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
ENST00000533626	[[7991797, 7991854], [8003216, 8003330], [8008444, 8009263], [8013327, 8013398], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8023409]]	[[8008899, 8009263], [8013327, 8013398], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017569]]
ENST00000537635	[[8008436, 8009263], [8013327, 8013398], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017716]]	[[8008854, 8009263], [8013327, 8013398], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017569]]
ENST00000309828	[[8008866, 8009263], [8013327, 8013398], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017716]]	[[8008899, 8009263], [8013327, 8013398], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017569]]
ENST00000531329	[[8008883, 8009263], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017622]]	[[8008899, 8009263], [8013630, 8013641]]
ENST00000449102	[[8008887, 8009263], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017622]]	[[8013642, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017569]]
ENST00000528653	[[8008902, 8009263], [8013327, 8013518], [8013630, 8013710], [8014433, 8014540]]	None
ENST00000532882	[[8013368, 8013710], [8014433, 8014545]]	None
ENST00000530219	[[8013673, 8013977], [8014045, 8014571], [8015972, 8016064], [8016528, 8017716]]	None
ENST00000528763	[[8016244, 8016665], [8016800, 8016914], [8017491, 8017565]]	None
ENST00000531572	[[8016560, 8016665], [8016800, 8017180]]	[[8016560, 8016665], [8016800, 8016998]]
NM_003754	[[8008866, 8009263], [8013327, 8013398], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017718]]	[[8008899, 8009263], [8013327, 8013398], [8013630, 8013710], [8014433, 8014571], [8015972, 8016064], [8016528, 8016665], [8016800, 8016914], [8017491, 8017569]]

Promoter

Chrom	Start	End	Description
chr11	7991573	7991621	CAGE_peak_4_at_EIF3F_5end
chr11	8008875	8008892	CAGE_peak_1_at_EIF3F_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I007985	7985857	7988520	2.1	[{'connected_gene': 'EIF3F', 'score': 604.44}, {'connected_gene': 'SNORA3B', 'score': 44.32}, {'connected_gene': 'OLFML1', 'score': 32.72}, {'connected_gene': 'TMEM9B-AS1', 'score': 25.04}, {'connected_gene': 'ZNF214', 'score': 24.56}, {'connected_gene': 'RPL27A', 'score': 14.05}, {'connected_gene': 'ST5', 'score': 12.62}, {'connected_gene': 'CASC23', 'score': 10.36}, {'connected_gene': 'TUB', 'score': 10.34}, {'connected_gene': 'PIR63023', 'score': 0.44}, {'connected_gene': 'COX6CP5', 'score': 0.44}]
chr11	GH11I008204	8204499	8209136	1.75	[{'connected_gene': 'RIC3', 'score': 18.89}, {'connected_gene': 'LOC101927936', 'score': 11.0}, {'connected_gene': 'TUB', 'score': 9.52}, {'connected_gene': 'CASC23', 'score': 9.52}, {'connected_gene': 'EIF3F', 'score': 4.84}, {'connected_gene': 'GC11M008201', 'score': 0.77}, {'connected_gene': 'GC11P008198', 'score': 0.44}]
chr11	GH11I008681	8681527	8690183	2.52	[{'connected_gene': 'SNORA3B', 'score': 618.74}, {'connected_gene': 'RPL27A', 'score': 583.52}, {'connected_gene': 'PIR32700', 'score': 550.77}, {'connected_gene': 'SNORA3A', 'score': 550.77}, {'connected_gene': 'GC11P008729', 'score': 550.77}, {'connected_gene': 'PIR61800', 'score': 550.77}, {'connected_gene': 'GC11P008726', 'score': 550.77}, {'connected_gene': 'GC11P008723', 'score': 550.77}, {'connected_gene': 'GC11P008725', 'score': 550.77}, {'connected_gene': 'GC11P008722', 'score': 550.77}, {'connected_gene': 'GC11P008728', 'score': 550.77}, {'connected_gene': 'TRIM66', 'score': 59.07}, {'connected_gene': 'EIF3F', 'score': 54.62}, {'connected_gene': 'ZNF143', 'score': 36.98}, {'connected_gene': 'RPL21P97', 'score': 33.5}, {'connected_gene': 'STK33', 'score': 12.78}, {'connected_gene': 'WEE1', 'score': 10.09}, {'connected_gene': 'RPL23AP65', 'score': 9.98}, {'connected_gene': 'ENSG00000254665', 'score': 0.44}]
chr11	GH11I008869	8869755	8873085	1.87	[{'connected_gene': 'ST5', 'score': 550.28}, {'connected_gene': 'TMEM9B-AS1', 'score': 41.09}, {'connected_gene': 'AKIP1', 'score': 19.83}, {'connected_gene': 'SNORA3B', 'score': 14.94}, {'connected_gene': 'ZNF143', 'score': 11.35}, {'connected_gene': 'EIF3F', 'score': 10.92}, {'connected_gene': 'TRIM66', 'score': 4.54}, {'connected_gene': 'GC11M008877', 'score': 0.44}, {'connected_gene': 'ENSG00000202276', 'score': 0.44}, {'connected_gene': 'RNA5SP330', 'score': 0.31}]
chr11	GH11I008825	8825542	8829210	1.5	[{'connected_gene': 'AKIP1', 'score': 16.51}, {'connected_gene': 'TMEM9B-AS1', 'score': 11.67}, {'connected_gene': 'WEE1', 'score': 10.65}, {'connected_gene': 'EIF3F', 'score': 10.27}, {'connected_gene': 'SNORA3A', 'score': 9.98}, {'connected_gene': 'RPL27A', 'score': 9.98}, {'connected_gene': 'ENSG00000254665', 'score': 9.91}, {'connected_gene': 'SCUBE2', 'score': 8.85}, {'connected_gene': 'GC11P008808', 'score': 0.37}, {'connected_gene': 'RNA5SP330', 'score': 0.37}, {'connected_gene': 'ST5', 'score': 0.18}]
chr11	GH11I007676	7676488	7678172	0.87	[{'connected_gene': 'CYB5R2', 'score': 567.25}, {'connected_gene': 'EIF3F', 'score': 12.29}, {'connected_gene': 'LOC100506258', 'score': 11.41}, {'connected_gene': 'LOC105376533', 'score': 11.35}, {'connected_gene': 'OVCH2', 'score': 11.32}, {'connected_gene': 'OLFML1', 'score': 10.1}, {'connected_gene': 'OR10AB1P', 'score': 4.83}, {'connected_gene': 'ENSG00000275612', 'score': 0.34}]
chr11	GH11I008829	8829214	8836410	1.21	[{'connected_gene': 'TMEM9B-AS1', 'score': 26.47}, {'connected_gene': 'AKIP1', 'score': 13.57}, {'connected_gene': 'SCUBE2', 'score': 10.98}, {'connected_gene': 'WEE1', 'score': 10.65}, {'connected_gene': 'TMEM9B', 'score': 10.59}, {'connected_gene': 'EIF3F', 'score': 10.27}, {'connected_gene': 'RPL27A', 'score': 10.08}, {'connected_gene': 'ENSG00000254665', 'score': 10.03}, {'connected_gene': 'ENSG00000254900', 'score': 9.3}, {'connected_gene': 'RNA5SP330', 'score': 0.39}, {'connected_gene': 'GC11P008808', 'score': 0.34}, {'connected_gene': 'ST5', 'score': 0.18}]
chr11	GH11I007909	7909085	7910781	0.43	[{'connected_gene': 'OVCH2', 'score': 9.3}, {'connected_gene': 'NLRP10', 'score': 5.38}, {'connected_gene': 'EIF3F', 'score': 4.47}, {'connected_gene': 'LOC283299', 'score': 0.77}, {'connected_gene': 'OR10A6', 'score': 0.34}]
chr11	GH11I007962	7962622	7970843	1.42	[{'connected_gene': 'NLRP10', 'score': 561.23}, {'connected_gene': 'GC11M007966', 'score': 550.77}, {'connected_gene': 'OR10A3', 'score': 10.96}, {'connected_gene': 'CASC23', 'score': 9.9}, {'connected_gene': 'TUB', 'score': 9.88}, {'connected_gene': 'EIF3F', 'score': 0.77}]
chr11	GH11I007904	7904401	7908768	0.76	[{'connected_gene': 'LOC283299', 'score': 550.77}, {'connected_gene': 'PIR62490', 'score': 550.77}, {'connected_gene': 'NLRP10', 'score': 15.65}, {'connected_gene': 'OR10A6', 'score': 11.84}, {'connected_gene': 'OR10A3', 'score': 11.12}, {'connected_gene': 'OVCH2', 'score': 10.2}, {'connected_gene': 'CASC23', 'score': 9.79}, {'connected_gene': 'TUB', 'score': 9.79}, {'connected_gene': 'EIF3F', 'score': 4.51}]
chr11	GH11I007974	7974801	7975000	0.4	[{'connected_gene': 'OR10A3', 'score': 10.86}, {'connected_gene': 'CASC23', 'score': 9.55}, {'connected_gene': 'TUB', 'score': 9.55}, {'connected_gene': 'EIF3F', 'score': 0.77}, {'connected_gene': 'COX6CP5', 'score': 0.77}]
chr11	GH11I007973	7973034	7973183	0.31	[{'connected_gene': 'OR10A3', 'score': 10.86}, {'connected_gene': 'CASC23', 'score': 9.55}, {'connected_gene': 'TUB', 'score': 9.53}, {'connected_gene': 'EIF3F', 'score': 0.77}, {'connected_gene': 'COX6CP5', 'score': 0.77}]
chr11	GH11I007975	7975869	7979099	1.17	[{'connected_gene': 'COX6CP5', 'score': 550.77}, {'connected_gene': 'EIF3F', 'score': 11.67}, {'connected_gene': 'CASC23', 'score': 10.33}, {'connected_gene': 'TUB', 'score': 10.31}, {'connected_gene': 'OVCH2', 'score': 4.39}, {'connected_gene': 'PIR63023', 'score': 0.37}]