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

Promoter

Chrom	Start	End	Description
chr16	57513657	57513683	CAGE_peak_2_at_DOK4_5end
chr16	57520378	57520412	CAGE_peak_1_at_DOK4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I057531	57531743	57539884	2.64	[{'connected_gene': 'CCDC102A', 'score': 565.2}, {'connected_gene': 'PIR39147', 'score': 550.77}, {'connected_gene': 'DOK4', 'score': 6.91}, {'connected_gene': 'ADGRG5', 'score': 2.47}]
chr16	GH16I057409	57409285	57410691	0.71	[{'connected_gene': 'RSPRY1', 'score': 12.37}, {'connected_gene': 'CIAPIN1', 'score': 11.98}, {'connected_gene': 'POLR2C', 'score': 9.96}, {'connected_gene': 'DOK4', 'score': 6.69}, {'connected_gene': 'CCL17', 'score': 0.39}, {'connected_gene': 'GC16P057430', 'score': 0.37}]
chr16	GH16I057392	57392355	57393447	0.31	[{'connected_gene': 'CX3CL1', 'score': 12.76}, {'connected_gene': 'CCL22', 'score': 12.71}, {'connected_gene': 'PLLP', 'score': 10.64}, {'connected_gene': 'DOK4', 'score': 6.33}, {'connected_gene': 'CIAPIN1', 'score': 5.58}, {'connected_gene': 'COQ9', 'score': 4.93}, {'connected_gene': 'GC16M057389', 'score': 0.77}, {'connected_gene': 'CCL17', 'score': 0.77}]
chr16	GH16I057360	57358801	57359200	0.6	[{'connected_gene': 'CCL22', 'score': 550.77}, {'connected_gene': 'DOK4', 'score': 7.34}, {'connected_gene': 'COQ9', 'score': 4.95}, {'connected_gene': 'GC16P057369', 'score': 0.44}, {'connected_gene': 'GC16M057308', 'score': 0.29}]
chr16	GH16I057431	57431908	57433416	0.52	[{'connected_gene': 'CIAPIN1', 'score': 16.67}, {'connected_gene': 'DOK4', 'score': 11.85}, {'connected_gene': 'POLR2C', 'score': 11.48}, {'connected_gene': 'ARL2BP', 'score': 9.66}, {'connected_gene': 'GC16P057430', 'score': 0.77}, {'connected_gene': 'GC16P057442', 'score': 0.44}]
chr16	GH16I057475	57475396	57477272	1.07	[{'connected_gene': 'CIAPIN1', 'score': 15.39}, {'connected_gene': 'DOK4', 'score': 6.69}, {'connected_gene': 'PIR51542', 'score': 0.44}]
chr16	GH16I057469	57469669	57473767	0.9	[{'connected_gene': 'CIAPIN1', 'score': 16.62}, {'connected_gene': 'PIR51542', 'score': 0.77}, {'connected_gene': 'POLR2C', 'score': 0.44}, {'connected_gene': 'DOK4', 'score': 0.37}]
chr16	GH16I057482	57482163	57487479	2.22	[{'connected_gene': 'DOK4', 'score': 563.38}, {'connected_gene': 'CIAPIN1', 'score': 21.15}, {'connected_gene': 'COQ9', 'score': 20.29}, {'connected_gene': 'LOC105371286', 'score': 13.11}, {'connected_gene': 'POLR2C', 'score': 12.07}, {'connected_gene': 'CX3CL1', 'score': 10.1}, {'connected_gene': 'CCL22', 'score': 10.09}, {'connected_gene': 'USB1', 'score': 6.55}, {'connected_gene': 'PIR51542', 'score': 0.37}]
chr16	GH16I057477	57477669	57481876	1.93	[{'connected_gene': 'DOK4', 'score': 560.69}, {'connected_gene': 'COQ9', 'score': 14.12}, {'connected_gene': 'CIAPIN1', 'score': 13.58}, {'connected_gene': 'CCDC102A', 'score': 6.63}, {'connected_gene': 'PIR51542', 'score': 0.39}]
chr16	GH16I057434	57434069	57434218	0.2	[{'connected_gene': 'DOK4', 'score': 11.85}, {'connected_gene': 'POLR2C', 'score': 11.84}, {'connected_gene': 'CX3CL1', 'score': 10.84}, {'connected_gene': 'CCL22', 'score': 10.81}, {'connected_gene': 'ARL2BP', 'score': 10.08}, {'connected_gene': 'GC16P057430', 'score': 0.77}, {'connected_gene': 'GC16P057442', 'score': 0.44}, {'connected_gene': 'CIAPIN1', 'score': 0.39}]
chr16	GH16I057506	57506809	57511126	0.8	[{'connected_gene': 'DOK4', 'score': 19.35}, {'connected_gene': 'POLR2C', 'score': 11.75}, {'connected_gene': 'CIAPIN1', 'score': 11.32}, {'connected_gene': 'COQ9', 'score': 11.32}, {'connected_gene': 'ADGRG1', 'score': 10.25}, {'connected_gene': 'CCDC102A', 'score': 7.22}, {'connected_gene': 'PIR46688', 'score': 0.39}, {'connected_gene': 'ADGRG5', 'score': 0.34}]
chr16	GH16I057512	57512857	57515641	0.72	[{'connected_gene': 'DOK4', 'score': 7.33}, {'connected_gene': 'ADGRG5', 'score': 5.23}, {'connected_gene': 'PIR46688', 'score': 0.37}, {'connected_gene': 'CCDC102A', 'score': 0.34}]
chr16	GH16I057519	57519849	57520018	0.86	[{'connected_gene': 'DOK4', 'score': 7.27}, {'connected_gene': 'ADGRG5', 'score': 0.44}, {'connected_gene': 'CCDC102A', 'score': 0.37}, {'connected_gene': 'PIR46688', 'score': 0.34}]
chr16	GH16I057462	57462009	57463777	2.06	[{'connected_gene': 'POLR2C', 'score': 550.77}, {'connected_gene': 'ENSG00000260345', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 17.11}, {'connected_gene': 'CIAPIN1', 'score': 16.63}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'NLRC5', 'score': 10.55}, {'connected_gene': 'DOK4', 'score': 7.62}, {'connected_gene': 'CCDC102A', 'score': 6.3}, {'connected_gene': 'PIR63065', 'score': 0.77}]
chr16	GH16I057382	57382970	57385790	0.87	[{'connected_gene': 'PLLP', 'score': 10.68}, {'connected_gene': 'DOK4', 'score': 7.75}, {'connected_gene': 'CIAPIN1', 'score': 6.67}, {'connected_gene': 'GC16M057308', 'score': 0.77}, {'connected_gene': 'CX3CL1', 'score': 0.39}]
chr16	GH16I056604	56604775	56615536	2.79	[{'connected_gene': 'MT2A', 'score': 553.69}, {'connected_gene': 'ENSG00000260823', 'score': 550.77}, {'connected_gene': 'GC16P056608', 'score': 550.77}, {'connected_gene': 'GC16P056609', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 24.6}, {'connected_gene': 'POLR2C', 'score': 19.13}, {'connected_gene': 'BBS2', 'score': 17.36}, {'connected_gene': 'MT1A', 'score': 15.36}, {'connected_gene': 'MT1F', 'score': 11.87}, {'connected_gene': 'MT1G', 'score': 11.53}, {'connected_gene': 'MT1H', 'score': 11.53}, {'connected_gene': 'MT3', 'score': 11.52}, {'connected_gene': 'MT1DP', 'score': 11.48}, {'connected_gene': 'MT1CP', 'score': 11.46}, {'connected_gene': 'MT1B', 'score': 11.3}, {'connected_gene': 'MT1X', 'score': 10.91}, {'connected_gene': 'NUP93', 'score': 10.64}, {'connected_gene': 'MIR138-2', 'score': 9.93}, {'connected_gene': 'MT1E', 'score': 9.44}, {'connected_gene': 'MT4', 'score': 8.48}, {'connected_gene': 'MT1L', 'score': 8.32}, {'connected_gene': 'DOK4', 'score': 5.44}, {'connected_gene': 'HMGB3P32', 'score': 4.98}, {'connected_gene': 'NLRC5', 'score': 4.83}, {'connected_gene': 'MT1M', 'score': 3.78}, {'connected_gene': 'HERPUD1', 'score': 2.48}]
chr16	GH16I057528	57527604	57531659	1.48	[{'connected_gene': 'ADGRG5', 'score': 556.82}, {'connected_gene': 'CCDC102A', 'score': 8.65}, {'connected_gene': 'DOK4', 'score': 7.21}, {'connected_gene': 'NUP93', 'score': 4.74}, {'connected_gene': 'ZNF319', 'score': 2.26}, {'connected_gene': 'PIR39147', 'score': 0.44}]
chr16	GH16I057542	57541982	57545933	1.81	[{'connected_gene': 'ADGRG5', 'score': 560.22}, {'connected_gene': 'CCDC102A', 'score': 14.68}, {'connected_gene': 'DOK4', 'score': 6.58}, {'connected_gene': 'GC16P057566', 'score': 0.34}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000566936	[[57505862, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513717]]	[[57507288, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000340099	[[57505869, 57507407], [57507524, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513600], [57520216, 57520407]]	[[57507288, 57507407], [57507524, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000569548	[[57506788, 57507407], [57507524, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513786]]	[[57507288, 57507407], [57507524, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000569010	[[57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513600], [57517869, 57518010]]	[[57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000561659	[[57508623, 57508894], [57509011, 57509131], [57509761, 57509869], [57513353, 57513668]]	[[57509125, 57509131], [57509761, 57509869], [57513353, 57513419]]
ENST00000561918	[[57508801, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57512455, 57512574], [57513353, 57513706]]	None
ENST00000569250	[[57509054, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513600], [57513772, 57513811]]	[[57509054, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000564378	[[57509072, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513597], [57513772, 57513826]]	[[57509072, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000562737	[[57509073, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513600], [57515373, 57515765]]	[[57509073, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000568617	[[57509080, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513600], [57513756, 57513784]]	[[57509080, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000567276	[[57509080, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513597], [57513756, 57513784]]	[[57509080, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000566588	[[57509081, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513600], [57521007, 57521051]]	[[57509081, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000567214	[[57509110, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513600], [57514241, 57514329]]	[[57509110, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000569538	[[57509120, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513600], [57521157, 57521234]]	[[57509120, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000563483	[[57509425, 57509532], [57509761, 57510222]]	None
ENST00000566705	[[57509470, 57509532], [57509761, 57509869], [57513353, 57513597], [57517869, 57518206]]	[[57509470, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000562008	[[57509475, 57509532], [57509761, 57509869], [57513353, 57513600], [57514206, 57514289]]	[[57509475, 57509532], [57509761, 57509869], [57513353, 57513419]]
ENST00000567175	[[57509774, 57509869], [57513353, 57513600], [57521042, 57521239]]	[[57509774, 57509869], [57513353, 57513419]]
NM_001330556	[[57505833, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513779]]	[[57507288, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]
NM_018110	[[57505869, 57507407], [57507524, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513600], [57520216, 57520385]]	[[57507288, 57507407], [57507524, 57507648], [57507812, 57507951], [57508704, 57508894], [57509011, 57509131], [57509417, 57509532], [57509761, 57509869], [57513353, 57513419]]