Disease table of MYOPATHY, CENTRONUCLEAR OMIM ID: PS160150

Gene-disease associations table

Gene	Associated with MYOPATHY, CENTRONUCLEAR in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
MTMR14	OMIM, HUMSAVAR	HGNC link	3p25.3	1	PS160150
MYF6	ClinVar, OMIM, HUMSAVAR	HGNC link	12q21.31	1	PS160150
CCDC78	ClinVar, OMIM	HGNC link	16p13.3	1	PS160150
TTN	ClinVar	HGNC link	2q31.2	8	PS192600, PS253600, 600334, PS115200, 603689, 603829, 611705, PS160150
DNM2	ClinVar, OMIM, HUMSAVAR	HGNC link	19p13.2	4	PS118220, PS253310, PS160150, 310400
BIN1	ClinVar, OMIM, HUMSAVAR	HGNC link	2q14.3	1	PS160150

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
2q	2	BIN1, TTN

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
2	2	BIN1, TTN

Transcription Factors (TF) annotation from TRRUST

TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
MYF6	YES	4	RB1, CCND3, ACACB, CDKN1A	0
BIN1	YES	1	MYCN	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
MTMR14	DNM2	No	1	APP
MTMR14	BIN1	No	1	APP
TTN	DNM2	No	1	NTRK1
TTN	BIN1	No	1	FHL2
DNM2	BIN1	Yes	5	AMPH, XRCC6, DNM1, BIN1, APP

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
TTN	DNM2	No	-	3	UBC, MYH14, CD2AP
DNM2	BIN1	Yes	binding	3	EPS15, SH3GL2, DNM1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Hypertrophic cardiomyopathy (HCM) (hsa05410)	NEW	6.21	0.04	TTN, BIN1
Dilated cardiomyopathy (hsa05414)	NEW	6.08	0.049	TTN, BIN1
Bacterial invasion of epithelial cells (hsa05100)	NEW	6.34	0.027	DNM2, BIN1

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Metabolism	R-HSA-1430728	2.34	2	MTMR14, DNM2
Developmental Biology	R-HSA-1266738	3.48	2	MYF6, DNM2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Muscle contraction (R-HSA-397014)	NEW	6.96	0.047	TTN, BIN1

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	5	TTN, MTMR14, MYF6, BIN1, DNM2
protein binding (GO:0005515)	0.46	5	TTN, MTMR14, MYF6, BIN1, DNM2
cytoskeletal protein binding (GO:0008092)	3.02	3	TTN, DNM2, BIN1
organic cyclic compound binding (GO:0097159)	1.05	3	TTN, MYF6, DNM2
enzyme binding (GO:0019899)	2.27	3	TTN, DNM2, BIN1
catalytic activity (GO:0003824)	1.05	3	TTN, MTMR14, DNM2
macromolecular complex binding (GO:0044877)	2.61	3	TTN, DNM2, BIN1
protein complex binding (GO:0032403)	3.09	3	TTN, DNM2, BIN1
heterocyclic compound binding (GO:1901363)	1.06	3	TTN, MYF6, DNM2
actin binding (GO:0003779)	3.74	2	TTN, BIN1
hydrolase activity (GO:0016787)	1.9	2	MTMR14, DNM2
carbohydrate derivative binding (GO:0097367)	2.03	2	TTN, DNM2
purine ribonucleoside triphosphate binding (GO:0035639)	2.22	2	TTN, DNM2
nucleotide binding (GO:0000166)	1.96	2	TTN, DNM2
protein kinase binding (GO:0019901)	3.44	2	TTN, DNM2
kinase binding (GO:0019900)	3.32	2	TTN, DNM2
identical protein binding (GO:0042802)	2.63	2	TTN, BIN1
actin filament binding (GO:0051015)	4.93	2	TTN, BIN1
ribonucleotide binding (GO:0032553)	2.19	2	TTN, DNM2
purine nucleoside binding (GO:0001883)	2.22	2	TTN, DNM2
ribonucleoside binding (GO:0032549)	2.22	2	TTN, DNM2
purine ribonucleotide binding (GO:0032555)	2.2	2	TTN, DNM2
purine nucleotide binding (GO:0017076)	2.19	2	TTN, DNM2
small molecule binding (GO:0036094)	1.89	2	TTN, DNM2
purine ribonucleoside binding (GO:0032550)	2.22	2	TTN, DNM2
nucleoside phosphate binding (GO:1901265)	1.96	2	TTN, DNM2
nucleoside binding (GO:0001882)	2.21	2	TTN, DNM2

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
cellular process (GO:0009987)	0.26	6	DNM2, TTN, MYF6, CCDC78, BIN1, MTMR14
single-organism cellular process (GO:0044763)	0.65	6	DNM2, TTN, MYF6, CCDC78, BIN1, MTMR14
single-organism process (GO:0044699)	0.48	6	DNM2, TTN, MYF6, CCDC78, BIN1, MTMR14
developmental process (GO:0032502)	1.36	4	TTN, MYF6, DNM2, BIN1
multicellular organismal process (GO:0032501)	1.45	4	TTN, MYF6, CCDC78, BIN1
cellular macromolecule metabolic process (GO:0044260)	0.93	4	TTN, MTMR14, MYF6, DNM2
cellular developmental process (GO:0048869)	1.82	4	TTN, MYF6, DNM2, BIN1
anatomical structure development (GO:0048856)	1.58	4	TTN, MYF6, DNM2, BIN1
cellular metabolic process (GO:0044237)	0.69	4	TTN, MTMR14, MYF6, DNM2
regulation of cellular process (GO:0050794)	0.5	4	TTN, MYF6, DNM2, BIN1
single-organism developmental process (GO:0044767)	1.49	4	TTN, MYF6, DNM2, BIN1
organic substance metabolic process (GO:0071704)	0.63	4	TTN, MTMR14, MYF6, DNM2
biological regulation (GO:0065007)	0.39	4	TTN, MYF6, DNM2, BIN1
cellular component organization (GO:0016043)	1.24	4	TTN, CCDC78, DNM2, BIN1
metabolic process (GO:0008152)	0.58	4	TTN, MTMR14, MYF6, DNM2
macromolecule metabolic process (GO:0043170)	0.83	4	TTN, MTMR14, MYF6, DNM2
regulation of biological process (GO:0050789)	0.45	4	TTN, MYF6, DNM2, BIN1
cellular component organization or biogenesis (GO:0071840)	1.22	4	TTN, CCDC78, DNM2, BIN1
cellular component assembly (GO:0022607)	2.14	3	TTN, CCDC78, BIN1
regulation of primary metabolic process (GO:0080090)	1.08	3	TTN, MYF6, DNM2
regulation of metabolic process (GO:0019222)	1.02	3	TTN, MYF6, DNM2
regulation of cellular metabolic process (GO:0031323)	1.07	3	TTN, MYF6, DNM2
regulation of cellular component organization (GO:0051128)	2.01	3	MYF6, DNM2, BIN1
anatomical structure morphogenesis (GO:0009653)	2.53	3	TTN, MYF6, DNM2
regulation of cell development (GO:0060284)	3.01	3	MYF6, DNM2, BIN1
regulation of macromolecule metabolic process (GO:0060255)	1.08	3	TTN, MYF6, DNM2
positive regulation of cell development (GO:0010720)	3.57	3	MYF6, DNM2, BIN1
positive regulation of biological process (GO:0048518)	1.2	3	MYF6, DNM2, BIN1
regulation of developmental process (GO:0050793)	2.1	3	MYF6, DNM2, BIN1
transport (GO:0006810)	1.51	3	TTN, DNM2, BIN1
positive regulation of cell differentiation (GO:0045597)	3.01	3	MYF6, DNM2, BIN1
regulation of cell differentiation (GO:0045595)	2.42	3	MYF6, DNM2, BIN1
regulation of multicellular organismal process (GO:0051239)	1.87	3	MYF6, DNM2, BIN1
establishment of localization (GO:0051234)	1.48	3	TTN, DNM2, BIN1
localization (GO:0051179)	1.4	3	TTN, DNM2, BIN1
organelle organization (GO:0006996)	2.02	3	TTN, CCDC78, BIN1
primary metabolic process (GO:0044238)	0.69	3	TTN, MTMR14, MYF6
vesicle-mediated transport (GO:0016192)	2.72	3	TTN, DNM2, BIN1
positive regulation of developmental process (GO:0051094)	2.77	3	MYF6, DNM2, BIN1
regulation of multicellular organismal development (GO:2000026)	2.31	3	MYF6, DNM2, BIN1
positive regulation of cellular process (GO:0048522)	1.3	3	MYF6, DNM2, BIN1
positive regulation of cellular component organization (GO:0051130)	2.68	2	MYF6, DNM2
macromolecular complex subunit organization (GO:0043933)	2.14	2	TTN, BIN1
positive regulation of metabolic process (GO:0009893)	1.74	2	MYF6, DNM2
positive regulation of biosynthetic process (GO:0009891)	2.29	2	MYF6, DNM2
cell projection organization (GO:0030030)	3.14	2	CCDC78, DNM2
regulation of transport (GO:0051049)	2.24	2	DNM2, BIN1
positive regulation of cellular metabolic process (GO:0031325)	1.81	2	MYF6, DNM2
positive regulation of nitrogen compound metabolic process (GO:0051173)	2.29	2	MYF6, DNM2
mitotic cell cycle process (GO:1903047)	3.12	2	TTN, DNM2
positive regulation of RNA metabolic process (GO:0051254)	2.51	2	MYF6, DNM2
striated muscle contraction (GO:0006941)	5.37	2	TTN, CCDC78
cellular biosynthetic process (GO:0044249)	1.37	2	MTMR14, MYF6
muscle system process (GO:0003012)	4.18	2	TTN, CCDC78
positive regulation of gene expression (GO:0010628)	2.35	2	MYF6, DNM2
cell cycle process (GO:0022402)	2.75	2	TTN, DNM2
cellular macromolecular complex assembly (GO:0034622)	3.18	2	TTN, BIN1
positive regulation of cell death (GO:0010942)	3.32	2	DNM2, BIN1
organic substance biosynthetic process (GO:1901576)	1.34	2	MTMR14, MYF6
macromolecular complex assembly (GO:0065003)	2.55	2	TTN, BIN1
regulation of apoptotic process (GO:0042981)	2.5	2	DNM2, BIN1
multicellular organism development (GO:0007275)	2.54	2	MYF6, BIN1
cellular protein metabolic process (GO:0044267)	1.63	2	TTN, MTMR14
single-organism metabolic process (GO:0044710)	1.63	2	MTMR14, DNM2
regulation of localization (GO:0032879)	1.94	2	DNM2, BIN1
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	2	MYF6, DNM2
positive regulation of multicellular organismal process (GO:0051240)	2.49	2	MYF6, BIN1
regulation of anatomical structure morphogenesis (GO:0022603)	2.79	2	MYF6, DNM2
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	2	MYF6, DNM2
phosphate-containing compound metabolic process (GO:0006796)	2.16	2	TTN, MTMR14
positive regulation of apoptotic process (GO:0043065)	3.38	2	DNM2, BIN1
regulation of neuron differentiation (GO:0045664)	3.39	2	DNM2, BIN1
regulation of programmed cell death (GO:0043067)	2.49	2	DNM2, BIN1
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	MYF6, DNM2
single-organism localization (GO:1902578)	2.09	2	TTN, DNM2
tissue morphogenesis (GO:0048729)	3.87	2	TTN, MYF6
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	MYF6, DNM2
negative regulation of biological process (GO:0048519)	1.33	2	MYF6, DNM2
regulation of molecular function (GO:0065009)	1.78	2	TTN, DNM2
positive regulation of programmed cell death (GO:0043068)	3.38	2	DNM2, BIN1
anatomical structure formation involved in morphogenesis (GO:0048646)	3.01	2	TTN, MYF6
single-organism organelle organization (GO:1902589)	2.68	2	TTN, CCDC78
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	2	MYF6, DNM2
cell differentiation (GO:0030154)	2.14	2	MYF6, BIN1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935)	2.35	2	MYF6, DNM2
muscle contraction (GO:0006936)	4.37	2	TTN, CCDC78
regulation of neurogenesis (GO:0050767)	3.21	2	DNM2, BIN1
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	2	MYF6, DNM2
regulation of catalytic activity (GO:0050790)	1.97	2	TTN, DNM2
regulation of biosynthetic process (GO:0009889)	1.37	2	MYF6, DNM2
cellular protein modification process (GO:0006464)	1.79	2	TTN, MTMR14
regulation of vesicle-mediated transport (GO:0060627)	3.63	2	DNM2, BIN1
biosynthetic process (GO:0009058)	1.32	2	MTMR14, MYF6
single-organism transport (GO:0044765)	2.18	2	TTN, DNM2
protein modification process (GO:0036211)	1.79	2	TTN, MTMR14
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	2	MYF6, DNM2
regulation of RNA biosynthetic process (GO:2001141)	1.55	2	MYF6, DNM2
response to chemical (GO:0042221)	1.98	2	TTN, DNM2
response to inorganic substance (GO:0010035)	3.56	2	TTN, DNM2
regulation of endocytosis (GO:0030100)	4.42	2	DNM2, BIN1
organelle assembly (GO:0070925)	3.75	2	TTN, CCDC78
system process (GO:0003008)	2.3	2	TTN, CCDC78
response to abiotic stimulus (GO:0009628)	2.8	2	TTN, DNM2
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	2	MYF6, DNM2
endocytosis (GO:0006897)	3.69	2	DNM2, BIN1
single-multicellular organism process (GO:0044707)	1.78	2	MYF6, BIN1
protein metabolic process (GO:0019538)	1.45	2	TTN, MTMR14
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	2	MYF6, DNM2
response to stimulus (GO:0050896)	1.22	2	TTN, DNM2
regulation of RNA metabolic process (GO:0051252)	1.52	2	MYF6, DNM2
regulation of cell death (GO:0010941)	2.43	2	DNM2, BIN1
macromolecule modification (GO:0043412)	1.73	2	TTN, MTMR14
regulation of gene expression (GO:0010468)	1.37	2	MYF6, DNM2
positive regulation of RNA biosynthetic process (GO:1902680)	2.54	2	MYF6, DNM2
regulation of transcription, DNA-templated (GO:0006355)	1.56	2	MYF6, DNM2
positive regulation of macromolecule biosynthetic process (GO:0010557)	2.39	2	MYF6, DNM2
regulation of nervous system development (GO:0051960)	3.1	2	DNM2, BIN1
muscle tissue morphogenesis (GO:0060415)	5.62	2	TTN, MYF6
phosphorus metabolic process (GO:0006793)	2.15	2	TTN, MTMR14
negative regulation of cellular process (GO:0048523)	1.41	2	MYF6, DNM2
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	2	MYF6, DNM2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
muscle system process (GO:0003012)	-	4.18	0.029	TTN, CCDC78, DNM2, BIN1
somitogenesis (GO:0001756)	NEW	5.9	0.028	TTN, MYF6
segmentation (GO:0035282)	NEW	5.8	0.032	TTN, MYF6
muscle contraction (GO:0006936)	-	4.37	0.011	TTN, CCDC78, DNM2, BIN1

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
intracellular part (GO:0044424)	0.28	6	DNM2, TTN, MYF6, CCDC78, BIN1, MTMR14
cell part (GO:0044464)	0.11	6	DNM2, TTN, MYF6, CCDC78, BIN1, MTMR14
cytoplasm (GO:0005737)	1.01	5	TTN, MTMR14, CCDC78, BIN1, DNM2
intracellular membrane-bounded organelle (GO:0043231)	0.6	5	TTN, MYF6, CCDC78, BIN1, DNM2
intracellular organelle (GO:0043229)	0.51	5	TTN, CCDC78, MYF6, BIN1, DNM2
cytoplasmic part (GO:0044444)	0.82	5	TTN, MTMR14, CCDC78, BIN1, DNM2
membrane-bounded organelle (GO:0043227)	0.47	5	TTN, CCDC78, MYF6, BIN1, DNM2
organelle (GO:0043226)	0.4	5	TTN, CCDC78, MYF6, BIN1, DNM2
organelle part (GO:0044422)	0.79	5	TTN, MYF6, CCDC78, BIN1, DNM2
intracellular organelle part (GO:0044446)	0.81	4	TTN, MYF6, CCDC78, DNM2
nucleus (GO:0005634)	1.07	4	TTN, MYF6, DNM2, BIN1
non-membrane-bounded organelle (GO:0043228)	1.76	4	TTN, CCDC78, DNM2, BIN1
macromolecular complex (GO:0032991)	1.35	4	TTN, MYF6, DNM2, BIN1
intracellular non-membrane-bounded organelle (GO:0043232)	1.76	4	TTN, CCDC78, DNM2, BIN1
protein complex (GO:0043234)	1.51	3	TTN, MYF6, DNM2
cytoskeleton (GO:0005856)	2.55	3	CCDC78, DNM2, BIN1
cytosol (GO:0005829)	1.68	3	TTN, MTMR14, DNM2
membrane (GO:0016020)	0.68	3	CCDC78, DNM2, BIN1
cytoskeletal part (GO:0044430)	2.49	3	TTN, CCDC78, DNM2
perinuclear region of cytoplasm (GO:0048471)	3.35	3	MTMR14, CCDC78, DNM2
cell projection (GO:0042995)	2.47	3	MTMR14, DNM2, BIN1
extracellular organelle (GO:0043230)	1.89	2	TTN, DNM2
vesicle (GO:0031982)	1.64	2	TTN, DNM2
extracellular exosome (GO:0070062)	1.89	2	TTN, DNM2
cell projection part (GO:0044463)	2.97	2	DNM2, BIN1
I band (GO:0031674)	6.67	2	TTN, BIN1
membrane-bounded vesicle (GO:0031988)	1.71	2	TTN, DNM2
neuron part (GO:0097458)	2.64	2	DNM2, BIN1
nuclear part (GO:0044428)	1.55	2	TTN, MYF6
plasma membrane (GO:0005886)	1.39	2	CCDC78, DNM2
membrane part (GO:0044425)	0.95	2	DNM2, BIN1
extracellular vesicle (GO:1903561)	1.89	2	TTN, DNM2
plasma membrane part (GO:0044459)	1.95	2	DNM2, BIN1
extracellular region part (GO:0044421)	1.57	2	TTN, DNM2
Z disc (GO:0030018)	5.11	2	TTN, BIN1
contractile fiber part (GO:0044449)	4.53	2	TTN, BIN1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
I band (GO:0031674)	-	6.67	0.013	TTN, BIN1
Z disc (GO:0030018)	-	5.11	0.011	TTN, DNM2, BIN1