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

Promoter

Chrom	Start	End	Description
chr11	70244624	70244696	CAGE_peak_1_at_CTTN_5end
chr11	70263174	70263191	CAGE_peak_3_at_CTTN_5end
chr11	70267592	70267603	CAGE_peak_15_at_CTTN_5end
chr11	70267636	70267651	CAGE_peak_7_at_CTTN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I070242	70242646	70246866	0.76	[{'connected_gene': 'PPFIA1', 'score': 18.58}, {'connected_gene': 'FADD', 'score': 17.3}, {'connected_gene': 'ENSG00000254721', 'score': 11.57}, {'connected_gene': 'LOC105369373', 'score': 11.0}, {'connected_gene': 'ANO1-AS1', 'score': 10.47}, {'connected_gene': 'CTTN', 'score': 10.45}, {'connected_gene': 'ENSG00000246889', 'score': 10.45}, {'connected_gene': 'GC11M070237', 'score': 0.44}, {'connected_gene': 'GC11P070255', 'score': 0.39}]
chr11	GH11I070232	70232899	70234612	1.19	[{'connected_gene': 'PPFIA1', 'score': 17.42}, {'connected_gene': 'CTTN', 'score': 15.9}, {'connected_gene': 'FADD', 'score': 14.25}, {'connected_gene': 'ENSG00000254721', 'score': 11.61}, {'connected_gene': 'LOC105369373', 'score': 10.98}, {'connected_gene': 'ANO1-AS1', 'score': 10.49}, {'connected_gene': 'ENSG00000246889', 'score': 10.44}, {'connected_gene': 'ANO1', 'score': 1.52}, {'connected_gene': 'GC11M070237', 'score': 0.77}, {'connected_gene': 'PIR45158', 'score': 0.34}, {'connected_gene': 'GC11P070210', 'score': 0.34}]
chr11	GH11I070332	70332943	70333925	0.43	[{'connected_gene': 'PPFIA1', 'score': 50.66}, {'connected_gene': 'ENSG00000254495', 'score': 11.63}, {'connected_gene': 'CTTN', 'score': 11.5}, {'connected_gene': 'ENSG00000246889', 'score': 11.49}, {'connected_gene': 'GC11M070315', 'score': 0.77}, {'connected_gene': 'ENSG00000254604', 'score': 0.31}, {'connected_gene': 'GC11P070297', 'score': 0.28}]
chr11	GH11I070311	70311492	70316400	1.34	[{'connected_gene': 'PPFIA1', 'score': 9.96}, {'connected_gene': 'CTTN', 'score': 6.37}, {'connected_gene': 'ENSG00000254484', 'score': 0.44}, {'connected_gene': 'GC11M070315', 'score': 0.37}, {'connected_gene': 'GC11P070297', 'score': 0.37}, {'connected_gene': 'ENSG00000254604', 'score': 0.25}]
chr11	GH11I070423	70423513	70424778	0.86	[{'connected_gene': 'PPFIA1', 'score': 17.21}, {'connected_gene': 'CTTN', 'score': 9.39}, {'connected_gene': 'GC11P070444', 'score': 0.34}, {'connected_gene': 'ENSG00000246889', 'score': 0.31}]
chr11	GH11I070413	70413158	70414066	0.31	[{'connected_gene': 'PPFIA1', 'score': 10.88}, {'connected_gene': 'ENSG00000246889', 'score': 0.37}, {'connected_gene': 'CTTN', 'score': 0.37}, {'connected_gene': 'GC11P070444', 'score': 0.29}]
chr11	GH11I070390	70390518	70390783	0.2	[{'connected_gene': 'PPFIA1', 'score': 8.21}, {'connected_gene': 'ENSG00000246889', 'score': 0.44}, {'connected_gene': 'CTTN', 'score': 0.44}, {'connected_gene': 'ENSG00000254604', 'score': 0.31}]
chr11	GH11I070381	70381397	70383996	0.62	[{'connected_gene': 'PPFIA1', 'score': 41.65}, {'connected_gene': 'ENSG00000246889', 'score': 0.37}, {'connected_gene': 'CTTN', 'score': 0.37}, {'connected_gene': 'ENSG00000254604', 'score': 0.37}]
chr11	GH11I070414	70414374	70416411	0.8	[{'connected_gene': 'PPFIA1', 'score': 28.34}, {'connected_gene': 'LOC105369373', 'score': 11.22}, {'connected_gene': 'ENSG00000254721', 'score': 10.93}, {'connected_gene': 'FADD', 'score': 10.93}, {'connected_gene': 'ENSG00000254495', 'score': 10.79}, {'connected_gene': 'CTTN', 'score': 10.03}, {'connected_gene': 'ENSG00000246889', 'score': 0.37}, {'connected_gene': 'GC11P070444', 'score': 0.31}]
chr11	GH11I070101	70101614	70110059	0.7	[{'connected_gene': 'ORAOV1', 'score': 14.19}, {'connected_gene': 'CTTN', 'score': 12.54}, {'connected_gene': 'ANO1', 'score': 6.43}, {'connected_gene': 'FGF4', 'score': 4.97}, {'connected_gene': 'ENSG00000255143', 'score': 0.34}]
chr11	GH11I070419	70419417	70421502	0.98	[{'connected_gene': 'CTTN', 'score': 9.51}, {'connected_gene': 'FADD', 'score': 4.89}, {'connected_gene': 'ENSG00000246889', 'score': 0.34}, {'connected_gene': 'GC11P070444', 'score': 0.34}]
chr11	GH11I070396	70396956	70401200	2.35	[{'connected_gene': 'CTTN', 'score': 561.05}, {'connected_gene': 'ENSG00000246889', 'score': 550.77}, {'connected_gene': 'PPFIA1', 'score': 46.9}, {'connected_gene': 'FADD', 'score': 1.98}, {'connected_gene': 'ANO1', 'score': 1.71}, {'connected_gene': 'GC11P070444', 'score': 0.25}]
chr11	GH11I070405	70405216	70405275	0.5	[{'connected_gene': 'CTTN', 'score': 550.44}, {'connected_gene': 'ENSG00000246889', 'score': 0.44}, {'connected_gene': 'GC11P070444', 'score': 0.28}]
chr11	GH11I070646	70646396	70646740	0.62	[{'connected_gene': 'SHANK2-AS2', 'score': 550.77}, {'connected_gene': 'ORAOV1', 'score': 47.31}, {'connected_gene': 'NADSYN1', 'score': 22.82}, {'connected_gene': 'FADD', 'score': 11.79}, {'connected_gene': 'CTTN', 'score': 10.59}, {'connected_gene': 'ENSG00000254495', 'score': 10.33}, {'connected_gene': 'GC11M070662', 'score': 0.37}, {'connected_gene': 'SHANK2', 'score': 0.03}]
chr11	GH11I070154	70154965	70161060	1.04	[{'connected_gene': 'ANO1-AS1', 'score': 11.49}, {'connected_gene': 'FGF4', 'score': 9.83}, {'connected_gene': 'ANO1', 'score': 7.38}, {'connected_gene': 'PPFIA1', 'score': 2.05}, {'connected_gene': 'CTTN', 'score': 1.85}, {'connected_gene': 'FADD', 'score': 1.5}, {'connected_gene': 'GC11P070167', 'score': 0.44}, {'connected_gene': 'LOC105369372', 'score': 0.37}]
chr11	GH11I070364	70364617	70365784	0.69	[{'connected_gene': 'ENSG00000254604', 'score': 550.77}, {'connected_gene': 'PPFIA1', 'score': 59.71}, {'connected_gene': 'ENSG00000246889', 'score': 12.13}, {'connected_gene': 'CTTN', 'score': 12.13}, {'connected_gene': 'GC11P070297', 'score': 0.2}]
chr11	GH11I070385	70384095	70384264	0.2	[{'connected_gene': 'ENSG00000246889', 'score': 0.39}, {'connected_gene': 'CTTN', 'score': 0.39}, {'connected_gene': 'ENSG00000254604', 'score': 0.34}, {'connected_gene': 'PPFIA1', 'score': 0.14}]
chr11	GH11I070384	70384355	70384504	0.2	[{'connected_gene': 'ENSG00000246889', 'score': 0.39}, {'connected_gene': 'CTTN', 'score': 0.39}, {'connected_gene': 'ENSG00000254604', 'score': 0.34}, {'connected_gene': 'PPFIA1', 'score': 0.14}]
chr11	GH11I070352	70352155	70352633	0.46	[{'connected_gene': 'ENSG00000246889', 'score': 11.26}, {'connected_gene': 'CTTN', 'score': 11.26}, {'connected_gene': 'LOC105369373', 'score': 11.25}, {'connected_gene': 'PPFIA1', 'score': 11.09}, {'connected_gene': 'ENSG00000254495', 'score': 0.44}, {'connected_gene': 'ENSG00000254604', 'score': 0.39}, {'connected_gene': 'GC11M070315', 'score': 0.34}, {'connected_gene': 'GC11P070297', 'score': 0.22}]
chr11	GH11I070389	70389935	70390184	0.2	[{'connected_gene': 'ENSG00000246889', 'score': 0.44}, {'connected_gene': 'CTTN', 'score': 0.44}, {'connected_gene': 'ENSG00000254604', 'score': 0.31}]
chr11	GH11I070391	70391075	70391164	0.2	[{'connected_gene': 'ENSG00000246889', 'score': 0.44}, {'connected_gene': 'CTTN', 'score': 0.44}, {'connected_gene': 'ENSG00000254604', 'score': 0.31}]
chr11	GH11I070386	70386389	70386704	0.22	[{'connected_gene': 'ENSG00000246889', 'score': 0.39}, {'connected_gene': 'CTTN', 'score': 0.39}, {'connected_gene': 'ENSG00000254604', 'score': 0.34}]
chr11	GH11I070392	70389689	70389928	0.2	[{'connected_gene': 'ENSG00000246889', 'score': 0.44}, {'connected_gene': 'CTTN', 'score': 0.44}, {'connected_gene': 'ENSG00000254604', 'score': 0.31}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000346329	[[70244509, 70244720], [70251370, 70251467], [70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70282690]]	[[70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281268]]
ENST00000301843	[[70244611, 70244720], [70251370, 70251467], [70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70267575, 70267686], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70282681]]	[[70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70267575, 70267686], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281268]]
ENST00000527622	[[70244642, 70244720], [70251370, 70251467], [70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70256405, 70256536]]	None
ENST00000376561	[[70244646, 70244720], [70251370, 70251467], [70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281225], [70281571, 70281850], [70282387, 70282685]]	[[70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281225], [70281571, 70281850], [70282387, 70282514]]
ENST00000415461	[[70253458, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70266359]]	[[70253458, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70266009]]
ENST00000482755	[[70244642, 70244720], [70251370, 70251467], [70253403, 70253490], [70253623, 70254448]]	None
ENST00000525276	[[70260716, 70260758], [70261768, 70262310]]	None
ENST00000532334	[[70262845, 70263229], [70265851, 70265948]]	None
ENST00000527962	[[70266230, 70266616], [70269045, 70269101], [70271437, 70271507], [70275156, 70275231]]	[[70269092, 70269101], [70271437, 70271507], [70275156, 70275231]]
ENST00000483662	[[70266328, 70266616], [70267575, 70268023]]	None
ENST00000498223	[[70266491, 70266616], [70268614, 70268737], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305]]	[[70269092, 70269101], [70271437, 70271507], [70275156, 70275305]]
ENST00000538675	[[70266599, 70266616], [70268614, 70268698], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281225], [70281571, 70282087]]	[[70269092, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281225], [70281571, 70281854]]
ENST00000525852	[[70267701, 70269101], [70271437, 70271507]]	None
ENST00000393747	[[70268608, 70268698], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281225], [70281571, 70282087]]	[[70268608, 70268698], [70269045, 70269101], [70271437, 70271507], [70275156, 70275159]]
ENST00000529736	[[70275158, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281225], [70281571, 70281661], [70282387, 70282668]]	[[70275158, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281225], [70281571, 70281661], [70282387, 70282514]]
ENST00000533931	[[70275227, 70275305], [70277296, 70277386], [70279206, 70279384], [70279730, 70279824], [70281131, 70281258]]	[[70275227, 70275305], [70277296, 70277386], [70279206, 70279384], [70279730, 70279771]]
NM_001184740	[[70244611, 70244720], [70251370, 70251467], [70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281225], [70281571, 70281850], [70282387, 70282690]]	[[70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281225], [70281571, 70281850], [70282387, 70282514]]
NM_138565	[[70244611, 70244720], [70251370, 70251467], [70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70282690]]	[[70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281268]]
NM_005231	[[70244611, 70244720], [70251370, 70251467], [70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70267575, 70267686], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70282690]]	[[70253403, 70253490], [70253623, 70253697], [70255936, 70256066], [70260647, 70260758], [70261768, 70261823], [70263118, 70263229], [70265851, 70265962], [70266505, 70266616], [70267575, 70267686], [70269045, 70269101], [70271437, 70271507], [70275156, 70275305], [70277296, 70277386], [70279206, 70279384], [70279752, 70279824], [70281131, 70281268]]