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
ENST00000309964	[[56294069, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348995], [56355540, 56355632], [56376078, 56376194]]	[[56301581, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348952]]
ENST00000381322	[[56300989, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348995], [56352559, 56352716], [56355540, 56355632], [56376078, 56376232], [56411619, 56412099]]	[[56301581, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348952]]
ENST00000513440	[[56301188, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348995], [56355540, 56355632], [56376078, 56376232], [56412948, 56413305]]	[[56301581, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348952]]
ENST00000506747	[[56319926, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348995], [56355540, 56355632], [56376078, 56376233]]	None
ENST00000435527	[[56329864, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348995], [56355540, 56355632], [56412648, 56412713]]	[[56329864, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348952]]
ENST00000506923	[[56345013, 56345130], [56345806, 56345866], [56348905, 56348995], [56352559, 56352716], [56355540, 56355632], [56412948, 56413048]]	None
ENST00000509151	[[56348939, 56348995], [56355540, 56355632], [56376078, 56376232], [56412648, 56412822]]	None
ENST00000513033	[[56352560, 56352716], [56355540, 56355632], [56376078, 56376232], [56412648, 56412813]]	None
ENST00000511124	[[56298642, 56301761], [56304448, 56304574], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315593]]	None
ENST00000479384	[[56308444, 56308801], [56309853, 56309922]]	None
ENST00000508049	[[56336910, 56336973], [56342129, 56342221], [56344981, 56345227]]	None
NM_001267843	[[56294067, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348995], [56352559, 56352716], [56355540, 56355632], [56376078, 56376232], [56411619, 56412099]]	[[56301581, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348952]]
NM_004898	[[56294067, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348995], [56355540, 56355632], [56376078, 56376232], [56412948, 56413076]]	[[56301581, 56301761], [56304448, 56304704], [56308598, 56308801], [56309853, 56310063], [56310799, 56310952], [56314945, 56315035], [56315562, 56315663], [56316257, 56316399], [56319220, 56319296], [56319843, 56319991], [56322063, 56322170], [56322384, 56322467], [56325058, 56325177], [56325314, 56325428], [56329851, 56329972], [56336883, 56336973], [56342129, 56342221], [56344981, 56345130], [56345806, 56345866], [56348905, 56348952]]

Promoter

Chrom	Start	End	Description
chr4	56412767	56412799	CAGE_peak_3_at_CLOCK_5end
chr4	56412978	56413003	CAGE_peak_1_at_CLOCK_5end
chr4	56413032	56413056	CAGE_peak_2_at_CLOCK_5end
chr4	56413067	56413086	CAGE_peak_4_at_CLOCK_5end
chr4	56413104	56413117	CAGE_peak_5_at_CLOCK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I055409	55409094	55410044	0.87	[{'connected_gene': 'CLOCK', 'score': 11.0}, {'connected_gene': 'GC04P055413', 'score': 0.77}, {'connected_gene': 'TMEM165', 'score': 0.39}, {'connected_gene': 'GC04P055398', 'score': 0.39}]
chr4	GH04I055447	55447201	55447400	0.2	[{'connected_gene': 'CLOCK', 'score': 10.74}, {'connected_gene': 'NMU', 'score': 9.98}, {'connected_gene': 'TMEM165', 'score': 9.24}, {'connected_gene': 'PIR52615', 'score': 0.37}, {'connected_gene': 'GC04M055433', 'score': 0.37}, {'connected_gene': 'ENSG00000238585', 'score': 0.23}, {'connected_gene': 'GC04M055502', 'score': 0.23}]
chr4	GH04I055543	55543989	55548764	2.06	[{'connected_gene': 'CLOCK', 'score': 559.76}, {'connected_gene': 'ENSG00000272969', 'score': 558.14}, {'connected_gene': 'RN7SKP30', 'score': 46.4}, {'connected_gene': 'TMEM165', 'score': 28.16}, {'connected_gene': 'CEP135', 'score': 14.64}, {'connected_gene': 'AASDH', 'score': 13.03}, {'connected_gene': 'SRP72', 'score': 12.42}, {'connected_gene': 'NMU', 'score': 10.55}, {'connected_gene': 'SRD5A3', 'score': 7.48}]
chr4	GH04I055509	55509965	55510024	0.5	[{'connected_gene': 'CLOCK', 'score': 550.28}, {'connected_gene': 'ENSG00000238585', 'score': 0.44}, {'connected_gene': 'GC04M055502', 'score': 0.44}, {'connected_gene': 'RN7SKP30', 'score': 0.29}]
chr4	GH04I055475	55475514	55475663	0.38	[{'connected_gene': 'CLOCK', 'score': 9.17}, {'connected_gene': 'ENSG00000238585', 'score': 0.31}, {'connected_gene': 'GC04M055502', 'score': 0.31}, {'connected_gene': 'PIR52615', 'score': 0.26}, {'connected_gene': 'GC04M055433', 'score': 0.26}]
chr4	GH04I055489	55489407	55489466	0.5	[{'connected_gene': 'CLOCK', 'score': 570.49}, {'connected_gene': 'ENSG00000238585', 'score': 0.39}, {'connected_gene': 'GC04M055502', 'score': 0.39}, {'connected_gene': 'PIR52615', 'score': 0.22}, {'connected_gene': 'GC04M055433', 'score': 0.22}]
chr4	GH04I055368	55368747	55374908	0.2	[{'connected_gene': 'SRD5A3', 'score': 22.28}, {'connected_gene': 'CLOCK', 'score': 19.67}, {'connected_gene': 'TMEM165', 'score': 9.95}, {'connected_gene': 'ENSG00000272969', 'score': 8.57}, {'connected_gene': 'SRD5A3-AS1', 'score': 4.8}, {'connected_gene': 'LOC105377659', 'score': 0.44}, {'connected_gene': 'PIR32131', 'score': 0.37}]
chr4	GH04I056048	56048401	56050765	1.4	[{'connected_gene': 'KIAA1211', 'score': 564.59}, {'connected_gene': 'ENSG00000269921', 'score': 16.04}, {'connected_gene': 'ENSG00000270147', 'score': 13.15}, {'connected_gene': 'ENSG00000272969', 'score': 13.02}, {'connected_gene': 'CLOCK', 'score': 10.07}, {'connected_gene': 'GC04P056007', 'score': 0.26}, {'connected_gene': 'RNA5SP161', 'score': 0.25}]
chr4	GH04I055348	55348281	55348850	0.43	[{'connected_gene': 'TMEM165', 'score': 14.71}, {'connected_gene': 'CLOCK', 'score': 10.18}, {'connected_gene': 'SRD5A3', 'score': 0.77}, {'connected_gene': 'FCF1P8', 'score': 0.77}]
chr4	GH04I055442	55442213	55443226	0.2	[{'connected_gene': 'TMEM165', 'score': 28.74}, {'connected_gene': 'PIR52615', 'score': 0.39}, {'connected_gene': 'GC04M055433', 'score': 0.39}, {'connected_gene': 'ENSG00000238585', 'score': 0.22}, {'connected_gene': 'GC04M055502', 'score': 0.22}, {'connected_gene': 'CLOCK', 'score': 0.15}]
chr4	GH04I055553	55553001	55554200	0.69	[{'connected_gene': 'TMEM165', 'score': 28.16}, {'connected_gene': 'NMU', 'score': 10.07}, {'connected_gene': 'CLOCK', 'score': 9.41}, {'connected_gene': 'PDCL2', 'score': 0.28}]
chr4	GH04I055548	55548897	55551176	0.74	[{'connected_gene': 'TMEM165', 'score': 27.82}, {'connected_gene': 'NMU', 'score': 20.46}, {'connected_gene': 'CLOCK', 'score': 9.77}, {'connected_gene': 'ENSG00000272969', 'score': 8.08}, {'connected_gene': 'SRD5A3-AS1', 'score': 7.54}, {'connected_gene': 'PDCL2', 'score': 0.26}]
chr4	GH04I055434	55434594	55435954	0.57	[{'connected_gene': 'TMEM165', 'score': 28.83}, {'connected_gene': 'NMU', 'score': 9.98}, {'connected_gene': 'CLOCK', 'score': 9.25}, {'connected_gene': 'PIR52615', 'score': 0.77}, {'connected_gene': 'GC04M055433', 'score': 0.77}, {'connected_gene': 'ENSG00000238585', 'score': 0.2}, {'connected_gene': 'GC04M055502', 'score': 0.2}]
chr4	GH04I055394	55394962	55399618	2.27	[{'connected_gene': 'TMEM165', 'score': 567.86}, {'connected_gene': 'GC04P055398', 'score': 550.77}, {'connected_gene': 'SRD5A3-AS1', 'score': 550.77}, {'connected_gene': 'CEP135', 'score': 20.49}, {'connected_gene': 'RN7SKP30', 'score': 16.57}, {'connected_gene': 'CLOCK', 'score': 15.14}, {'connected_gene': 'AASDH', 'score': 12.28}, {'connected_gene': 'SRD5A3', 'score': 11.84}, {'connected_gene': 'NMU', 'score': 9.93}, {'connected_gene': 'ENSG00000272969', 'score': 7.53}]
chr4	GH04I055357	55357974	55360002	1.17	[{'connected_gene': 'TMEM165', 'score': 16.01}, {'connected_gene': 'SRD5A3-AS1', 'score': 12.96}, {'connected_gene': 'NMU', 'score': 7.7}, {'connected_gene': 'CLOCK', 'score': 4.42}, {'connected_gene': 'PIR32131', 'score': 0.44}, {'connected_gene': 'SRD5A3', 'score': 0.39}, {'connected_gene': 'LOC105377659', 'score': 0.37}]
chr4	GH04I055592	55592137	55592196	0.79	[{'connected_gene': 'PDCL2', 'score': 550.77}, {'connected_gene': 'NMU', 'score': 17.07}, {'connected_gene': 'CLOCK', 'score': 0.25}]
chr4	GH04I055436	55436932	55439699	1.04	[{'connected_gene': 'RN7SKP30', 'score': 34.99}, {'connected_gene': 'TMEM165', 'score': 28.8}, {'connected_gene': 'CLOCK', 'score': 19.85}, {'connected_gene': 'SRD5A3-AS1', 'score': 12.26}, {'connected_gene': 'PIR52615', 'score': 0.44}, {'connected_gene': 'GC04M055433', 'score': 0.44}, {'connected_gene': 'ENSG00000238585', 'score': 0.21}, {'connected_gene': 'GC04M055502', 'score': 0.21}]
chr4	GH04I055445	55445301	55447019	0.38	[{'connected_gene': 'RN7SKP30', 'score': 30.67}, {'connected_gene': 'TMEM165', 'score': 29.09}, {'connected_gene': 'CLOCK', 'score': 19.9}, {'connected_gene': 'PIR52615', 'score': 0.39}, {'connected_gene': 'GC04M055433', 'score': 0.39}, {'connected_gene': 'ENSG00000238585', 'score': 0.22}, {'connected_gene': 'GC04M055502', 'score': 0.22}]
chr4	GH04I055376	55376642	55378408	0.38	[{'connected_gene': 'LOC105377659', 'score': 550.77}, {'connected_gene': 'ENSG00000272969', 'score': 9.3}, {'connected_gene': 'CLOCK', 'score': 7.6}, {'connected_gene': 'SRD5A3-AS1', 'score': 0.37}, {'connected_gene': 'PIR32131', 'score': 0.34}]
chr4	GH04I055378	55378649	55379823	0.66	[{'connected_gene': 'LOC105377659', 'score': 550.77}, {'connected_gene': 'TMEM165', 'score': 10.33}, {'connected_gene': 'NMU', 'score': 9.08}, {'connected_gene': 'CLOCK', 'score': 8.15}, {'connected_gene': 'ENSG00000273257', 'score': 0.44}, {'connected_gene': 'SRD5A3-AS1', 'score': 0.37}]
chr4	GH04I055502	55502859	55503958	0.59	[{'connected_gene': 'ENSG00000238585', 'score': 550.77}, {'connected_gene': 'GC04M055502', 'score': 550.77}, {'connected_gene': 'NMU', 'score': 10.01}, {'connected_gene': 'CLOCK', 'score': 9.24}, {'connected_gene': 'RN7SKP30', 'score': 0.28}]