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
ENST00000325748	[[179296140, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315138], [179315692, 179315958]]	[[179296823, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315138], [179315692, 179315757]]
ENST00000490501	[[179296141, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308734]]	None
ENST00000424699	[[179296380, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179310152, 179310262], [179312231, 179312313], [179314968, 179315138], [179315692, 179315878]]	[[179310261, 179310262], [179312231, 179312313], [179314968, 179315138], [179315692, 179315757]]
ENST00000438687	[[179296380, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179310152, 179310262], [179312231, 179312313], [179314968, 179315138], [179315692, 179315878]]	[[179296823, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309205]]
ENST00000487082	[[179296692, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315138], [179315288, 179315491]]	[[179296823, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315128]]
ENST00000432031	[[179296702, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315484]]	[[179296823, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315170]]
ENST00000474793	[[179301000, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179310152, 179310610]]	None
ENST00000448279	[[179308015, 179308111], [179309148, 179309227], [179312182, 179312313], [179314968, 179315211]]	[[179312227, 179312313], [179314968, 179315170]]
ENST00000457633	[[179308069, 179308111], [179312231, 179312313], [179314968, 179315786]]	[[179308069, 179308111], [179312231, 179312313], [179314968, 179315170]]
ENST00000470200	[[179310152, 179310262], [179312231, 179312313], [179314968, 179315138], [179315692, 179315748], [179316107, 179316239]]	None
ENST00000460433	[[179310221, 179310262], [179312231, 179312313], [179314968, 179315138], [179315288, 179315456]]	None
ENST00000466165	[[179312046, 179312313], [179314968, 179315138], [179315692, 179315840]]	None
ENST00000463882	[[179314805, 179315138], [179315692, 179315900]]	None
NM_001139518	[[179296140, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315138], [179315288, 179315355]]	[[179296823, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315128]]
NM_001139517	[[179296140, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315484]]	[[179296823, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315170]]
NM_003690	[[179296140, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315138], [179315692, 179315958]]	[[179296823, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179312231, 179312313], [179314968, 179315138], [179315692, 179315757]]
NM_001316362	[[179296140, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309227], [179310152, 179310262], [179312231, 179312313], [179314968, 179315138], [179315692, 179315967]]	[[179296823, 179296981], [179300871, 179301046], [179306336, 179306431], [179307993, 179308111], [179309148, 179309205]]

Promoter

Chrom	Start	End	Description
chr2	179315418	179315449	CAGE_peak_3_at_PRKRA_5end
chr2	179315453	179315479	CAGE_peak_2_at_PRKRA_5end
chr2	179315490	179315510	CAGE_peak_6_at_PRKRA_5end
chr2	179315588	179315596	CAGE_peak_10_at_PRKRA_5end
chr2	179315814	179315936	CAGE_peak_1_at_PRKRA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I178781	178781995	178783184	0.52	[{'connected_gene': 'PRKRA', 'score': 5.67}, {'connected_gene': 'LOC101927055', 'score': 0.44}, {'connected_gene': 'LOC105373766', 'score': 0.26}, {'connected_gene': 'TTN', 'score': 0.25}]
chr2	GH02I178862	178862835	178866266	1.02	[{'connected_gene': 'TTN', 'score': 11.53}, {'connected_gene': 'RNU7-104P', 'score': 11.53}, {'connected_gene': 'CCDC141', 'score': 7.55}, {'connected_gene': 'PRKRA', 'score': 6.97}, {'connected_gene': 'LOC105373766', 'score': 0.28}, {'connected_gene': 'GC02P178916', 'score': 0.23}]
chr2	GH02I178882	178882582	178883472	0.51	[{'connected_gene': 'TTN', 'score': 10.16}, {'connected_gene': 'RNU7-104P', 'score': 10.16}, {'connected_gene': 'CCDC141', 'score': 9.0}, {'connected_gene': 'PRKRA', 'score': 5.6}, {'connected_gene': 'ENSG00000270574', 'score': 4.25}, {'connected_gene': 'GC02P178916', 'score': 0.29}, {'connected_gene': 'LOC105373766', 'score': 0.22}]
chr2	GH02I178477	178477400	178481695	2.08	[{'connected_gene': 'FKBP7', 'score': 569.51}, {'connected_gene': 'PLEKHA3', 'score': 550.77}, {'connected_gene': 'PJVK', 'score': 11.7}, {'connected_gene': 'PRKRA', 'score': 11.7}, {'connected_gene': 'LOC101927027', 'score': 6.51}, {'connected_gene': 'NUDCP2', 'score': 0.34}]
chr2	GH02I178438	178438395	178439548	0.38	[{'connected_gene': 'FKBP7', 'score': 29.25}, {'connected_gene': 'PLEKHA3', 'score': 11.12}, {'connected_gene': 'ENSG00000237477', 'score': 4.58}, {'connected_gene': 'PJVK', 'score': 0.39}, {'connected_gene': 'PRKRA', 'score': 0.39}, {'connected_gene': 'LOC101927027', 'score': 0.31}]
chr2	GH02I178428	178428010	178429043	0.92	[{'connected_gene': 'FKBP7', 'score': 17.24}, {'connected_gene': 'PJVK', 'score': 11.68}, {'connected_gene': 'PRKRA', 'score': 11.68}, {'connected_gene': 'LOC101927027', 'score': 6.21}]
chr2	GH02I178448	178448986	178452658	2.28	[{'connected_gene': 'PJVK', 'score': 550.77}, {'connected_gene': 'PRKRA', 'score': 550.77}, {'connected_gene': 'FKBP7', 'score': 32.19}, {'connected_gene': 'PLEKHA3', 'score': 13.16}, {'connected_gene': 'ENSG00000270574', 'score': 11.34}, {'connected_gene': 'ENSG00000237477', 'score': 4.74}, {'connected_gene': 'LOC101927027', 'score': 4.24}]
chr2	GH02I178412	178412905	178415582	1.61	[{'connected_gene': 'LOC101927027', 'score': 565.27}, {'connected_gene': 'FKBP7', 'score': 31.99}, {'connected_gene': 'PLEKHA3', 'score': 23.9}, {'connected_gene': 'PJVK', 'score': 11.46}, {'connected_gene': 'PRKRA', 'score': 11.46}, {'connected_gene': 'RBM45', 'score': 9.97}]
chr2	GH02I178484	178484401	178485011	0.86	[{'connected_gene': 'LOC101927027', 'score': 68.07}, {'connected_gene': 'RBM45', 'score': 56.28}, {'connected_gene': 'NUDCP2', 'score': 33.44}, {'connected_gene': 'ENSG00000271401', 'score': 24.53}, {'connected_gene': 'PJVK', 'score': 23.32}, {'connected_gene': 'PLEKHA3', 'score': 22.56}, {'connected_gene': 'FKBP7', 'score': 16.84}, {'connected_gene': 'TTC30A', 'score': 13.44}, {'connected_gene': 'PRKRA', 'score': 11.68}, {'connected_gene': 'TTN-AS1', 'score': 0.28}]