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
ENST00000423145	[[6583193, 6583489], [6586164, 6586416], [6590113, 6590147], [6590851, 6591150]]	[[6583310, 6583489], [6586164, 6586416], [6590113, 6590147], [6590851, 6591013]]
ENST00000245903	[[6585849, 6586416], [6590113, 6590147], [6590851, 6591163]]	[[6586030, 6586416], [6590113, 6590147], [6590851, 6591013]]
ENST00000597430	[[6590113, 6590147], [6590851, 6591066], [6592426, 6592586], [6603951, 6604114]]	[[6590113, 6590147], [6590851, 6591013]]
NM_001330332	[[6581656, 6583489], [6586164, 6586416], [6590113, 6590147], [6590851, 6591163]]	[[6583310, 6583489], [6586164, 6586416], [6590113, 6590147], [6590851, 6591013]]
NM_001252	[[6585849, 6586416], [6590113, 6590147], [6590851, 6591163]]	[[6586030, 6586416], [6590113, 6590147], [6590851, 6591013]]

Promoter

Chrom	Start	End	Description
chr19	6590873	6590879	CAGE_peak_8_at_CD70_5end
chr19	6590884	6590916	CAGE_peak_3_at_CD70_5end
chr19	6590918	6590923	CAGE_peak_9_at_CD70_5end
chr19	6591020	6591040	CAGE_peak_6_at_CD70_5end
chr19	6591044	6591064	CAGE_peak_4_at_CD70_5end
chr19	6591068	6591101	CAGE_peak_2_at_CD70_5end
chr19	6591113	6591172	CAGE_peak_1_at_CD70_5end
chr19	6591173	6591184	CAGE_peak_7_at_CD70_5end
chr19	6591191	6591209	CAGE_peak_5_at_CD70_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I006517	6517730	6518821	1.45	[{'connected_gene': 'CD70', 'score': 7.64}, {'connected_gene': 'TNFSF9', 'score': 3.65}, {'connected_gene': 'RFX2', 'score': 1.51}, {'connected_gene': 'TUBB4A', 'score': 0.37}]
chr19	GH19I006588	6588727	6591813	2.01	[{'connected_gene': 'CD70', 'score': 557.26}, {'connected_gene': 'TNFSF9', 'score': 1.65}, {'connected_gene': 'PSPN', 'score': 1.44}, {'connected_gene': 'RPL7P50', 'score': 0.77}, {'connected_gene': 'GC19P006581', 'score': 0.44}]
chr19	GH19I006599	6599781	6604739	1.42	[{'connected_gene': 'CD70', 'score': 550.77}, {'connected_gene': 'GC19M006592', 'score': 550.77}, {'connected_gene': 'GTF2F1', 'score': 18.99}, {'connected_gene': 'SAFB', 'score': 12.78}, {'connected_gene': 'KHSRP', 'score': 11.97}, {'connected_gene': 'SAFB2', 'score': 10.12}, {'connected_gene': 'RPL7P50', 'score': 9.78}, {'connected_gene': 'GC19P006595', 'score': 0.44}]
chr19	GH19I006489	6489050	6490425	1.44	[{'connected_gene': 'ZNF557', 'score': 12.34}, {'connected_gene': 'DUS3L', 'score': 11.89}, {'connected_gene': 'SNRPEP4', 'score': 11.45}, {'connected_gene': 'VMAC', 'score': 10.93}, {'connected_gene': 'TRIP10', 'score': 10.66}, {'connected_gene': 'CD70', 'score': 5.08}, {'connected_gene': 'SLC25A23', 'score': 3.63}, {'connected_gene': 'TNFSF9', 'score': 1.72}, {'connected_gene': 'DENND1C', 'score': 1.61}, {'connected_gene': 'ENSG00000268191', 'score': 0.77}, {'connected_gene': 'ENSG00000268203', 'score': 0.77}]
chr19	GH19I006587	6587005	6588529	1.56	[{'connected_gene': 'DUS3L', 'score': 30.01}, {'connected_gene': 'ZNF557', 'score': 21.39}, {'connected_gene': 'VMAC', 'score': 19.84}, {'connected_gene': 'DENND1C', 'score': 18.13}, {'connected_gene': 'ARHGEF18', 'score': 12.45}, {'connected_gene': 'SAFB', 'score': 10.97}, {'connected_gene': 'TRIP10', 'score': 10.7}, {'connected_gene': 'GPR108', 'score': 10.35}, {'connected_gene': 'CD70', 'score': 6.82}, {'connected_gene': 'TNFSF9', 'score': 4.75}, {'connected_gene': 'GC19P006581', 'score': 0.44}, {'connected_gene': 'RPL7P50', 'score': 0.44}]
chr19	GH19I006610	6610285	6612237	0.63	[{'connected_gene': 'GTF2F1', 'score': 11.05}, {'connected_gene': 'LOC390877', 'score': 11.05}, {'connected_gene': 'CD70', 'score': 0.44}, {'connected_gene': 'GC19M006622', 'score': 0.39}]
chr19	GH19I006613	6613790	6613979	0.69	[{'connected_gene': 'GTF2F1', 'score': 11.05}, {'connected_gene': 'LOC390877', 'score': 11.05}, {'connected_gene': 'GC19M006622', 'score': 0.44}, {'connected_gene': 'CD70', 'score': 0.44}]
chr19	GH19I006608	6608686	6609790	0.64	[{'connected_gene': 'GTF2F1', 'score': 11.05}, {'connected_gene': 'LOC390877', 'score': 11.05}, {'connected_gene': 'CD70', 'score': 0.44}, {'connected_gene': 'GC19M006622', 'score': 0.39}]
chr19	GH19I006750	6750130	6750399	0.51	[{'connected_gene': 'ENSG00000269680', 'score': 550.77}, {'connected_gene': 'CD70', 'score': 5.49}, {'connected_gene': 'TRIP10', 'score': 0.39}]
chr19	GH19I006575	6575699	6581194	1.63	[{'connected_gene': 'GC19P006581', 'score': 550.77}, {'connected_gene': 'GC19P006580', 'score': 550.77}, {'connected_gene': 'TNFSF14', 'score': 12.23}, {'connected_gene': 'TNFSF9', 'score': 8.31}, {'connected_gene': 'CD70', 'score': 7.88}, {'connected_gene': 'DENND1C', 'score': 2.91}, {'connected_gene': 'ZNF557', 'score': 2.4}, {'connected_gene': 'GC19M006573', 'score': 0.44}, {'connected_gene': 'ENSG00000199223', 'score': 0.44}]
chr19	GH19I006592	6592204	6592933	1.23	[{'connected_gene': 'GC19P006595', 'score': 550.77}, {'connected_gene': 'RPL7P50', 'score': 550.77}, {'connected_gene': 'CD70', 'score': 18.52}, {'connected_gene': 'TNFSF9', 'score': 4.1}, {'connected_gene': 'DENND1C', 'score': 2.62}, {'connected_gene': 'ZNF557', 'score': 1.54}, {'connected_gene': 'GC19P006581', 'score': 0.39}]
chr19	GH19I006593	6593850	6593999	0.76	[{'connected_gene': 'GC19P006595', 'score': 550.77}, {'connected_gene': 'RPL7P50', 'score': 550.77}, {'connected_gene': 'GC19M006592', 'score': 0.44}, {'connected_gene': 'CD70', 'score': 0.39}]