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
ENST00000392491	[[122793075, 122793186], [122798995, 122799084], [122907065, 122907152], [122954427, 122954512], [122996222, 122996289], [123038931, 123039108], [123046272, 123047035]]	[[123038939, 123039108], [123046272, 123046340]]
ENST00000607474	[[122793078, 122793186], [122798995, 122799084], [122803043, 122803101], [122803291, 122803411], [122814366, 122814620]]	None
ENST00000608895	[[122793123, 122793186], [122798995, 122799084], [122803043, 122803101], [122803291, 122803411], [122906637, 122906698], [122907065, 122907269]]	None
ENST00000368452	[[122931376, 122931680], [122954427, 122954512], [122996222, 122996289], [123038931, 123039108], [123046272, 123047037]]	[[123038939, 123039108], [123046272, 123046340]]
ENST00000368448	[[122931376, 122931680], [122954427, 122954512], [122996222, 122996289], [123022206, 123022369], [123038931, 123039108], [123046272, 123047037]]	[[123038939, 123039108], [123046272, 123046340]]
ENST00000392490	[[122931376, 122931680], [122954427, 122954512], [123038931, 123039108], [123046272, 123047517]]	[[123038939, 123039108], [123046272, 123046340]]
ENST00000258014	[[122973876, 122973920], [122996222, 122996289], [123022584, 123022645], [123038931, 123039108], [123046272, 123047518]]	[[123022632, 123022645], [123038931, 123039108], [123046272, 123046340]]
ENST00000354275	[[123038705, 123038806], [123038931, 123039108], [123046272, 123047037]]	[[123038939, 123039108], [123046272, 123046340]]
ENST00000368446	[[123038706, 123039108], [123046272, 123046426]]	[[123038912, 123039108], [123046272, 123046340]]
NM_181794	[[122793061, 122793186], [122798995, 122799084], [122907065, 122907152], [122954427, 122954512], [122996222, 122996289], [123038931, 123039108], [123046272, 123047518]]	[[123038939, 123039108], [123046272, 123046340]]
NM_001270394	[[122793061, 122793186], [122798995, 122799084], [122907065, 122907152], [122954427, 122954512], [122996222, 122996289], [123022584, 123022645], [123038931, 123039108], [123046272, 123047518]]	[[123022632, 123022645], [123038931, 123039108], [123046272, 123046340]]
NM_001270393	[[122793061, 122793186], [122798995, 122799084], [122803291, 122803411], [122907065, 122907152], [122954427, 122954512], [122996222, 122996289], [123038931, 123039108], [123046272, 123047518]]	[[123038939, 123039108], [123046272, 123046340]]
NM_032471	[[122931376, 122931680], [122954427, 122954512], [123038931, 123039108], [123046272, 123047518]]	[[123038939, 123039108], [123046272, 123046340]]
NM_181795	[[122931376, 122931680], [122954427, 122954512], [122996222, 122996289], [123038931, 123039108], [123046272, 123047518]]	[[123038939, 123039108], [123046272, 123046340]]
NM_001270395	[[122973873, 122973920], [122996222, 122996289], [123022584, 123022645], [123038931, 123039108], [123046272, 123047518]]	[[123022632, 123022645], [123038931, 123039108], [123046272, 123046340]]

Promoter

Chrom	Start	End	Description
chr6	122792640	122792654	CAGE_peak_10_at_PKIB_5end
chr6	122793058	122793087	CAGE_peak_3_at_PKIB_5end
chr6	122931230	122931252	CAGE_peak_7_at_PKIB_5end
chr6	122931313	122931328	CAGE_peak_6_at_PKIB_5end
chr6	122931366	122931383	CAGE_peak_5_at_PKIB_5end
chr6	122931536	122931556	CAGE_peak_1_at_PKIB_5end
chr6	122931571	122931582	CAGE_peak_4_at_PKIB_5end
chr6	123038689	123038700	CAGE_peak_8_at_PKIB_5end
chr6	123038724	123038774	CAGE_peak_2_at_PKIB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I122644	122644821	122646438	0.43	[{'connected_gene': 'SERINC1', 'score': 10.49}, {'connected_gene': 'PKIB', 'score': 5.02}, {'connected_gene': 'ENSG00000272472', 'score': 0.77}, {'connected_gene': 'RN7SL564P', 'score': 0.15}]
chr6	GH06I122620	122620516	122622116	0.71	[{'connected_gene': 'SERINC1', 'score': 10.94}, {'connected_gene': 'ENSG00000272472', 'score': 0.34}, {'connected_gene': 'PIR47029', 'score': 0.31}, {'connected_gene': 'PKIB', 'score': 0.11}]
chr6	GH06I122609	122609390	122611990	1.93	[{'connected_gene': 'PKIB', 'score': 550.12}, {'connected_gene': 'SERINC1', 'score': 10.97}, {'connected_gene': 'HSF2', 'score': 6.2}, {'connected_gene': 'SMPDL3A', 'score': 4.42}, {'connected_gene': 'PIR47029', 'score': 0.39}, {'connected_gene': 'ENSG00000272472', 'score': 0.29}]
chr6	GH06I122470	122470000	122472764	2.21	[{'connected_gene': 'PKIB', 'score': 555.79}, {'connected_gene': 'ENSG00000279114', 'score': 550.77}, {'connected_gene': 'SERINC1', 'score': 550.77}, {'connected_gene': 'HSF2', 'score': 18.04}, {'connected_gene': 'ENSG00000275339', 'score': 0.37}]
chr6	GH06I122670	122670854	122675511	0.79	[{'connected_gene': 'PKIB', 'score': 6.22}, {'connected_gene': 'SMPDL3A', 'score': 4.6}, {'connected_gene': 'ENSG00000272472', 'score': 0.31}, {'connected_gene': 'RN7SL564P', 'score': 0.19}]
chr6	GH06I122650	122650810	122654593	1.32	[{'connected_gene': 'PKIB', 'score': 554.91}, {'connected_gene': 'SMPDL3A', 'score': 9.84}, {'connected_gene': 'ENSG00000272472', 'score': 0.44}, {'connected_gene': 'RN7SL564P', 'score': 0.16}]
chr6	GH06I122640	122640496	122640645	0.31	[{'connected_gene': 'PKIB', 'score': 5.07}, {'connected_gene': 'ENSG00000272472', 'score': 0.77}, {'connected_gene': 'PIR47029', 'score': 0.26}]
chr6	GH06I122448	122448525	122448812	0.34	[{'connected_gene': 'HSF2', 'score': 6.83}, {'connected_gene': 'PKIB', 'score': 1.54}, {'connected_gene': 'ENSG00000279453', 'score': 0.44}, {'connected_gene': 'ENSG00000275339', 'score': 0.44}, {'connected_gene': 'SERINC1', 'score': 0.34}]
chr6	GH06I122446	122446843	122448075	0.31	[{'connected_gene': 'HSF2', 'score': 11.54}, {'connected_gene': 'PKIB', 'score': 5.35}, {'connected_gene': 'ENSG00000279453', 'score': 0.44}, {'connected_gene': 'ENSG00000275339', 'score': 0.44}, {'connected_gene': 'SERINC1', 'score': 0.34}]
chr6	GH06I122455	122455491	122465430	0.64	[{'connected_gene': 'HSF2', 'score': 18.08}, {'connected_gene': 'PKIB', 'score': 5.46}, {'connected_gene': 'ENSG00000275339', 'score': 0.44}, {'connected_gene': 'SERINC1', 'score': 0.39}]
chr6	GH06I122398	122398588	122401001	1.98	[{'connected_gene': 'HSF2', 'score': 569.75}, {'connected_gene': 'PKIB', 'score': 5.11}, {'connected_gene': 'ENSG00000279453', 'score': 0.28}]
chr6	GH06I122770	122770683	122771400	1.1	[{'connected_gene': 'FABP7', 'score': 8.98}, {'connected_gene': 'PKIB', 'score': 2.86}, {'connected_gene': 'SMPDL3A', 'score': 2.82}, {'connected_gene': 'RN7SL564P', 'score': 0.31}]
chr6	GH06I122772	122772141	122773611	0.62	[{'connected_gene': 'FABP7', 'score': 8.85}, {'connected_gene': 'PKIB', 'score': 5.31}, {'connected_gene': 'RN7SL564P', 'score': 0.31}]
chr6	GH06I122832	122832776	122833585	0.88	[{'connected_gene': 'FABP7', 'score': 12.67}, {'connected_gene': 'SMPDL3A', 'score': 11.22}, {'connected_gene': 'PKIB', 'score': 4.35}, {'connected_gene': 'SERINC1', 'score': 3.86}, {'connected_gene': 'CLVS2', 'score': 2.3}, {'connected_gene': 'GC06M122861', 'score': 0.31}]
chr6	GH06I122759	122759099	122759387	0.54	[{'connected_gene': 'SMPDL3A', 'score': 15.05}, {'connected_gene': 'SERINC1', 'score': 1.69}, {'connected_gene': 'PKIB', 'score': 1.45}, {'connected_gene': 'RN7SL564P', 'score': 0.39}, {'connected_gene': 'FABP7', 'score': 0.34}]
chr6	GH06I122694	122694841	122698622	0.79	[{'connected_gene': 'SMPDL3A', 'score': 10.66}, {'connected_gene': 'PKIB', 'score': 8.31}, {'connected_gene': 'RN7SL564P', 'score': 0.25}, {'connected_gene': 'ENSG00000272472', 'score': 0.23}]
chr6	GH06I122717	122717321	122718018	0.4	[{'connected_gene': 'SMPDL3A', 'score': 10.28}, {'connected_gene': 'PKIB', 'score': 6.56}, {'connected_gene': 'RN7SL564P', 'score': 0.31}, {'connected_gene': 'ENSG00000272472', 'score': 0.19}]
chr6	GH06I122711	122711820	122713651	1.05	[{'connected_gene': 'SMPDL3A', 'score': 10.32}, {'connected_gene': 'PKIB', 'score': 7.68}, {'connected_gene': 'RN7SL564P', 'score': 0.29}, {'connected_gene': 'ENSG00000272472', 'score': 0.2}]
chr6	GH06I122710	122710600	122710800	0.54	[{'connected_gene': 'SMPDL3A', 'score': 10.32}, {'connected_gene': 'PKIB', 'score': 6.86}, {'connected_gene': 'RN7SL564P', 'score': 0.29}, {'connected_gene': 'ENSG00000272472', 'score': 0.2}]
chr6	GH06I122712	122710200	122710401	0.99	[{'connected_gene': 'SMPDL3A', 'score': 10.32}, {'connected_gene': 'PKIB', 'score': 8.72}, {'connected_gene': 'TRDN', 'score': 4.28}, {'connected_gene': 'RN7SL564P', 'score': 0.29}, {'connected_gene': 'ENSG00000272472', 'score': 0.2}]
chr6	GH06I122787	122787482	122793922	2.55	[{'connected_gene': 'SMPDL3A', 'score': 559.7}, {'connected_gene': 'PKIB', 'score': 3.12}, {'connected_gene': 'GC06M122861', 'score': 0.2}]
chr6	GH06I122735	122735150	122736991	0.78	[{'connected_gene': 'SMPDL3A', 'score': 16.34}, {'connected_gene': 'FABP7', 'score': 4.84}, {'connected_gene': 'PKIB', 'score': 4.08}, {'connected_gene': 'RN7SL564P', 'score': 0.44}, {'connected_gene': 'ENSG00000272472', 'score': 0.16}]
chr6	GH06I122530	122530596	122530705	0.65	[{'connected_gene': 'ENSG00000277408', 'score': 550.77}, {'connected_gene': 'SERINC1', 'score': 11.63}, {'connected_gene': 'PKIB', 'score': 0.22}, {'connected_gene': 'ENSG00000279114', 'score': 0.22}]
chr6	GH06I122569	122569076	122569225	0.52	[{'connected_gene': 'PIR47029', 'score': 0.31}, {'connected_gene': 'ENSG00000277408', 'score': 0.28}, {'connected_gene': 'PKIB', 'score': 0.15}]
chr6	GH06I122691	122691686	122692849	0.85	[{'connected_gene': 'ENSG00000272472', 'score': 0.25}, {'connected_gene': 'RN7SL564P', 'score': 0.23}, {'connected_gene': 'PKIB', 'score': 0.07}]