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
ENST00000239165	[[46684593, 46685457], [46687880, 46688379]]	[[46685203, 46685457], [46687880, 46688280]]
ENST00000567101	[[46684988, 46685457], [46710875, 46710934]]	None
ENST00000467314	[[46685077, 46685457], [46685590, 46685688]]	None
NM_004502	[[46684593, 46685457], [46687880, 46688383]]	[[46685203, 46685457], [46687880, 46688280]]

Promoter

Chrom	Start	End	Description
chr17	46687935	46687950	CAGE_peak_3_at_HOXB7_5end
chr17	46687959	46688007	CAGE_peak_2_at_HOXB7_5end
chr17	46688310	46688323	CAGE_peak_4_at_HOXB7_5end
chr17	46688334	46688385	CAGE_peak_1_at_HOXB7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I048618	48618870	48620168	1.2	[{'connected_gene': 'CDK5RAP3', 'score': 21.67}, {'connected_gene': 'ENSG00000264701', 'score': 12.73}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'HOXB2', 'score': 5.7}, {'connected_gene': 'PIR56021', 'score': 0.77}, {'connected_gene': 'PIR55100', 'score': 0.77}, {'connected_gene': 'HOXB9', 'score': 0.44}, {'connected_gene': 'HOXB7', 'score': 0.39}]
chr17	GH17I048631	48631139	48631288	1.13	[{'connected_gene': 'MIR196A1', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 15.42}, {'connected_gene': 'SP2', 'score': 10.92}, {'connected_gene': 'CDK5RAP3', 'score': 4.6}, {'connected_gene': 'HOXB-AS4', 'score': 0.77}, {'connected_gene': 'HOXB7', 'score': 0.77}]
chr17	GH17I048623	48623432	48629868	2	[{'connected_gene': 'HOXB9', 'score': 560.38}, {'connected_gene': 'ENSG00000264701', 'score': 12.73}, {'connected_gene': 'ENSG00000230532', 'score': 11.87}, {'connected_gene': 'CDK5RAP3', 'score': 11.03}, {'connected_gene': 'PRAC2', 'score': 9.56}, {'connected_gene': 'PRAC1', 'score': 9.56}, {'connected_gene': 'HOXB13', 'score': 9.52}, {'connected_gene': 'LOC105371811', 'score': 9.51}, {'connected_gene': 'HOXB2', 'score': 8.9}, {'connected_gene': 'HOXB8', 'score': 4.92}, {'connected_gene': 'HOXB5', 'score': 2.52}, {'connected_gene': 'HOXB6', 'score': 2.51}, {'connected_gene': 'HOXB7', 'score': 2.2}, {'connected_gene': 'HOXB3', 'score': 1.57}, {'connected_gene': 'SNF8', 'score': 1.23}, {'connected_gene': 'PIR60728', 'score': 0.77}, {'connected_gene': 'HOXB-AS4', 'score': 0.77}]
chr17	GH17I048608	48608458	48618490	2.23	[{'connected_gene': 'HOXB8', 'score': 550.77}, {'connected_gene': 'PIR62254', 'score': 550.77}, {'connected_gene': 'HOXB7', 'score': 550.34}, {'connected_gene': 'ENSG00000263412', 'score': 20.94}, {'connected_gene': 'HOXB2', 'score': 14.82}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'SNX11', 'score': 6.26}, {'connected_gene': 'HOXB9', 'score': 5.79}, {'connected_gene': 'CALCOCO2', 'score': 4.4}, {'connected_gene': 'SCRN2', 'score': 4.27}, {'connected_gene': 'UBE2Z', 'score': 4.24}, {'connected_gene': 'PIR55100', 'score': 0.77}]
chr17	GH17I048634	48634354	48635179	0.59	[{'connected_gene': 'HOXB7', 'score': 550.77}, {'connected_gene': 'HOXB2', 'score': 11.34}, {'connected_gene': 'LINC02086', 'score': 0.44}, {'connected_gene': 'HOXB-AS4', 'score': 0.44}, {'connected_gene': 'LOC101060400', 'score': 0.39}]
chr17	GH17I048636	48636579	48636768	1.11	[{'connected_gene': 'HOXB7', 'score': 0.77}, {'connected_gene': 'LINC02086', 'score': 0.44}, {'connected_gene': 'LOC101060400', 'score': 0.39}]
chr17	GH17I048639	48639668	48640853	0.49	[{'connected_gene': 'HOXB2', 'score': 6.36}, {'connected_gene': 'CDK5RAP3', 'score': 4.22}, {'connected_gene': 'LINC02086', 'score': 0.77}, {'connected_gene': 'LOC101060400', 'score': 0.44}, {'connected_gene': 'HOXB7', 'score': 0.44}]
chr17	GH17I048538	48538779	48607552	3.02	[{'connected_gene': 'HOXB2', 'score': 589.8}, {'connected_gene': 'HOXB3', 'score': 564.5}, {'connected_gene': 'HOXB6', 'score': 558.14}, {'connected_gene': 'HOXB4', 'score': 557.76}, {'connected_gene': 'HOXB5', 'score': 554.58}, {'connected_gene': 'PIR47329', 'score': 550.77}, {'connected_gene': 'PIR34300', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 44.27}, {'connected_gene': 'SP2', 'score': 41.54}, {'connected_gene': 'ENSG00000264701', 'score': 40.36}, {'connected_gene': 'CDK5RAP3', 'score': 33.27}, {'connected_gene': 'ENSG00000263412', 'score': 20.95}, {'connected_gene': 'KPNB1', 'score': 18.05}, {'connected_gene': 'SKAP1', 'score': 16.34}, {'connected_gene': 'HOXB9', 'score': 14.67}, {'connected_gene': 'HOXB-AS1', 'score': 12.33}, {'connected_gene': 'HOXB-AS3', 'score': 12.19}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'LRRC46', 'score': 11.47}, {'connected_gene': 'HOXB-AS4', 'score': 11.23}, {'connected_gene': 'HOXB1', 'score': 11.1}, {'connected_gene': 'HOXB-AS2', 'score': 10.87}, {'connected_gene': 'ENSG00000266601', 'score': 10.36}, {'connected_gene': 'EGID-105371807', 'score': 9.93}, {'connected_gene': 'MIR1203', 'score': 8.92}, {'connected_gene': 'LOC102724532', 'score': 5.52}, {'connected_gene': 'SCRN2', 'score': 5.29}, {'connected_gene': 'SNX11', 'score': 5.16}, {'connected_gene': 'B4GALNT2', 'score': 5.12}, {'connected_gene': 'TTLL6', 'score': 5.04}, {'connected_gene': 'SP6', 'score': 4.62}, {'connected_gene': 'HOXB7', 'score': 4.39}, {'connected_gene': 'HOXB8', 'score': 4.28}, {'connected_gene': 'ENSG00000266821', 'score': 4.07}, {'connected_gene': 'GC17M048578', 'score': 0.77}, {'connected_gene': 'PIR40370', 'score': 0.77}, {'connected_gene': 'PIR53857', 'score': 0.77}, {'connected_gene': 'MIR10A', 'score': 0.44}, {'connected_gene': 'ENSG00000257178', 'score': 0.44}, {'connected_gene': 'PIR56911', 'score': 0.39}, {'connected_gene': 'PIR32705', 'score': 0.39}, {'connected_gene': 'GC17P048587', 'score': 0.39}, {'connected_gene': 'PIR40529', 'score': 0.39}, {'connected_gene': 'PIR49991', 'score': 0.37}, {'connected_gene': 'GC17P048589', 'score': 0.37}, {'connected_gene': 'PIR40384', 'score': 0.34}, {'connected_gene': 'PIR55455', 'score': 0.34}, {'connected_gene': 'PIR58858', 'score': 0.34}, {'connected_gene': 'PIR58910', 'score': 0.34}, {'connected_gene': 'GC17M048596', 'score': 0.34}, {'connected_gene': 'GC17M048544', 'score': 0.31}]
chr17	GH17I048619	48618639	48618848	1.09	[{'connected_gene': 'PIR56021', 'score': 0.77}, {'connected_gene': 'PIR55100', 'score': 0.77}, {'connected_gene': 'HOXB9', 'score': 0.44}, {'connected_gene': 'HOXB7', 'score': 0.39}]
chr17	GH17I048620	48620594	48621049	0.94	[{'connected_gene': 'PIR56021', 'score': 550.77}, {'connected_gene': 'HOXB9', 'score': 7.15}, {'connected_gene': 'PIR55100', 'score': 0.44}, {'connected_gene': 'HOXB7', 'score': 0.39}]