gene': 'MBD4', 'score': 12.6}, {'connected_gene': 'COPG1', 'score': 12.09}, {'connected_gene': 'ENSG00000203644', 'score': 4.22}, {'connected_gene': 'TMCC1-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000250643', 'score': 0.21}, {'connected_gene': 'GC03P129794', 'score': 0.06}]