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Gene id 80217
Gene Summary     SNPs    Diseases    PubMed    

Gene Summary
Gene Symbol CFAP43   Gene   UCSC   Ensembl
Aliases C10orf79, SPGF19, WDR96, bA373N18.2
Gene name cilia and flagella associated protein 43
Alternate names cilia- and flagella-associated protein 43, WD repeat domain 96, WD repeat-containing protein 96, WD repeat-containing protein C10orf79,
Gene location 10q25.1 (104232382: 104129887)     Exons: 37     NC_000003.12
Gene summary(Entrez) This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]
OMIM 617558

SNPs
rs1131692266

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104225491G>T
NC_000010.10   g.105985249G>T
NG_051581.1   g.11887C>A
NM_025145.6   c.386C>A
NM_025145.5   c.386C>A
XM_005270172.3   c.386C>A
XM_005270172.1   c.386C>A
XM_011540196.2   c.386C>A
XM_011540197.2   c.386C>A
XM_005270171.2   c.386C>A
XM_005270  

rs768831533

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104143452G>A
NC_000010.11   g.104143452G>C
NC_000010.11   g.104143452G>T
NC_000010.10   g.105903210G>A
NC_000010.10   g.105903210G>C
NC_000010.10   g.105903210G>T
NG_051581.1   g.93926C>T
NG_051581.1   g.93926C>G
NG_051581.1   g.93926C>A
NM_025145.6   c

rs376788209

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104230656G>A
NC_000010.10   g.105990414G>A
NG_051581.1   g.6722C>T
NM_025145.6   c.253C>T
NM_025145.5   c.253C>T
XM_005270172.3   c.253C>T
XM_005270172.1   c.253C>T
XM_011540196.2   c.253C>T
XM_011540197.2   c.253C>T
XM_005270171.2   c.253C>T
XM_0052701  

rs373911488

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104167627A>G
NC_000010.11   g.104167627A>T
NC_000010.10   g.105927385A>G
NC_000010.10   g.105927385A>T
NG_051581.1   g.69751T>C
NG_051581.1   g.69751T>A
NM_025145.6   c.2802T>C
NM_025145.6   c.2802T>A
NM_025145.5   c.2802T>C
NM_025145.5   c.2802T>A
XM_0  

Diseases

Expand All | Collapse All
Associated diseases References
Alzheimer's disease GAD: 16385451
Attention deficit hyperactivity disorder (ADHD) GAD: 18839057
Spermatogenesis defects KEGG: H01282
Multiple morphological anomalies of sperm flagella (MMAF) MIK: 29277146
Cryptorchidism MIK: 28606200
Male Infertility MIK: 29449551
Multiple morphological abnormalities of the sperm flagella (MMAF) MIK: 29277146
Sperm motility defects MIK: 29713536
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29277146 Multiple m
orphologic
al abnorma
lities of
the sperm
flagella (
MMAF)
 CFAP44 mutations (3 homozygous: c.2935_2944del: p.D979*, c.T1769A: p.L590Q, c.2005_2006del: p.M669Vfs*13; and putative compound heterozygous: c.G3262A: p.G1088S and c.C1718A: p.P573H.), CFAP43 (c.3661-2A>-)
27 patients wit
h MMAF
 Male infertility CFAP43
CFAP44 
 Show abstract
29713536 Sperm moti
lity defec
ts
 [c.2802?T?>?A (p.Cys934*)], [c.4132C?>?T (p.Arg1378*)], [c.253C?>?T (p.Arg85Trp)], [c.3945_4431del (p.Ile1316Leufs*10)], [c.386C?>?A (p.Ser129Tyr)]

Male infertility NGS
 Show abstract
28552195 Multiple M
orphologic
al Abnorma
lities of
the Sperm
Flagella
 [c.2802T>A (p.Cys934?)], [c.4132C>T (p.Arg1378?)], [c.253C>T (p.Arg85Trp)], [c.3945_4431del (p.Ile1316Leufs?10)], [c.386C>A (p.Ser129Tyr)], [c.2802T>A (p.Cys934?)] Hans Ch
inese
 30
 Male infertility NGS
 Show abstract
30904354 Multiple m
orphologic
al abnorma
lities of
the sperm
flagella (
MMAF)
 c.1140_1143del: p.Asn380Lysfs*3, c.739A>T: p.Lys247*, c.1474G>C: p.Gln492Arg; c.4600C>G: p.Leu1534Val, Chinese
 13 with MMAF
 Male infertility NGS
 Show abstract
29449551 Male Infer
tility
 c.3541?2A>C (p.Ser1181Lysfs*4), c.1240_1241delGT (p.Val414LeufsTer46), c.2658G>A (p.Trp886Ter), c.2680C>T (p.Arg894Ter), c.3882delA (p.Glu1294AspfsTer47 ), c.3352C>T (p.Arg1118Ter), c.1302dupT (p.Leu435SerfsTer26 ), c.1040T>C (p.Val347Ala), c.2141+5G>A (p Tunisia
, Afgha
nistan,
Iran,
Algeria
, Franc
e, Turk
ey, Mor
occo, I
ran, Fr
ance
 78 MMAF
 Male infertility
Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
31037746 Spermatoge
nic defect
s
28 men with az
oospermia
 Male infertility Microarray
 Show abstract