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
ENST00000477216	[[170075465, 170075644], [170077486, 170077861]]	None
ENST00000465590	[[170075472, 170075551], [170077486, 170078001]]	None
ENST00000476188	[[170075502, 170075551], [170077486, 170077664], [170078108, 170078488]]	[[170078119, 170078488]]
ENST00000259119	[[170075513, 170075551], [170077486, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170110536]]	[[170078119, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170110205]]
ENST00000426052	[[170075521, 170075551], [170077486, 170077664], [170078155, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170110735]]	[[170078179, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170110205]]
ENST00000490989	[[170076296, 170076433], [170077486, 170077948]]	None
ENST00000413427	[[170077410, 170079217], [170099031, 170099129], [170102320, 170102415], [170108010, 170108252], [170108823, 170109048], [170110046, 170110281]]	[[170078119, 170079217], [170099031, 170099129], [170102320, 170102415], [170108010, 170108252], [170108823, 170109048], [170110046, 170110205]]
ENST00000458537	[[170077410, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170114623]]	[[170078119, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170110205]]
ENST00000470571	[[170078999, 170079217], [170099031, 170099129], [170108010, 170108252], [170108823, 170108975]]	[[170078999, 170079217], [170099031, 170099129], [170108010, 170108029]]
ENST00000490894	[[170099063, 170099129], [170102320, 170102837]]	None
NM_001145098	[[170075472, 170075551], [170077486, 170077664], [170078155, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170114637]]	[[170078179, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170110205]]
NM_005414	[[170075472, 170075551], [170077486, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170114637]]	[[170078119, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170110205]]
NM_001145097	[[170077410, 170079217], [170099031, 170099129], [170102320, 170102415], [170108010, 170108252], [170108823, 170109048], [170110046, 170114637]]	[[170078119, 170079217], [170099031, 170099129], [170102320, 170102415], [170108010, 170108252], [170108823, 170109048], [170110046, 170110205]]
NM_001248008	[[170077410, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170114637]]	[[170078119, 170079217], [170099031, 170099129], [170102320, 170102553], [170108010, 170108252], [170108823, 170109048], [170110046, 170110205]]

Promoter

Chrom	Start	End	Description
chr3	170075080	170075089	CAGE_peak_7_at_SKIL_5end
chr3	170075103	170075114	CAGE_peak_5_at_SKIL_5end
chr3	170075124	170075136	CAGE_peak_4_at_SKIL_5end
chr3	170075357	170075368	CAGE_peak_3_at_SKIL_5end
chr3	170075436	170075520	CAGE_peak_1_at_SKIL_5end
chr3	170076223	170076242	CAGE_peak_6_at_SKIL_5end
chr3	170076246	170076261	CAGE_peak_8_at_SKIL_5end
chr3	170076314	170076334	CAGE_peak_2_at_SKIL_5end
chr3	170078965	170078975	CAGE_peak_23_at_SKIL_5end
chr3	170078979	170078989	CAGE_peak_24_at_SKIL_5end
chr3	170098801	170098805	CAGE_peak_12_at_SKIL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I170352	170352801	170362522	2.81	[{'connected_gene': 'SKIL', 'score': 565.52}, {'connected_gene': 'ACTRT3', 'score': 10.75}, {'connected_gene': 'ENSG00000239628', 'score': 8.32}, {'connected_gene': 'GPR160', 'score': 7.91}, {'connected_gene': 'ENSG00000242578', 'score': 6.04}]
chr3	GH03I169952	169952166	169952800	0.84	[{'connected_gene': 'SKIL', 'score': 21.09}, {'connected_gene': 'LRRC31', 'score': 11.4}, {'connected_gene': 'SAMD7', 'score': 10.46}, {'connected_gene': 'LRRIQ4', 'score': 10.43}, {'connected_gene': 'LRRC34', 'score': 10.43}, {'connected_gene': 'SEC62', 'score': 2.57}, {'connected_gene': 'ENSG00000244193', 'score': 0.44}, {'connected_gene': 'LOC100128164', 'score': 0.39}]
chr3	GH03I170307	170307619	170308449	0.81	[{'connected_gene': 'SKIL', 'score': 13.06}, {'connected_gene': 'ENSG00000242578', 'score': 11.58}, {'connected_gene': 'CLDN11', 'score': 11.57}, {'connected_gene': 'GC03P170298', 'score': 0.44}, {'connected_gene': 'ENSG00000239628', 'score': 0.28}]
chr3	GH03I170389	170389610	170393861	0.38	[{'connected_gene': 'SKIL', 'score': 16.33}, {'connected_gene': 'CLDN11', 'score': 12.47}, {'connected_gene': 'ENSG00000242578', 'score': 6.94}]
chr3	GH03I170382	170382553	170385567	0.31	[{'connected_gene': 'SKIL', 'score': 11.85}, {'connected_gene': 'ENSG00000242578', 'score': 11.65}, {'connected_gene': 'CLDN11', 'score': 11.63}]
chr3	GH03I170309	170309793	170310900	1.24	[{'connected_gene': 'SKIL', 'score': 13.06}, {'connected_gene': 'ENSG00000242578', 'score': 7.17}, {'connected_gene': 'GPR160', 'score': 5.83}, {'connected_gene': 'GC03P170298', 'score': 0.39}, {'connected_gene': 'ENSG00000239628', 'score': 0.28}]
chr3	GH03I170319	170319767	170322000	1.09	[{'connected_gene': 'SKIL', 'score': 12.35}, {'connected_gene': 'ENSG00000239628', 'score': 6.97}, {'connected_gene': 'GC03P170298', 'score': 0.34}]
chr3	GH03I170329	170329688	170331902	1.34	[{'connected_gene': 'SKIL', 'score': 12.97}, {'connected_gene': 'ENSG00000239628', 'score': 5.26}, {'connected_gene': 'GC03P170298', 'score': 0.29}]
chr3	GH03I170334	170334404	170336010	0.67	[{'connected_gene': 'SKIL', 'score': 12.99}, {'connected_gene': 'ENSG00000239628', 'score': 4.93}, {'connected_gene': 'GC03P170298', 'score': 0.28}]
chr3	GH03I170368	170367801	170368000	0.58	[{'connected_gene': 'SKIL', 'score': 0.39}, {'connected_gene': 'ENSG00000242578', 'score': 0.26}]
chr3	GH03I170374	170374103	170376052	0.2	[{'connected_gene': 'SKIL', 'score': 5.21}, {'connected_gene': 'ENSG00000242578', 'score': 0.28}]
chr3	GH03I170350	170350625	170351361	0.79	[{'connected_gene': 'SKIL', 'score': 0.44}, {'connected_gene': 'ENSG00000239628', 'score': 0.44}]
chr3	GH03I170370	170370070	170373256	0.54	[{'connected_gene': 'MYNN', 'score': 21.53}, {'connected_gene': 'SEC62-AS1', 'score': 12.37}, {'connected_gene': 'PHC3', 'score': 10.83}, {'connected_gene': 'RPL22L1', 'score': 9.97}, {'connected_gene': 'ENSG00000239628', 'score': 5.99}, {'connected_gene': 'SKIL', 'score': 5.57}, {'connected_gene': 'ENSG00000242578', 'score': 0.28}]
chr3	GH03I170367	170367201	170367400	0.69	[{'connected_gene': 'MYNN', 'score': 21.53}, {'connected_gene': 'SEC62-AS1', 'score': 12.36}, {'connected_gene': 'PHC3', 'score': 10.83}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'SKIL', 'score': 0.44}, {'connected_gene': 'ENSG00000242578', 'score': 0.26}]
chr3	GH03I170363	170363201	170364000	0.66	[{'connected_gene': 'MYNN', 'score': 21.53}, {'connected_gene': 'SEC62-AS1', 'score': 12.36}, {'connected_gene': 'PHC3', 'score': 10.83}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'SKIL', 'score': 0.44}, {'connected_gene': 'ENSG00000242578', 'score': 0.25}]
chr3	GH03I170043	170043312	170051133	1.47	[{'connected_gene': 'GPR160', 'score': 38.01}, {'connected_gene': 'SEC62', 'score': 10.96}, {'connected_gene': 'LOC100128164', 'score': 10.96}, {'connected_gene': 'LRRC34', 'score': 10.1}, {'connected_gene': 'LRRIQ4', 'score': 10.1}, {'connected_gene': 'SKIL', 'score': 7.22}, {'connected_gene': 'GC03P170058', 'score': 0.39}]
chr3	GH03I170033	170033328	170034096	1.03	[{'connected_gene': 'GPR160', 'score': 15.77}, {'connected_gene': 'RNU4-38P', 'score': 13.58}, {'connected_gene': 'SEC62', 'score': 13.03}, {'connected_gene': 'LOC100128164', 'score': 11.45}, {'connected_gene': 'LRRC31', 'score': 10.9}, {'connected_gene': 'LRRIQ4', 'score': 10.4}, {'connected_gene': 'LRRC34', 'score': 10.4}, {'connected_gene': 'SAMD7', 'score': 10.39}, {'connected_gene': 'RNU7-32P', 'score': 9.95}, {'connected_gene': 'SKIL', 'score': 7.72}, {'connected_gene': 'SEC62-AS1', 'score': 0.25}]
chr3	GH03I170376	170376234	170377724	0.2	[{'connected_gene': 'ENSG00000239628', 'score': 5.97}, {'connected_gene': 'SKIL', 'score': 5.86}, {'connected_gene': 'ENSG00000242578', 'score': 0.29}]