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
ENST00000295958	[[39547949, 39553778], [39558047, 39558190], [39574034, 39574083], [39606690, 39606800], [39640358, 39640710]]	[[39553745, 39553778], [39558047, 39558190], [39574034, 39574083], [39606690, 39606765]]
ENST00000512441	[[39553229, 39553778], [39574034, 39574083], [39585554, 39585578]]	None
ENST00000511809	[[39553262, 39553778], [39574034, 39574083], [39606690, 39606800], [39640358, 39640513]]	[[39553737, 39553778], [39574034, 39574083], [39606690, 39606765]]
ENST00000510628	[[39553404, 39553778], [39558047, 39558190], [39574034, 39574083], [39639782, 39639850]]	None
ENST00000507613	[[39553458, 39553778], [39558047, 39558190], [39606690, 39606800], [39640358, 39640465]]	[[39558148, 39558190], [39606690, 39606765]]
ENST00000505729	[[39558046, 39558190], [39574034, 39574083], [39606690, 39606800], [39613585, 39613730], [39640358, 39640522]]	[[39558046, 39558190], [39574034, 39574083], [39606690, 39606765]]
NM_001317897	[[39548916, 39553778], [39558047, 39558190], [39574034, 39574083], [39606690, 39606800], [39628603, 39628717]]	[[39553745, 39553778], [39558047, 39558190], [39574034, 39574083], [39606690, 39606765]]
NM_001317896	[[39548916, 39553778], [39558047, 39558190], [39574034, 39574083], [39606690, 39606800], [39613585, 39613730], [39640358, 39640618]]	[[39553745, 39553778], [39558047, 39558190], [39574034, 39574083], [39606690, 39606765]]
NM_174921	[[39548916, 39553778], [39558047, 39558190], [39574034, 39574083], [39606690, 39606800], [39640358, 39640618]]	[[39553745, 39553778], [39558047, 39558190], [39574034, 39574083], [39606690, 39606765]]

Promoter

Chrom	Start	End	Description
chr4	39640466	39640502	CAGE_peak_1_at_C4orf34_5end
chr4	39640515	39640529	CAGE_peak_4_at_C4orf34_5end
chr4	39640530	39640541	CAGE_peak_9_at_C4orf34_5end
chr4	39640548	39640563	CAGE_peak_3_at_C4orf34_5end
chr4	39640576	39640594	CAGE_peak_2_at_C4orf34_5end
chr4	39640599	39640610	CAGE_peak_5_at_C4orf34_5end
chr4	39640612	39640624	CAGE_peak_6_at_C4orf34_5end
chr4	39640700	39640712	CAGE_peak_8_at_C4orf34_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I039515	39514139	39514198	0.5	[{'connected_gene': 'UGDH', 'score': 550.39}, {'connected_gene': 'SMIM14', 'score': 11.35}, {'connected_gene': 'LOC105374419', 'score': 11.35}, {'connected_gene': 'UGDH-AS1', 'score': 0.39}, {'connected_gene': 'GC04M039495', 'score': 0.39}]
chr4	GH04I039468	39468772	39470300	1.31	[{'connected_gene': 'RPL9', 'score': 21.87}, {'connected_gene': 'PDS5A', 'score': 12.01}, {'connected_gene': 'SMIM14', 'score': 11.18}, {'connected_gene': 'LOC105374419', 'score': 11.18}, {'connected_gene': 'KLB', 'score': 10.33}, {'connected_gene': 'RNU6-887P', 'score': 10.31}, {'connected_gene': 'LIAS', 'score': 0.39}, {'connected_gene': 'LOC401127', 'score': 0.39}]
chr4	GH04I039546	39546638	39546886	0.22	[{'connected_gene': 'RPL9', 'score': 11.15}, {'connected_gene': 'SMIM14', 'score': 10.77}, {'connected_gene': 'LOC105374419', 'score': 10.77}, {'connected_gene': 'KLHL5', 'score': 1.71}, {'connected_gene': 'GC04M039547', 'score': 0.77}, {'connected_gene': 'UGDH-AS1', 'score': 0.37}, {'connected_gene': 'UGDH', 'score': 0.37}]
chr4	GH04I039520	39520742	39525313	0.85	[{'connected_gene': 'RPL9', 'score': 13.11}, {'connected_gene': 'SMIM14', 'score': 12.13}, {'connected_gene': 'LOC105374419', 'score': 12.13}, {'connected_gene': 'UGDH-AS1', 'score': 8.82}, {'connected_gene': 'UGDH', 'score': 5.07}, {'connected_gene': 'GC04M039495', 'score': 0.37}]
chr4	GH04I039617	39617517	39619094	1.1	[{'connected_gene': 'RPL9', 'score': 9.24}, {'connected_gene': 'SMIM14', 'score': 7.98}, {'connected_gene': 'RNU7-11P', 'score': 0.77}, {'connected_gene': 'GC04M039547', 'score': 0.2}]
chr4	GH04I039608	39608514	39610757	1.21	[{'connected_gene': 'RPL9', 'score': 9.27}, {'connected_gene': 'SMIM14', 'score': 6.61}, {'connected_gene': 'RNU7-11P', 'score': 0.39}, {'connected_gene': 'GC04M039547', 'score': 0.21}]
chr4	GH04I039538	39538318	39545639	0.85	[{'connected_gene': 'WDR19', 'score': 18.64}, {'connected_gene': 'RFC1', 'score': 14.75}, {'connected_gene': 'RPL9', 'score': 12.96}, {'connected_gene': 'KLF3-AS1', 'score': 12.23}, {'connected_gene': 'PDS5A', 'score': 12.09}, {'connected_gene': 'RNU7-11P', 'score': 12.01}, {'connected_gene': 'SMIM14', 'score': 11.29}, {'connected_gene': 'LOC105374419', 'score': 11.29}, {'connected_gene': 'N4BP2', 'score': 10.55}, {'connected_gene': 'UGDH-AS1', 'score': 10.36}, {'connected_gene': 'GC04M039547', 'score': 0.44}, {'connected_gene': 'UGDH', 'score': 0.39}]
chr4	GH04I040022	40022051	40023300	0.56	[{'connected_gene': 'WDR19', 'score': 18.61}, {'connected_gene': 'N4BP2', 'score': 18.01}, {'connected_gene': 'ENSG00000250568', 'score': 16.85}, {'connected_gene': 'RFC1', 'score': 14.68}, {'connected_gene': 'ZBTB12BP', 'score': 12.72}, {'connected_gene': 'PDS5A', 'score': 12.31}, {'connected_gene': 'SMIM14', 'score': 4.92}, {'connected_gene': 'RPL9', 'score': 4.23}, {'connected_gene': 'KRT18P25', 'score': 0.77}, {'connected_gene': 'GC04M040032', 'score': 0.39}]
chr4	GH04I039620	39620002	39627890	1.33	[{'connected_gene': 'PDS5A', 'score': 14.38}, {'connected_gene': 'N4BP2', 'score': 12.46}, {'connected_gene': 'RFC1', 'score': 11.73}, {'connected_gene': 'SMIM14', 'score': 11.63}, {'connected_gene': 'WDR19', 'score': 11.43}, {'connected_gene': 'RPL9', 'score': 8.99}, {'connected_gene': 'RNU7-11P', 'score': 0.77}, {'connected_gene': 'GC04P039621', 'score': 0.77}, {'connected_gene': 'LOC105374419', 'score': 0.37}]
chr4	GH04I039975	39975339	39978690	2.08	[{'connected_gene': 'PDS5A', 'score': 555.39}, {'connected_gene': 'GC04P039978', 'score': 550.77}, {'connected_gene': 'ENSG00000250568', 'score': 11.72}, {'connected_gene': 'SMIM14', 'score': 10.32}, {'connected_gene': 'LOC105374419', 'score': 10.32}, {'connected_gene': 'N4BP2', 'score': 8.21}]
chr4	GH04I039611	39611561	39617479	1.25	[{'connected_gene': 'SMIM14', 'score': 13.39}, {'connected_gene': 'RPL9', 'score': 6.89}, {'connected_gene': 'UBE2K', 'score': 4.77}, {'connected_gene': 'RNU7-11P', 'score': 0.44}, {'connected_gene': 'GC04M039547', 'score': 0.21}]
chr4	GH04I039514	39514291	39516131	1.19	[{'connected_gene': 'SMIM14', 'score': 11.35}, {'connected_gene': 'LOC105374419', 'score': 11.35}, {'connected_gene': 'KLF3-AS1', 'score': 10.34}, {'connected_gene': 'WDR19', 'score': 9.87}, {'connected_gene': 'UGDH-AS1', 'score': 8.52}, {'connected_gene': 'LOC401127', 'score': 6.06}, {'connected_gene': 'UGDH', 'score': 5.64}, {'connected_gene': 'RPL9', 'score': 5.04}, {'connected_gene': 'GC04M039495', 'score': 0.39}]
chr4	GH04I039970	39970416	39971749	1.04	[{'connected_gene': 'SMIM14', 'score': 10.32}, {'connected_gene': 'LOC105374419', 'score': 10.32}, {'connected_gene': 'N4BP2', 'score': 4.92}, {'connected_gene': 'PABPC1P1', 'score': 0.77}, {'connected_gene': 'PDS5A', 'score': 0.44}, {'connected_gene': 'RNA5SP159', 'score': 0.29}]
chr4	GH04I039732	39732742	39733312	0.49	[{'connected_gene': 'SMIM14', 'score': 10.97}, {'connected_gene': 'LOC105374419', 'score': 10.97}, {'connected_gene': 'UBE2K', 'score': 5.1}, {'connected_gene': 'ENSG00000249019', 'score': 0.37}, {'connected_gene': 'RN7SL558P', 'score': 0.31}]
chr4	GH04I039664	39664688	39665689	0.69	[{'connected_gene': 'SMIM14', 'score': 0.31}, {'connected_gene': 'LOC105374419', 'score': 0.31}, {'connected_gene': 'UBE2K', 'score': 0.29}]
chr4	GH04I039657	39657589	39657817	0.67	[{'connected_gene': 'SMIM14', 'score': 0.37}, {'connected_gene': 'LOC105374419', 'score': 0.37}, {'connected_gene': 'UBE2K', 'score': 0.26}]
chr4	GH04I039656	39656021	39656170	0.65	[{'connected_gene': 'SMIM14', 'score': 0.37}, {'connected_gene': 'LOC105374419', 'score': 0.37}, {'connected_gene': 'UBE2K', 'score': 0.26}]
chr4	GH04I039659	39659656	39661044	0.31	[{'connected_gene': 'SMIM14', 'score': 0.34}, {'connected_gene': 'LOC105374419', 'score': 0.34}, {'connected_gene': 'UBE2K', 'score': 0.28}]
chr4	GH04I039470	39470461	39470516	0.87	[{'connected_gene': 'SMIM14', 'score': 11.1}, {'connected_gene': 'LOC105374419', 'score': 11.1}, {'connected_gene': 'KLB', 'score': 10.33}, {'connected_gene': 'RNU6-887P', 'score': 10.31}, {'connected_gene': 'LOC401127', 'score': 0.44}, {'connected_gene': 'LIAS', 'score': 0.39}, {'connected_gene': 'RPL9', 'score': 0.39}]
chr4	GH04I039568	39568441	39570050	1.08	[{'connected_gene': 'SMIM14', 'score': 11.58}, {'connected_gene': 'LOC105374419', 'score': 11.58}, {'connected_gene': 'GC04M039547', 'score': 0.37}, {'connected_gene': 'UGDH-AS1', 'score': 0.26}, {'connected_gene': 'RNU7-11P', 'score': 0.23}]
chr4	GH04I039565	39565368	39567105	0.77	[{'connected_gene': 'SMIM14', 'score': 11.57}, {'connected_gene': 'LOC105374419', 'score': 11.57}, {'connected_gene': 'GC04M039547', 'score': 0.37}, {'connected_gene': 'UGDH-AS1', 'score': 0.28}, {'connected_gene': 'RNU7-11P', 'score': 0.23}]
chr4	GH04I039596	39596269	39599748	0.31	[{'connected_gene': 'SMIM14', 'score': 17.24}, {'connected_gene': 'LOC105374419', 'score': 11.55}, {'connected_gene': 'RNU7-11P', 'score': 0.34}, {'connected_gene': 'GC04M039547', 'score': 0.25}]
chr4	GH04I039634	39634147	39640580	2.51	[{'connected_gene': 'SMIM14', 'score': 567.55}, {'connected_gene': 'LOC105374419', 'score': 550.77}, {'connected_gene': 'ENSG00000250568', 'score': 11.0}, {'connected_gene': 'GC04P039621', 'score': 0.37}]
chr4	GH04I039633	39633410	39634091	0.4	[{'connected_gene': 'SMIM14', 'score': 0.44}, {'connected_gene': 'LOC105374419', 'score': 0.44}, {'connected_gene': 'GC04P039621', 'score': 0.39}]
chr4	GH04I039631	39631657	39633101	0.87	[{'connected_gene': 'SMIM14', 'score': 15.14}, {'connected_gene': 'LOC105374419', 'score': 0.44}, {'connected_gene': 'GC04P039621', 'score': 0.39}]
chr4	GH04I039525	39525715	39529813	2.08	[{'connected_gene': 'UGDH-AS1', 'score': 559.82}, {'connected_gene': 'UGDH', 'score': 556.97}, {'connected_gene': 'SMIM14', 'score': 12.14}, {'connected_gene': 'LOC105374419', 'score': 12.14}, {'connected_gene': 'RPL9', 'score': 4.99}, {'connected_gene': 'GC04M039495', 'score': 0.34}]
chr4	GH04I039585	39585477	39588831	0.31	[{'connected_gene': 'RNU7-11P', 'score': 13.34}, {'connected_gene': 'SMIM14', 'score': 11.53}, {'connected_gene': 'LOC105374419', 'score': 11.53}, {'connected_gene': 'RFC1', 'score': 9.88}, {'connected_gene': 'RNU6-32P', 'score': 9.87}, {'connected_gene': 'UGDH-AS1', 'score': 7.61}, {'connected_gene': 'RPL9', 'score': 5.2}, {'connected_gene': 'GC04M039547', 'score': 0.28}]
chr4	GH04I039573	39573330	39575281	0.31	[{'connected_gene': 'RNU7-11P', 'score': 12.61}, {'connected_gene': 'SMIM14', 'score': 11.59}, {'connected_gene': 'LOC105374419', 'score': 11.59}, {'connected_gene': 'GC04M039547', 'score': 0.34}, {'connected_gene': 'UGDH-AS1', 'score': 0.25}]
chr4	GH04I039548	39548761	39548810	0.57	[{'connected_gene': 'GC04M039547', 'score': 550.77}, {'connected_gene': 'SMIM14', 'score': 11.09}, {'connected_gene': 'LOC105374419', 'score': 11.09}, {'connected_gene': 'UGDH-AS1', 'score': 0.34}, {'connected_gene': 'UGDH', 'score': 0.34}]
chr4	GH04I039557	39557821	39560168	1.13	[{'connected_gene': 'GC04M039547', 'score': 0.44}, {'connected_gene': 'UGDH-AS1', 'score': 0.29}, {'connected_gene': 'RNU7-11P', 'score': 0.21}, {'connected_gene': 'SMIM14', 'score': 0.18}]