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
ENST00000322776	[[67374322, 67374547], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379977]]	[[67374475, 67374547], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379929]]
ENST00000532303	[[67374370, 67374547], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67380005]]	[[67376170, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379929]]
ENST00000532244	[[67374397, 67374547], [67375870, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378053]]	[[67376170, 67376193], [67376922, 67377106], [67377851, 67378053]]
ENST00000528328	[[67374403, 67374547], [67374836, 67374967], [67375870, 67375949], [67376022, 67376145]]	[[67374942, 67374967], [67375870, 67375949], [67376022, 67376145]]
ENST00000529927	[[67374410, 67374520], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379999]]	[[67374475, 67374520], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379929]]
ENST00000524876	[[67374414, 67374547], [67374836, 67375087], [67375866, 67375949], [67376022, 67376139]]	None
ENST00000524838	[[67374414, 67374547], [67375870, 67375949], [67376022, 67376193], [67376922, 67377739]]	None
ENST00000532343	[[67374414, 67374520], [67375870, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67377931]]	[[67376170, 67376193], [67376922, 67377106], [67377851, 67377931]]
ENST00000415352	[[67374414, 67374526], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67380006]]	[[67374475, 67374526], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379929]]
ENST00000528548	[[67374424, 67374547], [67374769, 67375087], [67375866, 67375949], [67376022, 67376077]]	None
ENST00000532260	[[67374428, 67374967], [67375870, 67375905]]	None
ENST00000530014	[[67374428, 67374795], [67375866, 67375949], [67376022, 67376193], [67376922, 67377067]]	None
ENST00000530103	[[67374428, 67374547], [67374769, 67374795], [67375866, 67375949], [67376022, 67376193], [67376922, 67377067]]	[[67374475, 67374547], [67374769, 67374795], [67375866, 67375900]]
ENST00000525086	[[67374428, 67374547], [67375866, 67375949], [67376022, 67376193], [67376896, 67377098]]	None
ENST00000534139	[[67374428, 67374547], [67375870, 67376193], [67376922, 67377106]]	None
ENST00000533075	[[67374428, 67374547], [67375866, 67375928], [67376022, 67376193], [67376922, 67377106], [67377851, 67377897]]	[[67374475, 67374547], [67375866, 67375928], [67376022, 67376193], [67376922, 67377106], [67377851, 67377897]]
ENST00000529867	[[67374428, 67374547], [67375902, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67377912]]	[[67374475, 67374547], [67375902, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67377912]]
ENST00000526138	[[67374431, 67374547], [67374769, 67375087], [67375866, 67375989]]	None
ENST00000530638	[[67374431, 67374547], [67375870, 67375949], [67376030, 67376193], [67376922, 67377106], [67377851, 67377891]]	[[67375903, 67375949], [67376030, 67376193], [67376922, 67377106], [67377851, 67377891]]
ENST00000528314	[[67375696, 67375949], [67376022, 67376193], [67376922, 67377057]]	[[67376170, 67376193], [67376922, 67377057]]
ENST00000528377	[[67375696, 67376193], [67376922, 67377323]]	None
ENST00000526770	[[67376008, 67376193], [67376922, 67377106], [67377851, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379999]]	None
ENST00000526169	[[67376125, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378992, 67379040], [67379367, 67379438]]	None
ENST00000533919	[[67377863, 67378041], [67378465, 67378678], [67378947, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379904]]	[[67377863, 67378041], [67378465, 67378678], [67378947, 67378958]]
ENST00000527355	[[67378476, 67378678], [67378873, 67379040], [67379590, 67379736], [67379842, 67380006]]	[[67378476, 67378678], [67378873, 67379040], [67379590, 67379605]]
ENST00000527923	[[67378618, 67379040], [67379367, 67379449], [67379590, 67379680]]	None
ENST00000531250	[[67379023, 67379449], [67379590, 67379736], [67379842, 67380006]]	None
ENST00000534352	[[67379189, 67379736], [67379842, 67379868]]	None
NM_001166102	[[67374322, 67374520], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67380012]]	[[67374475, 67374520], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379929]]
NM_007103	[[67374322, 67374547], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67380012]]	[[67374475, 67374547], [67375866, 67375949], [67376022, 67376193], [67376922, 67377106], [67377851, 67378041], [67378465, 67378678], [67378873, 67379040], [67379367, 67379449], [67379590, 67379736], [67379842, 67379929]]

Promoter

Chrom	Start	End	Description
chr11	67374365	67374437	CAGE_peak_1_at_NDUFV1_5end
chr11	67377936	67377955	CAGE_peak_2_at_NDUFV1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I067684	67684761	67687735	0.2	[{'connected_gene': 'ACY3', 'score': 5.05}, {'connected_gene': 'NDUFV1', 'score': 4.28}, {'connected_gene': 'GC11M067683', 'score': 0.77}, {'connected_gene': 'GC11M067684', 'score': 0.77}, {'connected_gene': 'GC11P067694', 'score': 0.44}]
chr11	GH11I067560	67560925	67564843	1.34	[{'connected_gene': 'PTPRCAP', 'score': 24.9}, {'connected_gene': 'AIP', 'score': 17.07}, {'connected_gene': 'KMT5B', 'score': 16.02}, {'connected_gene': 'NDUFV1', 'score': 15.88}, {'connected_gene': 'ENSG00000258297', 'score': 14.98}, {'connected_gene': 'PPP6R3', 'score': 14.64}, {'connected_gene': 'RBM14', 'score': 13.24}, {'connected_gene': 'CABP2', 'score': 11.76}, {'connected_gene': 'C11orf72', 'score': 11.73}, {'connected_gene': 'ENSG00000255119', 'score': 11.73}, {'connected_gene': 'DOC2GP', 'score': 11.7}, {'connected_gene': 'NUDT8', 'score': 11.32}, {'connected_gene': 'TBX10', 'score': 11.3}, {'connected_gene': 'ACY3', 'score': 11.11}, {'connected_gene': 'ENSG00000227834', 'score': 11.1}, {'connected_gene': 'RBM4', 'score': 9.95}, {'connected_gene': 'ALDH3B2', 'score': 6.11}, {'connected_gene': 'CDK2AP2', 'score': 4.69}, {'connected_gene': 'GC11M067541', 'score': 0.34}, {'connected_gene': 'GSTP1', 'score': 0.34}]
chr11	GH11I067557	67557530	67560270	1.4	[{'connected_gene': 'PTPRCAP', 'score': 25.85}, {'connected_gene': 'ALDH3B2', 'score': 6.11}, {'connected_gene': 'NDUFV1', 'score': 4.4}, {'connected_gene': 'NUDT8', 'score': 4.17}, {'connected_gene': 'CDK2AP2', 'score': 2.51}, {'connected_gene': 'GC11M067541', 'score': 0.37}, {'connected_gene': 'GSTP1', 'score': 0.34}]
chr11	GH11I067572	67572290	67573729	1.35	[{'connected_gene': 'NDUFV1', 'score': 16.2}, {'connected_gene': 'RBM14', 'score': 13.36}, {'connected_gene': 'RBM4B', 'score': 12.61}, {'connected_gene': 'C11orf72', 'score': 12.05}, {'connected_gene': 'ENSG00000255119', 'score': 12.05}, {'connected_gene': 'DOC2GP', 'score': 12.01}, {'connected_gene': 'NUDT8', 'score': 11.98}, {'connected_gene': 'TBX10', 'score': 11.97}, {'connected_gene': 'KDM2A', 'score': 11.67}, {'connected_gene': 'PPP6R3', 'score': 11.64}, {'connected_gene': 'AIP', 'score': 11.55}, {'connected_gene': 'ACY3', 'score': 11.13}, {'connected_gene': 'ENSG00000227834', 'score': 11.12}, {'connected_gene': 'RBM4', 'score': 10.24}, {'connected_gene': 'KMT5B', 'score': 10.06}, {'connected_gene': 'ALDH3B2', 'score': 6.12}, {'connected_gene': 'GSTP1', 'score': 0.39}, {'connected_gene': 'GC11M067541', 'score': 0.29}]
chr11	GH11I067579	67579219	67589454	2.46	[{'connected_gene': 'GSTP1', 'score': 550.77}, {'connected_gene': 'ENSG00000255119', 'score': 39.0}, {'connected_gene': 'NUDT8', 'score': 36.19}, {'connected_gene': 'PTPRCAP', 'score': 24.66}, {'connected_gene': 'NDUFV1', 'score': 18.26}, {'connected_gene': 'C11orf72', 'score': 12.6}, {'connected_gene': 'DOC2GP', 'score': 12.56}, {'connected_gene': 'RHOD', 'score': 11.38}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'ALDH3B2', 'score': 6.44}, {'connected_gene': 'CDK2AP2', 'score': 6.2}, {'connected_gene': 'ACY3', 'score': 4.82}, {'connected_gene': 'FAM86C2P', 'score': 4.06}, {'connected_gene': 'GC11P067588', 'score': 0.77}, {'connected_gene': 'GC11M067584', 'score': 0.26}]
chr11	GH11I067627	67627004	67635571	2.28	[{'connected_gene': 'NUDT8', 'score': 576.7}, {'connected_gene': 'DOC2GP', 'score': 23.88}, {'connected_gene': 'ENSG00000255119', 'score': 23.38}, {'connected_gene': 'ANKRD13D', 'score': 10.26}, {'connected_gene': 'CDK2AP2', 'score': 6.14}, {'connected_gene': 'NDUFV1', 'score': 4.74}, {'connected_gene': 'TBX10', 'score': 0.44}]
chr11	GH11I067604	67604810	67608425	2.27	[{'connected_gene': 'ENSG00000255119', 'score': 581.95}, {'connected_gene': 'NDUFV1', 'score': 556.87}, {'connected_gene': 'PIR42297', 'score': 550.77}, {'connected_gene': 'C11orf72', 'score': 550.77}, {'connected_gene': 'NUDT8', 'score': 25.18}, {'connected_gene': 'CDK2AP2', 'score': 6.17}, {'connected_gene': 'GC11M067584', 'score': 0.34}]