Gene Report

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Basic Info

Approved Symbol	FBN1
Previous Symbol	FBN, MFS1, WMS
Symbol Alias	MASS, OCTD, SGS
Approved Name	fibrillin 1
Previous Name	fibrillin 1 (Marfan syndrome)
Name Alias	Marfan syndrome
Location	15q21.1
Position	chr15:48408306-48645849, -1
External Links	HGNC: 3603 Entrez Gene: 2200 Ensembl: ENSG00000166147 UCSC: uc001zwx.2
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Djurovic, S.,2010	SNP: rs1566816, rs1848053, rs8042197, rs931781	No significant association of this gene was observed in BD.	Negative	Comment on Study
Xu, W., 2014	SNP: rs16961283	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005509	calcium ion binding	molecular function	IDA[7691719]	50
GO:0031012	extracellular matrix	cellular component	IDA[23658023]; IDA[20551380]	9

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005578	proteinaceous extracellular matrix	cellular component	IDA[3536967]	19
GO:0005576	extracellular region	cellular component	TAS	97
GO:0005604	basement membrane	cellular component	IDA[3536967]	5
GO:0071560	cellular response to transforming growth factor beta stimulus	biological process	IEA	2
GO:0005615	extracellular space	cellular component	IDA[20551380]	85
GO:0005201	extracellular matrix structural constituent	molecular function	IDA[3536967]	6
GO:0030198	extracellular matrix organization	biological process	TAS	26
GO:0035583	sequestering of TGFbeta in extracellular matrix	biological process	ISS	1
GO:0005515	protein binding	molecular function	IPI[12429738]	563
GO:0001656	metanephros development	biological process	IEA	8
GO:0007507	heart development	biological process	IMP[15781745]	20
GO:0035582	sequestering of BMP in extracellular matrix	biological process	ISS	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0001501	skeletal system development	biological process	IMP[8188302]	16
GO:0022617	extracellular matrix disassembly	biological process	TAS	10
GO:0001527	microfibril	cellular component	IDA[10424889]	2

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
FBN1	FBN2	NO	in vivo	10359653 , 10504303
FBN1	MFAP2	NO	in vitro	11481325
FBN1	HSPG2	NO	in vitro	15657057
FBN1	MYOC	NO	in vitro	11923248
FBN1	VCAN	NO	in vitro	11726670
FBN1	CALR	NO	in vivo	10547375
FBN1	MFAP5	NO	in vivo	12122015
FBN1	LTBP1	NO	in vitro;in vivo	12429738
FBN1	DCN	NO	in vivo	10793130
FBN1	ELN	NO	in vivo	10825173

Related other genetic factors

Gene related SNPs (count: 16)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1848053	chr15:48655765 - 48655765(1)	downstream_gene_variant	1(0/1/0)
rs1566816	chr15:48673021 - 48673021(1)		1(0/1/0)
rs931781	chr15:48662707 - 48662707(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs16961283	chr15:48636598 - 48636598(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant	1(0/1/0)
rs8042197	chr15:48656094 - 48656094(1)	downstream_gene_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs1567074	chr15:48623353 - 48623353(1)	intron_variant; NMD_transcript_variant
rs16960981	chr15:48472745 - 48472745(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs7182490	chr15:48626081 - 48626081(1)	intron_variant; NMD_transcript_variant
rs7182109	chr15:48625851 - 48625851(1)	intron_variant; NMD_transcript_variant
rs6493331	chr15:48642431 - 48642431(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs16961286	chr15:48638674 - 48638674(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs7179473	chr15:48642803 - 48642803(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs1827918	chr15:48628745 - 48628745(1)	intron_variant; NMD_transcript_variant
rs2028110	chr15:48627022 - 48627022(1)	intron_variant; NMD_transcript_variant
rs12019019	chr15:48636143 - 48636143(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs12324757	chr15:48630164 - 48630164(1)	intron_variant; NMD_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
15q15.1-21.2	chr15:39800000-52600000	1 (0/0/1)
15q21	chr15:44500000-58800000	1 (0/1/0)
Chr 15	chr15:0-101991189	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr15:48408306..48645849 View in gBrowse