FUS

Gene summary Variants Phenotype Publications

Gene summary
Gene FUS
Gene name FUS RNA binding protein
Number variants ALSoD 126
Number people with mutation ALSoD 104
Number of papers ALSoD 66
Chromosomal location 16p11.2
Protein RNA-binding protein FUS
Discovery method Linkage analysis
Hg19 start-end 31191431-31206192
Hg38 start-end 31180110-31194871
Category

Definitive ALS gene
Evidence summary

To be drafted
Review references To be added

Variants in ALSoD

Mnemonic Chromosome Position hg19 HGVS Pubmed links # publications # patients
16 31195684 NM_004960.3:c.491_495+1del 21261515 1 1
*105dup 16 31202863 NM_004960.4:c.*105dup 22292843 1 0
*108C>T 16 31202867 NM_004960.4:c.*108C>T 23847048 1 0
*10C>T 16 31202769 NM_004960.4:c.*10C>T 19741215 1 0
*110G>A 16 31202869 NM_004960.4:c.*110G>A 23847048 1 0
*132C>A 16 31202891 NM_004960.2:c.*132C>A 22292843 1 0
*14C>T 16 31202773 NM_004960.4:c.*14C>T 22292798 1 0
*190C>A 16 31202949 NM_004960.3:c.*190C>A 22292843 1 0
*21C>T 16 31202780 NM_004960.4:c.*21C>T 20142531 20018407 2 0
*41G>A 16 31202800 NM_004960.2:c.*41G>A 22292843 1 0
*48G>A 16 31202807 NM_004960.4:c.*48G>A 23847048 1 0
*59G>A 16 31202818 NM_004960.4:c.*59G>A 23847048 1 0
227_229del 16 31196402 NM_004960.4:c.678_686del 22244934 1 1
A2A 16 31191541 NM_004960.3:c.6C>T 21261515 1 0
c.-2A>T 16 31191534 NM_004960.4:c.-2A>T 20668259 1 0
c.1066+82C>G 16 31201197 NM_004960.4:c.1066+82C>G 19741215 1 0
c.1169-5A>G 16 31201591 NM_004960.4:c.1169-5A>G 22244934 1 0
c.1394-2delA 16 31202281 NM_004960.4:c.1394-2del 25382069 29650794 2 0
c.1483delC 16 31202371 NM_004960.4:c.1483del 20668259 1 1
c.1486delG 16 31202375 NM_004960.3:c.1486del 24325798 1 1
c.1542-2A>C 16 31202718 NM_004960.4:c.1542-2A>C 21261515 1 0
c.515delGAGGTGGAGGTG 16 31195709 NM_004960.4:c.515_526delGAGGTGGAGGTG 19861302 1 0
c.832+36A>G 16 31199714 NM_004960.4:c.832+36A>G 19741215 1 0
c.833-29C>T 16 31200415 NM_004960.4:c.833-29C>T 19741215 1 0
D502TfsX27 16 31202394 NM_004960.4:c.1504del 26362943 1 0
E516V 16 31202725 NM_004960.4:c.1547A>T 20561714 1 0
G144_Y149del 16 31195604 NM_004960.3:c.430_447del 21261515 1 0
G156E 16 31195661 NM_004960.3:c.467G>A 19741215 1 0
G168G 16 31195698 NM_004960.3:c.504A>T 21261515 1 0
G170G 16 31195704 NM_004960.3:c.510A>T 21261515 1 0
G173_G174del 16 31195692 NM_004960.3:c.521_523+3del 20385912 19251627 20544928 3 1
G175 16 19251627 1 0
G187S 16 31196295 NM_004960.3:c.559G>A 20544928 1 1
G191S 16 31196307 NM_004960.3:c.571G>A 19861302 1 1
G206S 16 31196352 NM_004960.4:c.616G>A 20668259 1 0
G222_G223insG 16 31196402 NM_004960.3:c.666_667insGGC 21261515 1 0
G223del 16 31196402 NM_004960.3:c.667_669delGGC 21261515 1 0
G225V 16 31196410 NM_004960.3:c.674G>T 19861302 1 2
G226S 16 31196412 NM_004960.3:c.676G>A 21261515 19861302 2 0
G226_G229del 16 31196402 NM_004960.4:c.667_678del 20668259 1 0
G227_G229del 16 31196414 NM_004960.4:c.679_687delGGCGGCGGT 19861302 1 0
G227_G230del 16 31196415 NM_004960.4:c.680_691delGGCGGCGGTGGT 19861302 1 0
G228G 16 31196420 NM_004960.3:c.684C>T 21261515 22340366 2 0
G228VfsTer? 16 31196416 NM_004960.4:c.681_684del 22244934 1 1
G229_230del 16 31196420 NM_004960.4:c.685_690delGGTGGT 19861302 1 0
G230C 16 31196424 NM_004960.3:c.688G>T 19861302 1 1
G231dup 16 31196402 NM_004960.4:c.684_686dup 20385912 1 1
G245V 16 31196470 NM_004960.4:c.734G>T 26176978 1 0
G399V 16 31201623 NM_004960.3:c.1196G>T 22244934 1 2
G466VfsX14 16 31202281 NM_004960.4:c.1394_1541del 20232451 1 0
G472VfsX57 16 31202310 NM_004960.4:c.1422_1423dup 22619056 26823199 2 0
G478LfsX2 16 31202321 NM_004960.4:c.1432_1478del 23217123 29650794 2 0
G486PfsX30 16 31202343 NM_004960.4:c.1456_1457del 28429524 1 0
G488G 16 31202354 NM_004960.3:c.1464C>T 21261515 22340366 2 0
G492EfsX527 16 31202363 NM_004960.4:c.1475del 22057404 26488017 2 0
G49G 16 31193942 NM_004960.3:c.147C>A 21261515 1 0
G504WfsX12 16 31202396 NM_004960.3:c.1509_1510del 22244934 1 1
G504WfsX12 16 31202396 NM_004960.4:c.1509_1510del 24899262 23357624 25457557 26519472 26972116 5 0
G507D 16 31202410 NM_004960.3:c.1520G>A 19861302 20385912 2 3
G509D 16 31202416 NM_004960.4:c.1526G>A 29650794 26176978 2 0
G515C 16 31202721 NM_004960.3:c.1543G>T 19251627 1 0
G515VfsX14 16 31202718 NM_004960.4:c.1544del 28429524 1 0
G51G 16 31193948 NM_004960.3:c.153C>T 21261515 1 0
G74G 16 31195210 NM_004960.3:c.222A>G 21261515 1 0
Gly497AlafsTer32 16 31202374 NM_004960.3:c.1485del 20668259 1 4
H517D 16 31202727 NM_004960.3:c.1549C>G 20472325 1 0
H517P 16 31202728 NM_004960.4:c.1550A>C 20224596 26823199 2 0
H517Q 16 31202729 NM_004960.3:c.1551C>G 19251627 1 0
K510E 16 31202418 NM_004960.3:c.1528A>G 21128870 1 0
K510M 16 31202419 NM_004960.4:c.1529A>T 24841222 1 0
K510R 16 31202419 NM_004960.3:c.1529A>G 20660363 1 0
K510WfsTer8 16 NM_004960.4:c.1524_1527dup 20668259 1 2
M254V 16 31196496 NM_004960.3:c.760A>G 20124201 1 0
M464I 16 31202162 NM_004960.3:c.1392G>T 22999566 1 1
N159Y 16 31195669 NM_004960.3:c.475A>T 21261515 1 0
N63S 16 31193983 NM_004960.3:c.188A>G 21261515 1 0
P18S 16 31193847 NM_004960.3:c.52C>T 21261515 1 0
P391P 16 31201600 NM_004960.3:c.1173C>A 21261515 1 0
P525L 16 31202752 NM_004960.3:c.1574C>T 20668261 19450904 21907581 22773853 20579074 20579074 21327942 19251627 22980027 22980027 22055719 20668259 12 12
Q210H 16 31196366 NM_004960.3:c.630G>C 20142531 22645277 2 0
Q519E 16 31202733 NM_004960.4:c.1555C>G 26601740 1 0
Q519IfsX9 16 31202731 NM_004960.4:c.1554_1557del 20668261 1 0
Q519X 16 31202733 NM_004960.3:c.1555C>T 21261515 1 0
R216C 16 31196382 NM_004960.3:c.646C>T 21261515 19861302 2 1
R234C 16 31196436 NM_004960.3:c.700C>T 19861302 1 1
R234L 16 31196437 NM_004960.3:c.701G>T 19741215 1 0
R244C 16 31196466 NM_004960.3:c.730C>T 19251627 1 0
R383C 16 31201441 NM_004960.3:c.1147C>T 21261515 1 0
R386R 16 31201450 NM_004960.3:c.1156C>A 21261515 1 0
R487C 16 31202349 NM_004960.3:c.1459C>T 22645277 1 0
R495QfsTer? 16 31202373 NM_004960.3:c.1484del 22248478 1 1
R495X 16 31202373 NM_004960.3:c.1483C>T 22244934 23155438 20699327 22645277 20660363 20668259 6 6
R498AfsX32 16 31202375 NM_004960.4:c.1489_1490dup 28429524 1 0
R503Qfs*14 16 31202395 NM_004960.3:c.1506dup 21261515 1 0
R514G 16 31202430 NM_004960.3:c.1540A>G 19251627 1 0
R514R 16 31202430 NM_004960.3:c.1540A>C 19741216 21160488 2 0
R514S 16 31202720 NM_004960.3:c.1542G>T 20577002 19450904 19251627 3 6
R518G 16 31202730 NM_004960.4:c.1552A>G 20138404 1 0
R518K 16 31202731 NM_004960.3:c.1553G>A 19251627 1 0
R521C 16 31202739 NM_004960.3:c.1561C>T 20577002 19965854 19861302 20142531 19251627 20544928 22055719 22878663 21128870 22645277 19251628 20668259 12 6
R521G 16 31202739 NM_004960.3:c.1561C>G 19251627 22055719 20668259 3 0
R521H 16 31202740 NM_004960.3:c.1562G>A 20577002 20472325 23155438 19965854 21158017 19922450 20142531 19251627 22645277 20124201 19251628 20668259 22340366 13 33
R521L 16 31202740 NM_004960.3:c.1562G>T 20577002 20668259 22340366 3 3
R521S 16 31202739 NM_004960.3:c.1561C>A 20577002 1 0
R522G 16 31202742 NM_004960.3:c.1564A>G 19251627 1 0
R522R 16 31202744 NM_004960.3:c.1566G>A 21261515 20142531 2 0
R524G 16 31202748 NM_004960.4:c.1570A>G 29650794 1 0
R524M 16 31202749 NM_004960.3:c.1571G>T 25681989 1 2
R524S 16 31202750 NM_004960.3:c.1572G>C 19251627 20668259 2 2
R524T 16 31202749 NM_004960.3:c.1571G>C 19251627 1 0
R524W 16 31202748 NM_004960.3:c.1570A>T 20385912 1 3
S115N 16 31195538 NM_004960.3:c.344G>A 22645277 1 0
S142N 16 31195619 NM_004960.3:c.425G>A 1 0
S236G 16 31196442 NM_004960.4:c.706A>G 26601740 1 0
S402_P411delinsGGGG 16 31201631 NM_004960.4:c.1204_1232delinsGGAGGTGGAGG 20232451 1 0
S439S 16 31202087 NM_004960.2:c.1317T>C 22292843 1 0
S462F 16 31202155 NM_004960.3:c.1385C>T 20142531 1 0
S513P 16 31202427 NM_004960.4:c.1537T>C 20224596 26823199 2 0
S58del 16 31193959 NM_004960.3:c.169_171del 19741216 1 1
S96del 16 31195275 NM_004960.4:c.287_291delinsAT 20668259 1 1
Ter527TyrextTer1 16 31202753 NM_004960.4:c.1578_1580dup 27604643 1 0
Ter527TyrextTer2 16 31202757 NM_004960.3:c.1581del 22244934 1 1
Y484AfsX32 16 31202336 NM_004960.3:c.1449_1488del 20668259 1 0
Y526C 16 31202755 NM_004960.4:c.1577A>G 25299611 28054830 2 0
Y91Y 16 31195261 NM_004960.3:c.273C>T 21261515 1 0
Y97Y 16 31195279 NM_004960.3:c.291C>T 21261515 1 0

Phenotype

Papers in ALSoD

Pubmed ID First author Year Title
26823199 Akiyama 2016 Genotype-phenotype relationships in familial amyotrophic lateral sclerosiswith FUS/TLS mutations in Japan
20668261 Bäumer 2010 Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations
22248478 Belzil 2012 Novel FUS Deletion in a Patient With Juvenile Amyotrophic Lateral Sclerosis
21160488 Belzil 2010 Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis
21261515 Belzil 2011 Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis
19741216 Belzil 2009 Mutations in FUS cause FALS and SALS in French and French Canadian populations
24325798 Bertolin 2014 Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants
19965854 Blair 2010 FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis
20699327 Bosco 2010 Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules
21158017 Broustal 2010 FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis
22292843 Brown 2012 SOD1, ANG, TARDBP and FUS mutations in Amyotrophic Lateral Sclerosis: a United States clinical testing lab experience
25382069 Cady 2015 Amyotrophic lateral sclerosis onset is inuenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
19450904 Chio 2009 Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
21907581 Conte 2011 P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis
22773853 Conte 2012 Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation
28054830 Corcia 2017 A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS
19861302 Corrado 2010 Mutations of FUS Gene in Sporadic Amyotrophic Lateral Sclerosis
25299611 Couthouis 2014 Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
19922450 Damme 2010 The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS
20232451 DeJesus-Hernandez 2010 De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis
20018407 Drepper 2011 C terminal FUS/TLS mutations in familial and sporadic ALS in Germany
20142531 Groen 2010 FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands
22619056 Hara 2012 Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation
20385912 Hewitt 2010 Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis
27604643 Hou 2016 Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China
20579074 Huang 2010 Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions
26362943 Hubers 2015 De novo FUS mutations are the most frequent genetic cause in early onset German ALS patients
21327942 Ito 2011 Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease
24899262 Kent 2014 Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene
26601740 Kim 2016 Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing
25457557 Kim 2015 De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis
19251627 Kwiatkowski 2009 Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
22244934 Kwon 2012 Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS
20138404 Lai 2011 FUS mutations in sporadic amyotrophic lateral sclerosis
28429524 Liu 2017 The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis
20577002 Millecamps 2010 SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
24841222 Mochizuki 2014 A Japanese patient with familial ALS and a p.K510M mutationin the gene for FUS (FUS) resulting in the totally locked-in state
22980027 Mochizuki 2012 Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement
29650794 Muller 2018 Comprehensive analysis of the mutation spectrum in 301 German ALS families
22999566 Nagayama 2012 Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration
25681989 Özoguz 2015 The distinct genetic pattern of ALS in Turkey and novel mutations
20544928 Rademakers 2010 Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis
20561714 Robertson 2011 A novel double mutation in FUS gene causing sporadic ALS
23847048 Sabatelli 2013 Mutations in the 3 untranslated region of FUS causing FUS over expression are associated with amyotrophic lateral sclerosis
Seleen 2015 Risk factors for amyotrophic lateral sclerosis : Lifestyle, environment and genetics
22055719 Sproviero 2012 FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis
22878663 Suzuki 2012 FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial amyotrophic lateral sclerosis with an R521C FUS/TLS mutation
20224596 Suzuki 2010 FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion
21128870 Syriani 2011 FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population
26176978 Tarlarini 2015 Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis
19741215 Ticozzi 2009 Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
20472325 Tsai 2010 FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS
23155438 van Blitterswijk 2012 Genetic overlap between apparently sporadic motor neuron diseases
22645277 van Blitterswijk 2012 Evidence for an oligogenic basis of amyotrophic lateral sclerosis
20124201 Van Langenhove 2010 Genetic contribution of FUS to frontotemporal lobar degeneration
19251628 Vance 2009 Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
20660363 Waibel 2010 Novel missense and truncating mutations in FUS/TLS in familial ALS
23217123 Waibel 2013 Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: A clinico-genetic study in Germany
22057404 Yamashita 2012 Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS:Possible association of mental retardation with this mutation
20668259 Yan 2010 Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
26972116 Zou 2016 Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin
26519472 Zou 2016 The distinctive genetic architecture of ALS in mainland China
23357624 Zou 2013 Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin
26488017 Zou 2015 Mutations in SOD1 and FUS caused juvenile-onset sporadic amyotrophic lateral sclerosis with aggressive progression
22292798 Zou 2012 Identification of a novel missense mutation in angiogenin in a Chinese amyotrophic lateral sclerosis cohort
22340366 Zou 2012 Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin