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
ENST00000374647	[[111629796, 111631462], [111637174, 111637250], [111640274, 111640429], [111640902, 111641030], [111641725, 111641837], [111642331, 111642445], [111643984, 111644045], [111644404, 111644467], [111651611, 111651673], [111653482, 111653684], [111655265, 111655363], [111656222, 111656346], [111658775, 111658924], [111659232, 111659318], [111659427, 111659565], [111660781, 111660861], [111660950, 111661029], [111662101, 111662175], [111662539, 111662655], [111663704, 111663810], [111663907, 111663961], [111665118, 111665222], [111665842, 111665949], [111668582, 111668765], [111670584, 111670684], [111673289, 111673460], [111674543, 111674774], [111678483, 111678577], [111679826, 111679950], [111681090, 111681181], [111681532, 111681629], [111685121, 111685207], [111688802, 111688883], [111689651, 111689733], [111692048, 111692201], [111693276, 111693481], [111696143, 111696396]]	[[111631394, 111631462], [111637174, 111637250], [111640274, 111640429], [111640902, 111641030], [111641725, 111641837], [111642331, 111642445], [111643984, 111644045], [111644404, 111644467], [111651611, 111651673], [111653482, 111653684], [111655265, 111655363], [111656222, 111656346], [111658775, 111658924], [111659232, 111659318], [111659427, 111659565], [111660781, 111660861], [111660950, 111661029], [111662101, 111662175], [111662539, 111662655], [111663704, 111663810], [111663907, 111663961], [111665118, 111665222], [111665842, 111665949], [111668582, 111668765], [111670584, 111670684], [111673289, 111673460], [111674543, 111674774], [111678483, 111678577], [111679826, 111679950], [111681090, 111681181], [111681532, 111681629], [111685121, 111685207], [111688802, 111688883], [111689651, 111689733], [111692048, 111692201], [111693276, 111693426]]
ENST00000537196	[[111630920, 111631462], [111637174, 111637250], [111640274, 111640429], [111640902, 111641030], [111641725, 111641837], [111642331, 111642445], [111643984, 111644045], [111644404, 111644467], [111651611, 111651673], [111653482, 111653684], [111655265, 111655363], [111656222, 111656346], [111658775, 111658924], [111659232, 111659318], [111659427, 111659565], [111660781, 111660861], [111660950, 111661029], [111662101, 111662175], [111662539, 111662655], [111663704, 111663810], [111663907, 111663961], [111665118, 111665222], [111665842, 111665949], [111668582, 111668765], [111670584, 111670684], [111673289, 111673460], [111674543, 111674774], [111678483, 111678577], [111679826, 111679950], [111696143, 111696233]]	[[111631394, 111631462], [111637174, 111637250], [111640274, 111640429], [111640902, 111641030], [111641725, 111641837], [111642331, 111642445], [111643984, 111644045], [111644404, 111644467], [111651611, 111651673], [111653482, 111653684], [111655265, 111655363], [111656222, 111656346], [111658775, 111658924], [111659232, 111659318], [111659427, 111659565], [111660781, 111660861], [111660950, 111661029], [111662101, 111662175], [111662539, 111662655], [111663704, 111663810], [111663907, 111663961], [111665118, 111665222], [111665842, 111665949], [111668582, 111668765], [111670584, 111670684], [111673289, 111673460], [111674543, 111674685]]
ENST00000495759	[[111629796, 111631462], [111637174, 111637250], [111637912, 111638015], [111640274, 111640429], [111640902, 111641030], [111641725, 111641837], [111642331, 111642445], [111643984, 111644045], [111644404, 111644467], [111651611, 111651673], [111653482, 111653684], [111655265, 111655363]]	[[111637970, 111638015], [111640274, 111640429], [111640902, 111641030], [111641725, 111641837], [111642331, 111642445], [111643984, 111644045], [111644404, 111644467], [111651611, 111651673], [111653482, 111653684], [111655265, 111655363]]
ENST00000467959	[[111641740, 111641837], [111642331, 111642445], [111643984, 111644045], [111644404, 111644467], [111651611, 111651673], [111651924, 111651964]]	None

Promoter

Chrom	Start	End	Description
chr9	111696207	111696218	CAGE_peak_5_at_IKBKAP_5end
chr9	111696224	111696261	CAGE_peak_2_at_IKBKAP_5end
chr9	111696328	111696339	CAGE_peak_3_at_IKBKAP_5end
chr9	111696340	111696421	CAGE_peak_1_at_IKBKAP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I108883	108882374	108890463	0.98	[{'connected_gene': 'CTNNAL1', 'score': 19.8}, {'connected_gene': 'ELP1', 'score': 16.38}, {'connected_gene': 'FRRS1L', 'score': 16.34}, {'connected_gene': 'ACTL7A', 'score': 12.26}, {'connected_gene': 'ACTL7B', 'score': 11.69}, {'connected_gene': 'FAM206A', 'score': 11.2}, {'connected_gene': 'EPB41L4B', 'score': 9.82}, {'connected_gene': 'TMEM245', 'score': 8.29}, {'connected_gene': 'RPL31P43', 'score': 4.62}]
chr9	GH09I109143	109143735	109144464	1.04	[{'connected_gene': 'CTNNAL1', 'score': 20.82}, {'connected_gene': 'ELP1', 'score': 11.93}, {'connected_gene': 'GC09M109131', 'score': 0.44}, {'connected_gene': 'GC09M109159', 'score': 0.37}, {'connected_gene': 'FRRS1L', 'score': 0.34}]
chr9	GH09I109148	109148800	109150449	0.38	[{'connected_gene': 'CTNNAL1', 'score': 16.8}, {'connected_gene': 'ELP1', 'score': 11.86}, {'connected_gene': 'TMEM245', 'score': 8.99}, {'connected_gene': 'FRRS1L', 'score': 8.6}, {'connected_gene': 'GC09M109131', 'score': 0.39}, {'connected_gene': 'GC09M109159', 'score': 0.39}]
chr9	GH09I109123	109123766	109124476	0.69	[{'connected_gene': 'CTNNAL1', 'score': 23.09}, {'connected_gene': 'ELP1', 'score': 11.77}, {'connected_gene': 'TMEM245', 'score': 0.77}, {'connected_gene': 'GC09M109131', 'score': 0.39}]
chr9	GH09I109122	109122671	109123699	1.33	[{'connected_gene': 'CTNNAL1', 'score': 23.11}, {'connected_gene': 'ELP1', 'score': 8.15}, {'connected_gene': 'TMEM245', 'score': 0.77}, {'connected_gene': 'GC09M109131', 'score': 0.39}]
chr9	GH09I108783	108783001	108784452	0.69	[{'connected_gene': 'CTNNAL1', 'score': 7.13}, {'connected_gene': 'ELP1', 'score': 4.8}, {'connected_gene': 'RPL36AP35', 'score': 0.28}, {'connected_gene': 'PIR55739', 'score': 0.28}]
chr9	GH09I109106	109106792	109112434	1.6	[{'connected_gene': 'CTNNAL1', 'score': 29.19}, {'connected_gene': 'FRRS1L', 'score': 28.85}, {'connected_gene': 'ELP1', 'score': 25.05}, {'connected_gene': 'MIR32', 'score': 9.99}, {'connected_gene': 'ENSG00000199331', 'score': 9.99}, {'connected_gene': 'TMEM245', 'score': 0.39}, {'connected_gene': 'GC09M109081', 'score': 0.31}]
chr9	GH09I109010	109010118	109015498	1.99	[{'connected_gene': 'CTNNAL1', 'score': 575.69}, {'connected_gene': 'GC09M109014', 'score': 550.77}, {'connected_gene': 'PIR44811', 'score': 550.77}, {'connected_gene': 'FRRS1L', 'score': 26.86}, {'connected_gene': 'ELP1', 'score': 25.93}, {'connected_gene': 'TMEM245', 'score': 20.44}, {'connected_gene': 'ENSG00000199331', 'score': 11.06}, {'connected_gene': 'MIR32', 'score': 11.05}]
chr9	GH09I108868	108868772	108870323	0.87	[{'connected_gene': 'CTNNAL1', 'score': 13.97}, {'connected_gene': 'FRRS1L', 'score': 9.99}, {'connected_gene': 'ACTL7A', 'score': 0.44}, {'connected_gene': 'FAM206A', 'score': 0.21}, {'connected_gene': 'ELP1', 'score': 0.21}]
chr9	GH09I109091	109091556	109094052	0.46	[{'connected_gene': 'CTNNAL1', 'score': 25.26}, {'connected_gene': 'TMEM245', 'score': 23.63}, {'connected_gene': 'FAM206A', 'score': 10.78}, {'connected_gene': 'ELP1', 'score': 10.78}, {'connected_gene': 'MIR32', 'score': 10.57}, {'connected_gene': 'ENSG00000199331', 'score': 10.56}, {'connected_gene': 'GC09M109081', 'score': 0.44}]
chr9	GH09I108971	108971873	108974770	0.2	[{'connected_gene': 'CTNNAL1', 'score': 32.42}, {'connected_gene': 'ACTL7B', 'score': 10.12}, {'connected_gene': 'EPB41L4B', 'score': 9.38}, {'connected_gene': 'LOC105376216', 'score': 0.39}, {'connected_gene': 'ELP1', 'score': 0.28}]
chr9	GH09I108963	108963270	108964065	0.84	[{'connected_gene': 'CTNNAL1', 'score': 24.45}, {'connected_gene': 'LOC105376216', 'score': 0.34}, {'connected_gene': 'ELP1', 'score': 0.31}]
chr9	GH09I109096	109096644	109103151	1.32	[{'connected_gene': 'ELP1', 'score': 45.48}, {'connected_gene': 'CTNNAL1', 'score': 34.93}, {'connected_gene': 'FRRS1L', 'score': 28.81}, {'connected_gene': 'TMEM245', 'score': 23.59}, {'connected_gene': 'FAM206A', 'score': 10.78}, {'connected_gene': 'MIR32', 'score': 10.69}, {'connected_gene': 'ENSG00000199331', 'score': 10.68}, {'connected_gene': 'GC09M109081', 'score': 0.37}]
chr9	GH09I109035	109035088	109037689	1.08	[{'connected_gene': 'ELP1', 'score': 26.86}, {'connected_gene': 'CTNNAL1', 'score': 20.73}, {'connected_gene': 'TMEM245', 'score': 10.02}, {'connected_gene': 'ENSG00000199331', 'score': 0.44}, {'connected_gene': 'GC09M109043', 'score': 0.44}, {'connected_gene': 'PIR41041', 'score': 0.37}]
chr9	GH09I108931	108931882	108935385	2.06	[{'connected_gene': 'ELP1', 'score': 579.36}, {'connected_gene': 'FAM206A', 'score': 550.77}, {'connected_gene': 'FRRS1L', 'score': 21.97}, {'connected_gene': 'CTNNAL1', 'score': 14.15}, {'connected_gene': 'ACTL7A', 'score': 0.19}]
chr9	GH09I109150	109150729	109151502	0.43	[{'connected_gene': 'ELP1', 'score': 11.89}, {'connected_gene': 'TMEM245', 'score': 10.96}, {'connected_gene': 'RNU6-984P', 'score': 10.23}, {'connected_gene': 'EPB41L4B', 'score': 9.66}, {'connected_gene': 'FRRS1L', 'score': 6.13}, {'connected_gene': 'GC09M109159', 'score': 0.44}, {'connected_gene': 'GC09M109131', 'score': 0.37}]
chr9	GH09I109452	109452451	109454516	1.09	[{'connected_gene': 'ELP1', 'score': 10.99}, {'connected_gene': 'RNU6-984P', 'score': 9.64}, {'connected_gene': 'PTPN3', 'score': 7.85}, {'connected_gene': 'GC09P109498', 'score': 0.26}, {'connected_gene': 'ENSG00000207329', 'score': 0.13}]
chr9	GH09I108786	108786445	108788570	1.03	[{'connected_gene': 'ELP1', 'score': 4.81}, {'connected_gene': 'RPL36AP35', 'score': 0.29}, {'connected_gene': 'PIR55739', 'score': 0.26}]
chr9	GH09I108784	108784601	108785201	0.38	[{'connected_gene': 'ELP1', 'score': 4.51}, {'connected_gene': 'RPL36AP35', 'score': 0.28}, {'connected_gene': 'PIR55739', 'score': 0.28}]
chr9	GH09I108141	108141701	108143683	0.72	[{'connected_gene': 'ELP1', 'score': 11.82}, {'connected_gene': 'GC09P108154', 'score': 0.39}, {'connected_gene': 'CHCHD4P2', 'score': 0.26}, {'connected_gene': 'LOC105376214', 'score': 0.06}]
chr9	GH09I109295	109295042	109295950	0.69	[{'connected_gene': 'EPB41L4B', 'score': 12.13}, {'connected_gene': 'ELP1', 'score': 11.85}, {'connected_gene': 'RNU6-984P', 'score': 10.74}, {'connected_gene': 'MTND2P11', 'score': 0.77}, {'connected_gene': 'GC09M109197', 'score': 0.15}]
chr9	GH09I108997	108997124	108997465	0.22	[{'connected_gene': 'MIR32', 'score': 10.35}, {'connected_gene': 'ENSG00000199331', 'score': 10.35}, {'connected_gene': 'TMEM245', 'score': 9.32}, {'connected_gene': 'ELP1', 'score': 5.29}, {'connected_gene': 'RNA5-8SP3', 'score': 0.77}, {'connected_gene': 'LOC105376216', 'score': 0.39}, {'connected_gene': 'GC09M109014', 'score': 0.37}, {'connected_gene': 'PIR44811', 'score': 0.37}, {'connected_gene': 'CTNNAL1', 'score': 0.34}]
chr9	GH09I109000	109000901	109001977	0.69	[{'connected_gene': 'MIR32', 'score': 10.37}, {'connected_gene': 'ENSG00000199331', 'score': 10.37}, {'connected_gene': 'TMEM245', 'score': 9.32}, {'connected_gene': 'ELP1', 'score': 5.34}, {'connected_gene': 'RNA5-8SP3', 'score': 0.44}, {'connected_gene': 'GC09M109014', 'score': 0.39}, {'connected_gene': 'PIR44811', 'score': 0.39}, {'connected_gene': 'LOC105376216', 'score': 0.37}, {'connected_gene': 'CTNNAL1', 'score': 0.37}]
chr9	GH09I109064	109064252	109066357	0.62	[{'connected_gene': 'FRRS1L', 'score': 27.99}, {'connected_gene': 'ELP1', 'score': 22.23}, {'connected_gene': 'ENSG00000199331', 'score': 12.33}, {'connected_gene': 'TMEM245', 'score': 10.7}, {'connected_gene': 'CTNNAL1', 'score': 9.9}, {'connected_gene': 'ACTL7B', 'score': 9.68}, {'connected_gene': 'MIR32', 'score': 0.37}, {'connected_gene': 'GC09M109081', 'score': 0.37}]
chr9	GH09I109113	109113001	109122010	2.72	[{'connected_gene': 'TMEM245', 'score': 565.89}, {'connected_gene': 'FRRS1L', 'score': 29.15}, {'connected_gene': 'ELP1', 'score': 25.45}, {'connected_gene': 'CTNNAL1', 'score': 25.02}, {'connected_gene': 'MIR32', 'score': 9.98}, {'connected_gene': 'ENSG00000199331', 'score': 9.97}, {'connected_gene': 'FAM206A', 'score': 4.79}, {'connected_gene': 'GC09M109081', 'score': 0.29}]
chr9	GH09I108882	108882161	108882310	0.38	[{'connected_gene': 'ACTL7A', 'score': 11.65}, {'connected_gene': 'FAM206A', 'score': 0.23}, {'connected_gene': 'ELP1', 'score': 0.23}]
chr9	GH09I109161	109161893	109164176	0.46	[{'connected_gene': 'GC09M109160', 'score': 550.77}, {'connected_gene': 'FRRS1L', 'score': 12.04}, {'connected_gene': 'TMEM245', 'score': 11.8}, {'connected_gene': 'ELP1', 'score': 5.76}]