4p16.3 copy number variation

No Pathway Network information available for 4p16.3 copy number variation

Pathways in the 4p16.3 copy number variation SuperPath

#	Name	Source	Genes
1	4p16.3 copy number variation	WikiPathways	BCS1L CBL CKAP5 CLTCL1 ERI1 FAM53A FGF2 FGFR3 FRS2 GAB1 GRB2 H3-3A LETM1 MAPK1 MAPK3 MIR943 NAT8L NELFA NELFB NELFCD NELFE NICOL1 NSD2 PIK3R1 PLCG1 POLN SCARNA22 SLBP SOS1 TACC3 TMEM129 UBE2J2 (see all 32) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	POLN	DNA Polymerase Nu	Protein Coding	1
2	CKAP5	Cytoskeleton Associated Protein 5	Protein Coding	1
3	CBL	Cbl Proto-Oncogene	Protein Coding	1
4	SLBP	Stem-Loop Histone MRNA Binding Protein	Protein Coding	1
5	NSD2	Nuclear Receptor Binding SET Domain Protein 2	Protein Coding	1
6	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	1
7	BCS1L	BCS1 Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	1
8	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
9	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
10	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
11	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
12	LETM1	Leucine Zipper And EF-Hand Containing Transmembrane Protein 1	Protein Coding	1
13	H3-3A	H3.3 Histone A	Protein Coding	1
14	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
15	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	1
16	FGF2	Fibroblast Growth Factor 2	Protein Coding	1
17	TACC3	Transforming Acidic Coiled-Coil Containing Protein 3	Protein Coding	1
18	FAM53A	Family With Sequence Similarity 53 Member A	Protein Coding	1
19	ERI1	Exoribonuclease 1	Protein Coding	1
20	UBE2J2	Ubiquitin Conjugating Enzyme E2 J2	Protein Coding	1
21	FRS2	Fibroblast Growth Factor Receptor Substrate 2	Protein Coding	1
22	CLTCL1	Clathrin Heavy Chain Like 1	Protein Coding	1
23	NELFE	Negative Elongation Factor Complex Member E	Protein Coding	1
24	NELFA	Negative Elongation Factor Complex Member A	Protein Coding	1
25	SCARNA22	Small Cajal Body-Specific RNA 22	RNA Gene	1
26	NELFCD	Negative Elongation Factor Complex Member C/D	Protein Coding	1
27	NICOL1	NELL2 Interacting Cell Ontogeny Regulator 1	Protein Coding	1
28	NAT8L	N-Acetyltransferase 8 Like	Protein Coding	1
29	TMEM129	Transmembrane Protein 129, E3 Ubiquitin Ligase	Protein Coding	1
30	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1
31	NELFB	Negative Elongation Factor Complex Member B	Protein Coding	1
32	MIR943	MicroRNA 943	RNA Gene	1

Disorders associated with 4p16.3 copy number variation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Wolf-hirschhorn syndrome	Enrichment	LETM1, NELFA, NSD2	6.62
2	Renal hypodysplasia/aplasia 3	Enrichment	ERI1, FGFR3	3.46
3	Noonan syndrome and noonan-related syndrome	Enrichment	CBL, SOS1	3.26
4	Gliosarcoma	Enrichment	FGFR3, TACC3	3.20
5	Giant cell glioblastoma	Enrichment	FGFR3, TACC3	3.14
6	Noonan syndrome 1	Enrichment	CBL, SOS1	2.88
7	Rasopathy	Enrichment	CBL, SOS1	2.77
8	Hypochondroplasia	Enrichment	FGFR3	2.63
9	Thanatophoric dysplasia, type i	Enrichment	FGFR3	2.63
10	Muenke syndrome	Enrichment	FGFR3	2.63
11	Deafness, autosomal recessive 26	Enrichment	GAB1	2.63
12	Noonan syndrome 4	Enrichment	SOS1	2.63
13	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	2.63
14	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	2.63
15	Bjornstad syndrome	Enrichment	BCS1L	2.63
16	Noonan syndrome 13	Enrichment	MAPK1	2.63
17	Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction	Enrichment	LETM1	2.63
18	Hoxha-aliu syndrome	Enrichment	ERI1	2.63
19	Short syndrome	Enrichment	PIK3R1	2.63
20	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.63
21	Gracile syndrome	Enrichment	BCS1L	2.63
22	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	2.63
23	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.63
24	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.63
25	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	2.63
26	N-acetylaspartate deficiency	Enrichment	NAT8L	2.63
27	Bryant-li-bhoj neurodevelopmental syndrome 1	Enrichment	H3-3A	2.63
28	Rauch-steindl syndrome	Enrichment	NSD2	2.63
29	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	2.63
30	Congenital insensitivity to pain with severe intellectual disability	Enrichment	CLTCL1	2.63
31	Spondyloepimetaphyseal dysplasia, guo-campeau type	Enrichment	ERI1	2.63
32	Renal tubulopathy-encephalopathy-liver failure syndrome	Enrichment	BCS1L	2.63
33	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	2.63
34	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	2.63
35	Fibromatosis, gingival, 1	Enrichment	SOS1	2.33
36	Ovarian germ cell cancer	Enrichment	CBL	2.33
37	Cervical cancer	Enrichment	FGFR3	2.33
38	Pulmonic stenosis	Enrichment	SOS1	2.33
39	Macroglossia	Enrichment	NSD2	2.33
40	Keratosis, seborrheic	Enrichment	FGFR3	2.33
41	Cervix carcinoma	Enrichment	FGFR3	2.33
42	Fissured tongue	Enrichment	NSD2	2.33
43	Bryant-li-bhoj neurodevelopmental syndrome 2	Enrichment	H3-3A	2.33
44	Malignant germ cell tumor of ovary	Enrichment	CBL	2.33
45	Crouzon syndrome	Enrichment	FGFR3	2.15
46	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGFR3	2.15
47	Achondroplasia	Enrichment	FGFR3	2.15
48	Mitochondrial complex iii deficiency, nuclear type 1	Enrichment	BCS1L	2.15
49	Larsen syndrome	Enrichment	FGFR3	2.15
50	Nuchal bleb, familial	Enrichment	SOS1	2.15
51	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3R1	2.15
52	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	2.15
53	Hamartoma	Enrichment	FGFR3	2.15
54	Testicular germ cell cancer	Enrichment	FGFR3	2.15
55	Immunodeficiency 14	Enrichment	PIK3R1	2.15
56	Spermatocytoma	Enrichment	FGFR3	2.15
57	Testicular cancer	Enrichment	FGFR3	2.15
58	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	2.03
59	Saethre-chotzen syndrome	Enrichment	FGFR3	2.03
60	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CBL	2.03
61	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	2.03
62	Gingival fibromatosis	Enrichment	SOS1	2.03
63	Hemifacial hyperplasia	Enrichment	FGFR3	1.93
64	Myeloproliferative neoplasm	Enrichment	CBL	1.93
65	Hypoglycemia	Enrichment	NSD2	1.93
66	Aggressive systemic mastocytosis	Enrichment	CBL	1.93
67	Testicular germ cell tumor	Enrichment	FGFR3	1.85
68	Lung squamous cell carcinoma	Enrichment	FGFR3	1.85
69	46,xy disorder of sex development	Enrichment	FGFR3	1.85
70	Nevus, epidermal	Enrichment	FGFR3	1.79
71	Noonan syndrome 3	Enrichment	SOS1	1.79
72	Overgrowth syndrome	Enrichment	PIK3R1	1.79
73	Colorectal cancer	Enrichment	FGFR3, PIK3R1	1.75
74	Glioma susceptibility 1	Enrichment	H3-3A	1.73
75	Ventricular septal defect	Enrichment	NSD2	1.68
76	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	1.63
77	Primary bone dysplasia	Enrichment	FGFR3	1.63
78	Osteochondrodysplasia	Enrichment	FGFR3	1.59
79	Movement disease	Enrichment	BCS1L	1.59
80	Specific learning disability	Enrichment	MAPK1	1.59
81	Isolated complex iii deficiency	Enrichment	BCS1L	1.59
82	Juvenile myelomonocytic leukemia	Enrichment	CBL	1.55
83	Aortic valve disease 1	Enrichment	SOS1	1.52
84	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	NSD2	1.52
85	Clubfoot	Enrichment	NSD2	1.52
86	Protein-deficiency anemia	Enrichment	NSD2	1.52
87	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.49
88	Microcephaly	Enrichment	BCS1L, MAPK1	1.47
89	Rhabdomyosarcoma	Enrichment	CBL	1.43
90	Syndromic intellectual disability	Enrichment	NSD2	1.40
91	Heart, malformation of	Enrichment	MAPK1	1.38
92	Craniosynostosis	Enrichment	FGFR3	1.34
93	Hepatoblastoma	Enrichment	FGFR3	1.31
94	Bladder cancer	Enrichment	FGFR3	1.18
95	Connective tissue disease	Enrichment	FGFR3	1.14
96	Hypertrophic cardiomyopathy	Enrichment	NSD2	1.01
97	Thrombocytopenia	Enrichment	NSD2	0.97
98	Myeloma, multiple	Enrichment	FGFR3	0.91
99	Leigh syndrome, nuclear	Enrichment	BCS1L	0.82
100	Leigh disease	Enrichment	BCS1L	0.78
101	Congenital nervous system abnormality	Enrichment	FGFR3	0.65
102	Nervous system disease	Enrichment	FGFR3	0.65

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

4p16.3 copy number variation

Pathway Network for 4p16.3 copy number variation

Member Pathways for 4p16.3 copy number variation

Pathways in the 4p16.3 copy number variation SuperPath

Associated Genes for 4p16.3 copy number variation

Associated Disorders for 4p16.3 copy number variation

Disorders associated with 4p16.3 copy number variation SuperPath

STRING Interaction Network for 4p16.3 copy number variation

Sources for 4p16.3 copy number variation