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
ENST00000262457	[[102861537, 102861698], [102866779, 102866909], [102888664, 102888831], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103063282]]	[[102866803, 102866909], [102888664, 102888831], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103062956]]
ENST00000541287	[[102861541, 102861698], [102866779, 102866909], [102888664, 102888831], [102894151, 102894236], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060590]]	[[102988358, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060456]]
ENST00000496467	[[102861542, 102861698], [102866779, 102866909], [102888664, 102888831], [102977682, 102977770], [102988343, 102988516]]	None
ENST00000262456	[[102861556, 102861698], [102866779, 102866909], [102888664, 102888831], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103054718], [103055228, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103063070]]	[[102866803, 102866909], [102888664, 102888831], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103054718], [103055228, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103062956]]
ENST00000374921	[[102861569, 102861698], [102866779, 102866909], [102888664, 102888831], [102891957, 102893185]]	[[102866803, 102866909], [102888664, 102888831], [102891957, 102891990]]
ENST00000466647	[[102861584, 102861698], [102866779, 102866909], [102888664, 102888831], [102977206, 102977322], [102977682, 102977770], [102988343, 102988495]]	None
ENST00000460636	[[102866820, 102866909], [102888664, 102888831], [102894151, 102894236], [102977206, 102977322], [102977682, 102977770], [102988343, 102988517], [102991941, 102992109], [103002341, 103002408]]	None
ENST00000480309	[[102861553, 102861698], [102863582, 102864299]]	None
NR_134606	[[102861466, 102861698], [102866779, 102866909], [102888664, 102888831], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054656, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103064457]]	None
NM_014425	[[102861466, 102861698], [102866779, 102866909], [102888664, 102888831], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103064457]]	[[102866803, 102866909], [102888664, 102888831], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103062956]]
NM_001318382	[[102861466, 102861698], [102866779, 102866909], [102888664, 102888831], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008886, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103064457]]	[[103008969, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103062956]]
NM_001318381	[[102861466, 102861698], [102866779, 102866909], [102888664, 102888831], [102977682, 102977770], [102988343, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103064457]]	[[102988358, 102988517], [102991941, 102992109], [103002341, 103002522], [103004851, 103004961], [103008897, 103009069], [103014564, 103014720], [103015188, 103015418], [103027103, 103027210], [103035145, 103035358], [103046601, 103046885], [103054607, 103055325], [103059198, 103059428], [103060217, 103060292], [103062849, 103062956]]

Promoter

Chrom	Start	End	Description
chr9	102861496	102861507	CAGE_peak_2_at_INVS_5end
chr9	102861515	102861592	CAGE_peak_1_at_INVS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I100421	100421134	100422241	0.67	[{'connected_gene': 'TMEFF1', 'score': 22.14}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 11.75}, {'connected_gene': 'TEX10', 'score': 10.72}, {'connected_gene': 'INVS', 'score': 5.38}, {'connected_gene': 'MSANTD3', 'score': 0.44}, {'connected_gene': 'LOC105376177', 'score': 0.2}]
chr9	GH09I099102	99102913	99108094	2.18	[{'connected_gene': 'TGFBR1', 'score': 559.61}, {'connected_gene': 'INVS', 'score': 10.07}, {'connected_gene': 'GALNT12', 'score': 4.66}, {'connected_gene': 'GC09M099146', 'score': 0.26}, {'connected_gene': 'RNA5SP290', 'score': 0.26}]
chr9	GH09I100082	100082444	100085718	1.04	[{'connected_gene': 'STX17', 'score': 17.57}, {'connected_gene': 'TEX10', 'score': 10.71}, {'connected_gene': 'INVS', 'score': 6.54}, {'connected_gene': 'ERP44', 'score': 0.39}, {'connected_gene': 'LOC105376176', 'score': 0.2}]
chr9	GH09I099905	99905880	99908269	2.02	[{'connected_gene': 'STX17', 'score': 569.59}, {'connected_gene': 'STX17-AS1', 'score': 550.77}, {'connected_gene': 'NR4A3', 'score': 10.92}, {'connected_gene': 'LOC101928438', 'score': 10.92}, {'connected_gene': 'TEX10', 'score': 10.69}, {'connected_gene': 'INVS', 'score': 6.49}, {'connected_gene': 'ENSG00000254571', 'score': 0.34}]
chr9	GH09I100196	100196308	100197632	0.69	[{'connected_gene': 'STX17', 'score': 16.51}, {'connected_gene': 'INVS', 'score': 8.06}, {'connected_gene': 'GC09P100176', 'score': 0.34}, {'connected_gene': 'GC09P100306', 'score': 0.14}]
chr9	GH09I100674	100674261	100675408	0.2	[{'connected_gene': 'PLPPR1', 'score': 5.28}, {'connected_gene': 'INVS', 'score': 4.65}, {'connected_gene': 'PIR40273', 'score': 0.44}, {'connected_gene': 'RN7SKP87', 'score': 0.16}, {'connected_gene': 'GC09M100582', 'score': 0.16}]
chr9	GH09I100332	100332487	100333844	0.2	[{'connected_gene': 'TEX10', 'score': 29.95}, {'connected_gene': 'MSANTD3', 'score': 10.17}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 10.16}, {'connected_gene': 'TMEFF1', 'score': 10.13}, {'connected_gene': 'INVS', 'score': 7.12}, {'connected_gene': 'GC09P100306', 'score': 0.31}]
chr9	GH09I100379	100379193	100380758	0.63	[{'connected_gene': 'TEX10', 'score': 21.68}, {'connected_gene': 'INVS', 'score': 6.82}, {'connected_gene': 'LOC105376177', 'score': 0.31}, {'connected_gene': 'MSANTD3', 'score': 0.25}]
chr9	GH09I100351	100351200	100353888	2.06	[{'connected_gene': 'TEX10', 'score': 604.47}, {'connected_gene': 'LOC105376177', 'score': 550.77}, {'connected_gene': 'INVS', 'score': 26.73}, {'connected_gene': 'STX17', 'score': 11.62}, {'connected_gene': 'TMEFF1', 'score': 5.6}, {'connected_gene': 'GC09P100306', 'score': 0.25}]
chr9	GH09I100168	100168402	100168657	0.78	[{'connected_gene': 'NANOGP5', 'score': 0.44}, {'connected_gene': 'GC09P100140', 'score': 0.31}, {'connected_gene': 'INVS', 'score': 0.2}]
chr9	GH09I100600	100600339	100602099	0.84	[{'connected_gene': 'CAVIN4', 'score': 18.6}, {'connected_gene': 'TMEFF1', 'score': 5.82}, {'connected_gene': 'INVS', 'score': 4.97}, {'connected_gene': 'RN7SKP87', 'score': 0.37}, {'connected_gene': 'GC09M100582', 'score': 0.37}, {'connected_gene': 'PIR40273', 'score': 0.18}]
chr9	GH09I099301	99301786	99302688	0.86	[{'connected_gene': 'KRT8P11', 'score': 25.66}, {'connected_gene': 'INVS', 'score': 13.18}, {'connected_gene': 'STX17', 'score': 11.6}, {'connected_gene': 'RN7SKP225', 'score': 0.37}]
chr9	GH09I100066	100066398	100067159	0.72	[{'connected_gene': 'INVS', 'score': 19.38}, {'connected_gene': 'STX17', 'score': 17.06}, {'connected_gene': 'ERP44', 'score': 11.94}, {'connected_gene': 'RN7SL75P', 'score': 11.92}, {'connected_gene': 'LOC105376176', 'score': 0.23}]
chr9	GH09I100213	100213379	100214434	0.63	[{'connected_gene': 'INVS', 'score': 17.93}, {'connected_gene': 'STX17', 'score': 16.5}, {'connected_gene': 'RN7SL75P', 'score': 10.88}, {'connected_gene': 'ERP44', 'score': 10.88}, {'connected_gene': 'NR4A3', 'score': 10.16}, {'connected_gene': 'LOC101928438', 'score': 10.16}, {'connected_gene': 'MSANTD3', 'score': 8.86}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 8.86}, {'connected_gene': 'TMEFF1', 'score': 8.85}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.16}]
chr9	GH09I100209	100209739	100210788	0.94	[{'connected_gene': 'INVS', 'score': 17.83}, {'connected_gene': 'STX17', 'score': 15.41}, {'connected_gene': 'RN7SL75P', 'score': 11.4}, {'connected_gene': 'ERP44', 'score': 11.4}, {'connected_gene': 'NR4A3', 'score': 10.33}, {'connected_gene': 'LOC101928438', 'score': 10.32}, {'connected_gene': 'MSANTD3', 'score': 9.82}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 9.81}, {'connected_gene': 'TMEFF1', 'score': 9.81}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.15}]
chr9	GH09I100211	100211266	100212839	0.2	[{'connected_gene': 'INVS', 'score': 17.93}, {'connected_gene': 'STX17', 'score': 16.26}, {'connected_gene': 'RN7SL75P', 'score': 10.88}, {'connected_gene': 'ERP44', 'score': 10.88}, {'connected_gene': 'NR4A3', 'score': 10.16}, {'connected_gene': 'LOC101928438', 'score': 10.16}, {'connected_gene': 'MSANTD3', 'score': 8.86}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 8.86}, {'connected_gene': 'TMEFF1', 'score': 8.85}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.16}]
chr9	GH09I100144	100144781	100146768	1.09	[{'connected_gene': 'INVS', 'score': 22.36}, {'connected_gene': 'STX17', 'score': 15.62}, {'connected_gene': 'RN7SL75P', 'score': 11.6}, {'connected_gene': 'ERP44', 'score': 11.58}, {'connected_gene': 'GC09P100140', 'score': 0.44}, {'connected_gene': 'NANOGP5', 'score': 0.31}]
chr9	GH09I100097	100097452	100100560	2.04	[{'connected_gene': 'INVS', 'score': 561.25}, {'connected_gene': 'ERP44', 'score': 550.77}, {'connected_gene': 'STX17', 'score': 17.37}, {'connected_gene': 'LOC105376176', 'score': 0.18}]
chr9	GH09I100064	100064395	100065994	0.46	[{'connected_gene': 'INVS', 'score': 18.75}, {'connected_gene': 'ERP44', 'score': 11.94}, {'connected_gene': 'RN7SL75P', 'score': 11.92}, {'connected_gene': 'LOC105376176', 'score': 0.25}]
chr9	GH09I099231	99231879	99232008	0.6	[{'connected_gene': 'INVS', 'score': 10.26}, {'connected_gene': 'ERP44', 'score': 10.26}, {'connected_gene': 'RN7SL75P', 'score': 10.26}, {'connected_gene': 'GC09M099229', 'score': 0.77}, {'connected_gene': 'GC09P099237', 'score': 0.44}]
chr9	GH09I099257	99257443	99260858	1.5	[{'connected_gene': 'INVS', 'score': 13.18}, {'connected_gene': 'SEC61B', 'score': 11.84}, {'connected_gene': 'ALG2', 'score': 11.84}, {'connected_gene': 'STX17', 'score': 11.6}, {'connected_gene': 'KRT8P11', 'score': 4.86}, {'connected_gene': 'GC09P099237', 'score': 0.34}, {'connected_gene': 'RN7SKP225', 'score': 0.34}]
chr9	GH09I100131	100131359	100131448	0.2	[{'connected_gene': 'RN7SL75P', 'score': 12.55}, {'connected_gene': 'INVS', 'score': 12.53}, {'connected_gene': 'ERP44', 'score': 12.53}, {'connected_gene': 'GC09P100140', 'score': 0.44}, {'connected_gene': 'ENSG00000270995', 'score': 0.39}]
chr9	GH09I100216	100216279	100216468	0.62	[{'connected_gene': 'RN7SL75P', 'score': 11.49}, {'connected_gene': 'INVS', 'score': 11.48}, {'connected_gene': 'ERP44', 'score': 11.48}, {'connected_gene': 'GC09P100176', 'score': 0.26}, {'connected_gene': 'GC09P100306', 'score': 0.17}]
chr9	GH09I100102	100102589	100102648	0.5	[{'connected_gene': 'RN7SL75P', 'score': 550.77}, {'connected_gene': 'INVS', 'score': 550.77}, {'connected_gene': 'RPS2P35', 'score': 0.37}]
chr9	GH09I100214	100213217	100213311	0.2	[{'connected_gene': 'RN7SL75P', 'score': 10.88}, {'connected_gene': 'ERP44', 'score': 10.88}, {'connected_gene': 'INVS', 'score': 10.88}, {'connected_gene': 'NR4A3', 'score': 10.16}, {'connected_gene': 'LOC101928438', 'score': 10.16}, {'connected_gene': 'MSANTD3', 'score': 8.86}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 8.86}, {'connected_gene': 'TMEFF1', 'score': 8.85}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.16}]
chr9	GH09I100110	100110829	100112317	0.6	[{'connected_gene': 'RN7SL75P', 'score': 0.44}, {'connected_gene': 'RPS2P35', 'score': 0.44}, {'connected_gene': 'INVS', 'score': 0.39}]
chr9	GH09I100139	100139694	100140817	0.2	[{'connected_gene': 'GC09P100140', 'score': 550.77}, {'connected_gene': 'INVS', 'score': 7.37}, {'connected_gene': 'ENSG00000270995', 'score': 0.37}]