Publication for COL5A2 and FBN1

Species	Symbol	Function*	Entrez Gene ID*	Other ID	Gene coexpression	CoexViewer
hsa	COL5A2	collagen type V alpha 2 chain	1290			[link]
hsa	FBN1	fibrillin 1	2200

Pubmed ID	Priority	Text
28855619	0.98	FBN1 was confirmed and c.2846C > G in COL5A2 was proved to be benign after family verification of the proband TAAD046.
	0.94	FBN1, 2 VUS in ACTA2, as well as 11 other VUS, including 3 in Col5A2, 2 in SLC2A10, 2 in MYH11, 2 in MYLK, 1 in MSTN and 1 in SMAD3 were identified in the current study (Table 4).
	0.93	FBN1 gene), 10 were likely pathogenic (9 for the FBN1 gene, 1 for the ACTA2 gene), and 27 were VUS (14 in FBN1 gene, 3 in Col5A2, 2 in ACTA2, 2 in MYH11,2 in MYLK, 2 in SLC2A10,1 in MSTN and 1 in SMAD3 respectively).
	0.81	Col5A2, FBN1, MSTN, MYH11, MYLK, SLC2A10, SMAD3, TGFBR1, and TGFBR2 were analyzed by NGS among 70 TAAD subjects enrolled from southern China.
	0.80	FBN1 gene, 3 in Col5A2, 2 in ACTA2, 2 in MYH11, 2 in MYLK, 2 in SLC2A10, 1 in MSTN and 1 in SMAD3 respectively.
	0.72	FBN1 c.2216 G > A was harmful both by SIFT and Polyphen while COL5A2c.2846C > G was pathogenic by SIFT and non-pathogenic by Polyphen, respectively.
31538843	0.97	COL5A2 and 3 variants of unknown significance were identified in MYH11,COL11A1, and FBN1 in 4 fIA patients.
	0.88	COL5A2 c.322+1G>C (NM_000393.3), four missense variants each in one patient: SKI c.1582G>C, p.(Ala528Pro) (NM_003036.3); FBN1 c.3571G>A, p.(Asp1191Asn) (NM_000138.4); MYH11 c.4903T>A, p.Ser1635Thr) (NM_022844.2); COL11A1 c.278G>T, p.Gly93Val) (NM_080629.2) and a synonymous variant COL3A1 c.1038C>T, p.(Ser346=) (NM_000090.3) (Table 5).
29050298	0.97	COL5A2, FBN1 and POSTN were hub nodes in the both co-expression module and PPI network, indicating that those hub genes had high connection with clinical trait as well as vital biological processes.
22493711	0.96	COL5A2, FAP, POSTN, COL1A2, COL3A1, FBN1, TNFAIP6, MMP2, GREM1, BGN, CDH11, SPOCK1, DCN, COPZ2, THY1, PCOLCE, PRRX1, PDGFRB, SPARC, INHBA, COL6A2, FN1, ACTA2.
25767398	0.96	COL5A2, and COL3A1), LAMC1, and fibrillin (FBN) as well as several genes involved in extracellular matrix deposition and remodeling.
28924124	0.95	FBN1 (Marfan syndrome); FBN2 (Beals syndrome); TGFBR1, TGFBR2 (Loeys-Dietz syndrome); COL5A1, COL5A2 (EDS, classical type); TNXB (EDS, hypermobility type found in a small number of patients); COL3A1 (EDS, vascular type); PLOD1 (EDS, kyphoscoliosis type); COL1A1, COL1A2 (EDS, arthrochalasia type); ADAMTS2 (EDS, dermatosparaxis type); CHST14 (EDS, musculocontractural type); ZNF469 (Brittle cornea syndrome); FKBP14 (EDS with progressive kyphoscoliosis, myopathy, and hearing loss); SLC39A13 (EDS-like spondylocheirodysplasia); and B4GALT7 (EDS, progeroid type).
30816427	0.95	COL5A2, COL6A2, ITGA5, FBN1, CTGF, ITGA4, PDGFRB, LUM, PPIB, MMP14, ITGA11 and COPB1 (Table II).
31119130	0.94	COL5A2, COL16A1, PCOLCE2, ADK, MYH9, FBN1, HSPG2).
27843486	0.93	COL5A2 through FBN1 on the PPI network.
31333338	0.92	FBN1, COL3A1, COL5A2, and POSTN were hub genes in both co-expression module and PPI network in bladder cancer.
19956414	0.90	COL5A2, COL3A1) LAMC1, and FBN as well as several genes involved in ECM deposition and remodeling, such as SPARC/osteonectin.
	0.79	COL5A2, COL5A1, COL4A1, COL3A1, COL1A1, and COL1A2) laminin C, fibrillin 1, and microfibrillar-associated protein 3; and extracellular matrix regulators, such as MMP14, LOXL2, SERPINH1, SPARC, TNFAIP6, and ADAM 12.
28562334	0.89	FBN1, COL5A1, COL5A2, and AEBP1 are top hub genes related to stage, while CDK1, BUB1, BUB1B, BIRC5, AURKB, CENPA, and CDC20 are top hub genes related to grade.
	0.89	FBN1, COL5A1, COL5A2, and AEBP1.
28993736	0.89	COL5A2, EFEMP2, ELN, EMILIN1, FBN1, FBN2, FLNA, LOX, MFAP5); vascular SMC contraction or metabolism (ACTA2, MYH11, FOXE3, MAT2A, MYLK, PRKG1); or TGF-beta signaling (FBN1, NOTCH1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2).
22208948	0.75	COL5A2, FAP, POSTN, COL1A2, COL3A1, FBN1, TNFAIP6, MMP2, GREM1, BGN, CDH11, SPOCK1, DCN, COPZ2, THY1, PCOLCE, PRRX1) plus the obvious EMT markers SNAI2, FN1, ACTA2.