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Gene: CFAP45 (cilia and flagella associated protein 45) Homo sapiens

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Symbol:

CFAP45

Name:

cilia and flagella associated protein 45

RGD ID:

1604370

HGNC Page

HGNC:17229

Description:

Enables AMP binding activity. Involved in establishment of left/right asymmetry and flagellated sperm motility. Located in axonemal microtubule and sperm flagellum. Implicated in visceral heterotaxy 11.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CCDC19; cilia- and flagella-associated protein 45; coiled-coil domain containing 19; coiled-coil domain-containing protein 19, mitochondrial; HTX11; nasopharyngeal epithelium specific protein 1 (NESG1); nasopharyngeal epithelium-specific protein 1; NESG1; RP11-190A12.6

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	159,872,364 - 159,900,165 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	159,872,364 - 159,900,165 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	159,842,154 - 159,869,955 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	158,108,778 - 158,136,530 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	132,910,587 - 132,938,343 (-)	NCBI		Celera
Cytogenetic Map	1	q23.2	NCBI
HuRef	1	131,198,847 - 131,226,612 (-)	NCBI		HuRef
CHM1_1	1	161,237,490 - 161,265,234 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	159,009,376 - 159,037,231 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autoimmune interstitial lung, joint, and kidney disease (IAGP)

gastrointestinal stromal tumor (IAGP)

malignant mesothelioma (EXP)

parathyroid carcinoma (IAGP)

visceral heterotaxy 11 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

aldehydo-D-glucose (ISO)

amphetamine (ISO)

atrazine (EXP)

benzo[a]pyrene (ISO)

beta-naphthoflavone (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

bisphenol F (ISO)

Cuprizon (ISO)

D-glucose (ISO)

dextran sulfate (ISO)

Dibutyl phosphate (EXP)

diethylstilbestrol (EXP)

furan (ISO)

gentamycin (ISO)

glucose (ISO)

glyphosate (ISO)

iron dichloride (EXP)

isotretinoin (EXP)

lead(0) (EXP)

MeIQx (EXP)

methimazole (ISO)

N-nitrosodiethylamine (ISO)

okadaic acid (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

phenobarbital (ISO)

sodium arsenite (EXP,ISO)

sodium dichromate (ISO)

sodium fluoride (ISO)

sotorasib (EXP)

streptozocin (ISO)

sulfadimethoxine (ISO)

titanium dioxide (ISO)

trametinib (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cerebrospinal fluid circulation (IEA)

epithelial cilium movement involved in determination of left/right asymmetry (IEA)

establishment of left/right asymmetry (IMP)

flagellated sperm motility (IEA,IMP,ISO,ISS)

regulation of cilium beat frequency involved in ciliary motility (IEA)

Cellular Component

9+0 motile cilium (IEA)

9+2 motile cilium (IDA)

axonemal B tubule inner sheath (IEA,ISS)

axonemal microtubule (IDA,ISS)

axoneme (IDA)

cell projection (IEA)

cilium (IDA,IEA)

cytoplasm (IEA)

cytoskeleton (IEA)

extracellular region (IEA)

motile cilium (IEA)

nucleus (NAS)

polymeric cytoskeletal fiber (IEA)

sperm flagellum (IDA,IEA,ISS)

Molecular Function

AMP binding (IDA)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Asthenopia (IAGP)

Autosomal recessive inheritance (IAGP)

Chronic otitis media (IAGP)

Chronic sinusitis (IAGP)

Congenital onset (IAGP)

Decreased nasal nitric oxide (IAGP)

Duodenal atresia (IAGP)

Gastrointestinal stroma tumor (IAGP)

Intestinal malrotation (IAGP)

Parathyroid carcinoma (IAGP)

Partial atrioventricular canal defect (IAGP)

Polysplenia (IAGP)

Primum atrial septal defect (IAGP)

Reduced progressive sperm motility (IAGP)

Situs inversus totalis (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:10524255	PMID:12477932	PMID:19322201	PMID:20000738	PMID:20639394	PMID:20715168	PMID:22140479	PMID:22997098	PMID:24976536	PMID:26344197	PMID:28514442
PMID:30442369	PMID:31343991	PMID:31429579	PMID:32296183	PMID:33139725	PMID:33788346	PMID:33961781	PMID:34535262	PMID:35575683	PMID:36191189	PMID:37071682	PMID:37236356
PMID:38113892	PMID:38334954	PMID:38697112	PMID:39358380

Genomics

Comparative Map Data

CFAP45
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	159,872,364 - 159,900,165 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	159,872,364 - 159,900,165 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	159,842,154 - 159,869,955 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	158,108,778 - 158,136,530 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	132,910,587 - 132,938,343 (-)	NCBI		Celera
Cytogenetic Map	1	q23.2	NCBI
HuRef	1	131,198,847 - 131,226,612 (-)	NCBI		HuRef
CHM1_1	1	161,237,490 - 161,265,234 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	159,009,376 - 159,037,231 (-)	NCBI		T2T-CHM13v2.0

Cfap45
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	172,348,697 - 172,373,437 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	172,348,368 - 172,373,437 (+)	Ensembl		GRCm39 Ensembl
GRCm38	1	172,521,130 - 172,545,870 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	172,520,801 - 172,545,870 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	174,451,261 - 174,476,001 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	174,357,811 - 174,382,544 (+)	NCBI		MGSCv36	mm8
Celera	1	175,374,886 - 175,400,082 (+)	NCBI		Celera
Cytogenetic Map	1	H3	NCBI
cM Map	1	79.91	NCBI

Cfap45
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	87,521,831 - 87,545,236 (+)	NCBI		GRCr8
GRCr8 Ensembl	13	87,521,518 - 87,545,234 (+)	Ensembl		GRCr8 Ensembl
mRatBN7.2	13	84,989,474 - 85,012,880 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	84,981,728 - 85,012,878 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	87,492,710 - 87,516,101 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	88,892,981 - 88,916,374 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	86,077,721 - 86,101,112 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	90,909,551 - 90,932,958 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	90,909,486 - 90,932,961 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	95,428,824 - 95,452,275 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	88,527,708 - 88,551,091 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	13	84,598,511 - 84,621,911 (+)	NCBI		Celera
Cytogenetic Map	13	q24	NCBI

Cfap45
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955468	11,672,462 - 11,699,245 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955468	11,672,332 - 11,711,395 (-)	NCBI	ChiLan1.0	ChiLan1.0

CFAP45
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	89,954,134 - 89,982,186 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	89,694,157 - 89,722,160 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	135,223,885 - 135,251,829 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	139,144,630 - 139,172,558 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	139,144,634 - 139,172,558 (-)	Ensembl	panpan1.1		panPan2

CFAP45
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	38	22,245,879 - 22,269,363 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	38	22,254,472 - 22,269,322 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	38	22,323,607 - 22,347,206 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	38	22,368,843 - 22,392,770 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	38	22,368,757 - 22,392,729 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.0	38	22,668,511 - 22,692,064 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	38	23,079,342 - 23,103,004 (+)	NCBI		UU_Cfam_GSD_1.0

Cfap45
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	6,015,680 - 6,044,107 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936740	710,076 - 738,701 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936740	710,076 - 738,766 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CFAP45
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	90,593,858 - 90,627,800 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	90,593,864 - 90,626,660 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	98,569,705 - 98,596,559 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CFAP45
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	4,036,029 - 4,078,608 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	4,050,311 - 4,078,587 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	3,107,682 - 3,136,838 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cfap45
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624794	1,352,445 - 1,379,961 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624794	1,344,107 - 1,380,069 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CFAP45
72 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	copy number loss	See cases [RCV000051172]	Chr1:159479887..166895086 [GRCh38] Chr1:159449677..166864323 [GRCh37] Chr1:157716301..165130947 [NCBI36] Chr1:1q23.2-24.1	pathogenic
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]\|See cases [RCV000051851]	Chr1:156664483..160727411 [GRCh38] Chr1:156634275..160697201 [GRCh37] Chr1:154900899..158963825 [NCBI36] Chr1:1q23.1-23.3	pathogenic
NM_012337.2(CFAP45):c.565G>A (p.Glu189Lys)	single nucleotide variant	Malignant melanoma [RCV000064251]	Chr1:159887864 [GRCh38] Chr1:159857654 [GRCh37] Chr1:158124278 [NCBI36] Chr1:1q23.2	not provided
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	copy number gain	See cases [RCV000143515]	Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_012337.3(CFAP45):c.1435C>T (p.Arg479Trp)	single nucleotide variant	not specified [RCV004296607]	Chr1:159873086 [GRCh38] Chr1:159842876 [GRCh37] Chr1:1q23.2	uncertain significance
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	copy number gain	See cases [RCV000051854]	Chr1:157747246..176021247 [GRCh38] Chr1:157717036..175990383 [GRCh37] Chr1:155983660..174257006 [NCBI36] Chr1:1q23.1-25.1	pathogenic
GRCh37/hg19 1q23.2(chr1:159824090-159857739)x1	copy number loss	See cases [RCV000448554]	Chr1:159824090..159857739 [GRCh37] Chr1:1q23.2	likely benign
NM_012337.3(CFAP45):c.1071G>T (p.Glu357Asp)	single nucleotide variant	not specified [RCV004305964]	Chr1:159877436 [GRCh38] Chr1:159847226 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.958G>T (p.Asp320Tyr)	single nucleotide variant	not provided [RCV004691571]\|not specified [RCV004284540]	Chr1:159880640 [GRCh38] Chr1:159850430 [GRCh37] Chr1:1q23.2	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	copy number loss	not provided [RCV000848773]	Chr1:157321299..167391423 [GRCh37] Chr1:1q23.1-24.2	pathogenic
NM_012337.3(CFAP45):c.1447C>A (p.Arg483Ser)	single nucleotide variant	not specified [RCV004307446]	Chr1:159873074 [GRCh38] Chr1:159842864 [GRCh37] Chr1:1q23.2	uncertain significance
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1	copy number loss	not provided [RCV000736717]	Chr1:159815642..177026983 [GRCh37] Chr1:1q23.2-25.2	pathogenic
NM_012337.3(CFAP45):c.665A>G (p.Asp222Gly)	single nucleotide variant	not provided [RCV000974865]	Chr1:159886613 [GRCh38] Chr1:159856403 [GRCh37] Chr1:1q23.2	benign
NM_012337.3(CFAP45):c.157C>A (p.Pro53Thr)	single nucleotide variant	not specified [RCV004302291]	Chr1:159890595 [GRCh38] Chr1:159860385 [GRCh37] Chr1:1q23.2	uncertain significance
GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	copy number gain	not provided [RCV000846649]	Chr1:159808188..161011163 [GRCh37] Chr1:1q23.2-23.3	uncertain significance
NM_012337.3(CFAP45):c.869T>C (p.Met290Thr)	single nucleotide variant	not specified [RCV004315837]	Chr1:159884464 [GRCh38] Chr1:159854254 [GRCh37] Chr1:1q23.2	uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup	duplication	Gastrointestinal stromal tumor [RCV001300221]\|Parathyroid carcinoma [RCV001341077]	Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44	uncertain significance
NC_000001.10:g.(?_158581054)_(162750036_?)dup	duplication	Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]\|not provided [RCV001918953]	Chr1:158581054..162750036 [GRCh37] Chr1:1q23.1-23.3	uncertain significance\|no classifications from unflagged records
NM_012337.3(CFAP45):c.1202A>G (p.Glu401Gly)	single nucleotide variant	not specified [RCV004329113]	Chr1:159876706 [GRCh38] Chr1:159846496 [GRCh37] Chr1:1q23.2	uncertain significance
GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	copy number gain	not provided [RCV002474924]	Chr1:159778364..160770515 [GRCh37] Chr1:1q23.2-23.3	uncertain significance
NM_012337.3(CFAP45):c.1472_1477delinsT (p.Gln491fs)	indel	Heterotaxy, visceral, 11, autosomal, with male infertility [RCV001775192]	Chr1:159873044..159873049 [GRCh38] Chr1:159842834..159842839 [GRCh37] Chr1:1q23.2	pathogenic
NM_012337.3(CFAP45):c.907C>T (p.Arg303Ter)	single nucleotide variant	Heterotaxy, visceral, 11, autosomal, with male infertility [RCV001775190]	Chr1:159880691 [GRCh38] Chr1:159850481 [GRCh37] Chr1:1q23.2	pathogenic
NM_012337.3(CFAP45):c.721C>T (p.Gln241Ter)	single nucleotide variant	Heterotaxy, visceral, 11, autosomal, with male infertility [RCV001775189]	Chr1:159886557 [GRCh38] Chr1:159856347 [GRCh37] Chr1:1q23.2	pathogenic
NM_012337.3(CFAP45):c.452_464del (p.Gln151fs)	deletion	Heterotaxy, visceral, 11, autosomal, with male infertility [RCV001775191]	Chr1:159887965..159887977 [GRCh38] Chr1:159857755..159857767 [GRCh37] Chr1:1q23.2	pathogenic
NM_012337.3(CFAP45):c.1381C>T (p.Arg461Trp)	single nucleotide variant	not specified [RCV004297307]	Chr1:159873140 [GRCh38] Chr1:159842930 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.170T>G (p.Leu57Arg)	single nucleotide variant	not specified [RCV004290975]	Chr1:159890582 [GRCh38] Chr1:159860372 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.949C>T (p.Arg317Cys)	single nucleotide variant	not specified [RCV004216077]	Chr1:159880649 [GRCh38] Chr1:159850439 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.553A>C (p.Met185Leu)	single nucleotide variant	not specified [RCV004147475]	Chr1:159887876 [GRCh38] Chr1:159857666 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1618C>T (p.Arg540Cys)	single nucleotide variant	not specified [RCV004151837]	Chr1:159872523 [GRCh38] Chr1:159842313 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1438C>T (p.Arg480Cys)	single nucleotide variant	not specified [RCV004217084]	Chr1:159873083 [GRCh38] Chr1:159842873 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.551G>A (p.Arg184Gln)	single nucleotide variant	not specified [RCV004178337]	Chr1:159887878 [GRCh38] Chr1:159857668 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.221G>A (p.Arg74His)	single nucleotide variant	not specified [RCV004120679]	Chr1:159890531 [GRCh38] Chr1:159860321 [GRCh37] Chr1:1q23.2	likely benign
NM_012337.3(CFAP45):c.836G>A (p.Arg279Gln)	single nucleotide variant	not specified [RCV004076617]	Chr1:159884497 [GRCh38] Chr1:159854287 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1538G>A (p.Arg513His)	single nucleotide variant	not specified [RCV004076541]	Chr1:159872983 [GRCh38] Chr1:159842773 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.169C>T (p.Leu57Phe)	single nucleotide variant	not specified [RCV004079504]	Chr1:159890583 [GRCh38] Chr1:159860373 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1496A>G (p.Glu499Gly)	single nucleotide variant	not specified [RCV004257527]	Chr1:159873025 [GRCh38] Chr1:159842815 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1524G>C (p.Gln508His)	single nucleotide variant	not specified [RCV004278516]	Chr1:159872997 [GRCh38] Chr1:159842787 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1412G>A (p.Arg471His)	single nucleotide variant	not specified [RCV004250473]	Chr1:159873109 [GRCh38] Chr1:159842899 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1477C>G (p.Arg493Gly)	single nucleotide variant	not specified [RCV004253388]	Chr1:159873044 [GRCh38] Chr1:159842834 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1023G>A (p.Met341Ile)	single nucleotide variant	not specified [RCV004360102]	Chr1:159880575 [GRCh38] Chr1:159850365 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1439G>C (p.Arg480Pro)	single nucleotide variant	not specified [RCV004350362]	Chr1:159873082 [GRCh38] Chr1:159842872 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1543G>A (p.Asp515Asn)	single nucleotide variant	not specified [RCV004615209]	Chr1:159872978 [GRCh38] Chr1:159842768 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.818C>T (p.Ser273Leu)	single nucleotide variant	not specified [RCV005326093]	Chr1:159884515 [GRCh38] Chr1:159854305 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1177C>T (p.Arg393Cys)	single nucleotide variant	not specified [RCV005323830]	Chr1:159876731 [GRCh38] Chr1:159846521 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1537C>T (p.Arg513Cys)	single nucleotide variant	not specified [RCV004071407]	Chr1:159872984 [GRCh38] Chr1:159842774 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1186G>A (p.Glu396Lys)	single nucleotide variant	not specified [RCV004135366]	Chr1:159876722 [GRCh38] Chr1:159846512 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.948G>T (p.Lys316Asn)	single nucleotide variant	not specified [RCV004147743]	Chr1:159880650 [GRCh38] Chr1:159850440 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.125T>C (p.Ile42Thr)	single nucleotide variant	not specified [RCV004158475]	Chr1:159893184 [GRCh38] Chr1:159862974 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.181C>A (p.His61Asn)	single nucleotide variant	not specified [RCV004132716]	Chr1:159890571 [GRCh38] Chr1:159860361 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.205G>A (p.Ala69Thr)	single nucleotide variant	not specified [RCV004132717]	Chr1:159890547 [GRCh38] Chr1:159860337 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1358A>G (p.Gln453Arg)	single nucleotide variant	not specified [RCV004288240]	Chr1:159873163 [GRCh38] Chr1:159842953 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1112G>T (p.Arg371Leu)	single nucleotide variant	not specified [RCV004318137]	Chr1:159877395 [GRCh38] Chr1:159847185 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1177C>A (p.Arg393Ser)	single nucleotide variant	not specified [RCV004349438]	Chr1:159876731 [GRCh38] Chr1:159846521 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1552A>G (p.Lys518Glu)	single nucleotide variant	not specified [RCV004359542]	Chr1:159872969 [GRCh38] Chr1:159842759 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1178G>A (p.Arg393His)	single nucleotide variant	not specified [RCV004339323]	Chr1:159876730 [GRCh38] Chr1:159846520 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1210A>G (p.Arg404Gly)	single nucleotide variant	not specified [RCV004340511]	Chr1:159876698 [GRCh38] Chr1:159846488 [GRCh37] Chr1:1q23.2	uncertain significance
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	copy number loss	not provided [RCV003483944]	Chr1:158001058..162858285 [GRCh37] Chr1:1q23.1-23.3	likely pathogenic
NM_012337.3(CFAP45):c.680G>A (p.Arg227Gln)	single nucleotide variant	not provided [RCV003409182]	Chr1:159886598 [GRCh38] Chr1:159856388 [GRCh37] Chr1:1q23.2	likely benign
NM_012337.3(CFAP45):c.1326C>T (p.Asp442=)	single nucleotide variant	not provided [RCV003409181]	Chr1:159876582 [GRCh38] Chr1:159846372 [GRCh37] Chr1:1q23.2	likely benign
NM_012337.3(CFAP45):c.1521C>T (p.Ala507=)	single nucleotide variant	not provided [RCV003409180]	Chr1:159873000 [GRCh38] Chr1:159842790 [GRCh37] Chr1:1q23.2	likely benign
NM_012337.3(CFAP45):c.43G>C (p.Ala15Pro)	single nucleotide variant	not specified [RCV004431352]	Chr1:159893266 [GRCh38] Chr1:159863056 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.250C>T (p.Arg84Trp)	single nucleotide variant	not specified [RCV004431351]	Chr1:159890502 [GRCh38] Chr1:159860292 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1013A>G (p.Gln338Arg)	single nucleotide variant	not specified [RCV004431346]	Chr1:159880585 [GRCh38] Chr1:159850375 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.775C>T (p.Arg259Trp)	single nucleotide variant	not specified [RCV004431356]	Chr1:159884558 [GRCh38] Chr1:159854348 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1555A>T (p.Arg519Trp)	single nucleotide variant	not specified [RCV004431350]	Chr1:159872966 [GRCh38] Chr1:159842756 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.619C>T (p.Arg207Trp)	single nucleotide variant	not specified [RCV004431355]	Chr1:159886659 [GRCh38] Chr1:159856449 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.515G>A (p.Arg172Gln)	single nucleotide variant	not specified [RCV004431354]	Chr1:159887914 [GRCh38] Chr1:159857704 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1282G>T (p.Val428Leu)	single nucleotide variant	not specified [RCV004431347]	Chr1:159876626 [GRCh38] Chr1:159846416 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1538G>T (p.Arg513Leu)	single nucleotide variant	not specified [RCV004431349]	Chr1:159872983 [GRCh38] Chr1:159842773 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.446T>C (p.Met149Thr)	single nucleotide variant	not specified [RCV004431353]	Chr1:159887983 [GRCh38] Chr1:159857773 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1421A>T (p.His474Leu)	single nucleotide variant	not specified [RCV004615208]	Chr1:159873100 [GRCh38] Chr1:159842890 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.298G>C (p.Glu100Gln)	single nucleotide variant	not specified [RCV004615207]	Chr1:159888471 [GRCh38] Chr1:159858261 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1168C>A (p.Arg390=)	single nucleotide variant	not provided [RCV004722672]	Chr1:159876740 [GRCh38] Chr1:159846530 [GRCh37] Chr1:1q23.2	likely benign
NM_012337.3(CFAP45):c.146A>G (p.Gln49Arg)	single nucleotide variant	not specified [RCV004902074]	Chr1:159890606 [GRCh38] Chr1:159860396 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.93C>G (p.Ser31Arg)	single nucleotide variant	not specified [RCV004902075]	Chr1:159893216 [GRCh38] Chr1:159863006 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1203G>C (p.Glu401Asp)	single nucleotide variant	not specified [RCV004902076]	Chr1:159876705 [GRCh38] Chr1:159846495 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.103G>A (p.Asp35Asn)	single nucleotide variant	not specified [RCV004902080]	Chr1:159893206 [GRCh38] Chr1:159862996 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.197C>A (p.Thr66Asn)	single nucleotide variant	not specified [RCV004902081]	Chr1:159890555 [GRCh38] Chr1:159860345 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1168C>T (p.Arg390Trp)	single nucleotide variant	not specified [RCV004902082]	Chr1:159876740 [GRCh38] Chr1:159846530 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.16G>T (p.Ala6Ser)	single nucleotide variant	not specified [RCV004902083]	Chr1:159893293 [GRCh38] Chr1:159863083 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1247C>G (p.Thr416Arg)	single nucleotide variant	not specified [RCV004902084]	Chr1:159876661 [GRCh38] Chr1:159846451 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.892C>A (p.Leu298Ile)	single nucleotide variant	not specified [RCV004902085]	Chr1:159884441 [GRCh38] Chr1:159854231 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1085G>A (p.Arg362Gln)	single nucleotide variant	not specified [RCV004902078]	Chr1:159877422 [GRCh38] Chr1:159847212 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.371T>C (p.Leu124Pro)	single nucleotide variant	not specified [RCV004902079]	Chr1:159888398 [GRCh38] Chr1:159858188 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1628A>G (p.Asn543Ser)	single nucleotide variant	not specified [RCV004902086]	Chr1:159872513 [GRCh38] Chr1:159842303 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1502G>A (p.Arg501Gln)	single nucleotide variant	not specified [RCV005323821]	Chr1:159873019 [GRCh38] Chr1:159842809 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.955A>G (p.Asn319Asp)	single nucleotide variant	not specified [RCV005323822]	Chr1:159880643 [GRCh38] Chr1:159850433 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.582G>A (p.Met194Ile)	single nucleotide variant	not specified [RCV005323827]	Chr1:159887847 [GRCh38] Chr1:159857637 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.550C>T (p.Arg184Trp)	single nucleotide variant	not specified [RCV005323828]	Chr1:159887879 [GRCh38] Chr1:159857669 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1111C>T (p.Arg371Cys)	single nucleotide variant	not specified [RCV005323823]	Chr1:159877396 [GRCh38] Chr1:159847186 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1262G>A (p.Arg421Gln)	single nucleotide variant	not specified [RCV005323824]	Chr1:159876646 [GRCh38] Chr1:159846436 [GRCh37] Chr1:1q23.2	uncertain significance
NM_012337.3(CFAP45):c.1321C>T (p.Arg441Trp)	single nucleotide variant	not specified [RCV005323829]	Chr1:159876587 [GRCh38] Chr1:159846377 [GRCh37] Chr1:1q23.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1293
Count of miRNA genes:	556
Interacting mature miRNAs:	638
Transcripts:	ENST00000368099, ENST00000426543, ENST00000475911, ENST00000476696, ENST00000479861, ENST00000479940
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407048355	GWAS697331_H	bilirubin measurement QTL GWAS697331 (human)		2e-10	blood bilirubin amount (VT:0001569)	serum total bilirubin level (CMO:0000376)	1	159886639	159886640	Human
1357381	BW57_H	Body weight QTL 57 (human)	1	0.0001	Body weight	fat free mass after exercise training	1	140630236	166630236	Human
597142502	GWAS1238576_H	C-reactive protein measurement QTL GWAS1238576 (human)		2e-08	C-reactive protein amount (VT:0010036)	blood C-reactive protein level (CMO:0003160)	1	159875029	159875030	Human
597262043	GWAS1358117_H	amino acid measurement QTL GWAS1358117 (human)		0.000004	blood amino acid amount (VT:0005311)		1	159883874	159883875	Human
597305894	GWAS1401968_H	neutrophil count QTL GWAS1401968 (human)		2e-104	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	1	159889602	159889603	Human

Markers in Region

AL009554

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	159,846,417 - 159,846,548	UniSTS	GRCh37
Build 36	1	158,113,041 - 158,113,172	RGD	NCBI36
Celera	1	132,914,850 - 132,914,981	RGD
Cytogenetic Map	1	q22	UniSTS
HuRef	1	131,203,110 - 131,203,241	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2429	2780	2246	4923	1699	2320	6	596	1946	438	2265	7228	6451	51	3690	835	1739	1614	171

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_012337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF094758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292249	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL590560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC089391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC109055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000368099 ⟹ ENSP00000357079

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	159,872,364 - 159,900,165 (-)	Ensembl

Ensembl Acc Id:

ENST00000426543 ⟹ ENSP00000403044

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	159,872,366 - 159,898,269 (-)	Ensembl

Ensembl Acc Id:

ENST00000475911

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	159,876,263 - 159,880,700 (-)	Ensembl

Ensembl Acc Id:

ENST00000476696 ⟹ ENSP00000483972

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	159,872,364 - 159,900,125 (-)	Ensembl

Ensembl Acc Id:

ENST00000479861

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	159,872,364 - 159,873,414 (-)	Ensembl

Ensembl Acc Id:

ENST00000479940 ⟹ ENSP00000478944

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	159,886,599 - 159,900,112 (-)	Ensembl

RefSeq Acc Id:

NM_012337 ⟹ NP_036469

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	159,872,364 - 159,900,165 (-)	NCBI
GRCh37	1	159,842,150 - 159,869,992 (-)	NCBI
Build 36	1	158,108,778 - 158,136,530 (-)	NCBI Archive
Celera	1	132,910,587 - 132,938,343 (-)	RGD
HuRef	1	131,198,847 - 131,226,612 (-)	ENTREZGENE
CHM1_1	1	161,237,490 - 161,265,234 (-)	NCBI
T2T-CHM13v2.0	1	159,009,376 - 159,037,231 (-)	NCBI

Sequence:

show sequence

AACACTAGGGCCTTGGCGGCGCCGAGGCGGCAGCAGAAGTCCGGAGTCAGGGCGTGTGGCTGAG
GAGATGCCACTAAGCACAGCTGGCATCCTGAGCTCCTCTTCTGCCGCTTCCAACAGGTCAAGGA
ATAAGGCTCGCTATCGGACCAAAGCCGTGAGCTCTGAGGTGGATGAGAGCCTCTTTGGAGATAT
CAAGTCCCCAGCCCAGGGCCAGAGCGACAGCCCCATTGTGCTGCTCCGAGATAAGCATACCCTT
CAAAAAACTCTCACTGCTTTGGGCTTGGATCGCAAGCCAGAGACCATCCAGCTCATCACCCGGG
ACATGGTCCGAGAACTCATTGTTCCCACAGAGGATCCCTCCGGGGAGTCCCTAATCATCAGCCC
TGAGGAGTTTGAGCGAATCAAATGGGCATCCCATGTCCTGACCAGAGAAGAACTTGAGGCCAGG
GACCAGGCCTTCAAGAAGGAGAAGGAAGCCACCATGGATGCAGTGATGACACGAAAGAAGATCA
TGAAACAGAAGGAGATGGTGTGGAACAACAACAAGAAGCTCAGTGACCTGGAGGAGGTGGCCAA
GGAACGGGCCCAGAACCTCCTGCAGAGAGCCAACAAGCTGCGGATGGAGCAGGAGGAGGAGCTC
AAGGACATGAGCAAGATTATCCTCAATGCTAAGTGCCATGCCATCCGGGATGCCCAAATCCTGG
AGAAGCAGCAGATCCAAAAAGAACTGGACACAGAAGAGAAGCGGTTGGATCAGATGATGGAAGT
GGAGCGGCAGAAATCCATTCAAAGGCAGGAGGAACTGGAGAGGAAGAGGAGGGAGGAAAGAATT
AGAGGAAGGCGGCAAATTGTGGAACAGATGGAAAAGAACCAGGAGGAGCGATCGCTGCTTGCTG
AGCAGCGGGAGCAGGAGAAGGAGCAGATGCTGGAATATATGGAACAGCTCCAAGAGGAAGATCT
AAAGGACATGGAACGAAGGCAGCAACAAAAACTGAAGATGCAAGCTGAGATTAAGCGCATCAAT
GATGAAAACCAGAAACAGAAAGCAGAACTGCTGGCTCAGGAGAAGCTGGCAGACCAGATGGTGA
TGGAGTTTACCAAGAAGAAGATGGCTCGAGAAGCAGAGTTTGAGGCTGAGCAGGAGAGAATCCG
GAGGGAGAAAGAGAAGGAGATCGCACGCTTGAGGGCCATGCAGGAGAAGGCCCAGGATTACCAG
GCAGAACAGGATGCCTTGCGGGCCAAGCGCAACCAGGAGGTTGCAGACAGAGAGTGGCGCAGAA
AGGAAAAGGAAAATGCGCGGAAGAAGATGGAAACAGAGGCTGAGCTGCGAAAAAGTCGGCTCGA
ACAGGTGGCTTTCAAGGAGCACGCTCTGGCTGTTCAGGTGCAACGGGACCGGGATGAGTTCGAG
AGGATTCTTCGGGCTCAGAGAGAACAGATTGAGAAGGAGCGGCTGGAGGAGGAGAAAAAGGCCA
CAGGGCGCTTACAGCATGCCAATGAGCTCCGGCGCCAGGTGCGCGAGAACCAGCAGAAGGAAGT
GCAGAACCGGATTGCCACCTTTGAGGAGGGCCGGCGCCTCAAAGAGGAGGCCCAGAAACGCCGT
GAGCGCATCGATGAGATCAAGAGGAAAAAGCTTGAAGAGCTGAGAGCCACTGGCCTTCCCGAGA
AGTACTGCATTGAAGCTGAGCGCAAAGCTAACATCCTGCCAGCTACCTCTGTGAACTGAGGGGA
GCCTTCGTGGCCCTCAGGATGCCTTCGGGGGACAGATTCTGCCCAGTCTCTGGGCATCCATAAT
TGCTGCTAACCTAGACATTTCATAGTTACAGATTAAATCTACTTGACTTTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_036469	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD55817	(Get FASTA)	NCBI Sequence Viewer
	AAH89391	(Get FASTA)	NCBI Sequence Viewer
	BAF84938	(Get FASTA)	NCBI Sequence Viewer
	EAW52765	(Get FASTA)	NCBI Sequence Viewer
	EAW52766	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000357079
	ENSP00000357079.4
	ENSP00000403044.2
GenBank Protein	Q9UL16	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_036469 ⟸ NM_012337

- UniProtKB:

Q05BA3 (UniProtKB/Swiss-Prot), C9JH28 (UniProtKB/Swiss-Prot), Q5VU18 (UniProtKB/Swiss-Prot), Q9UL16 (UniProtKB/Swiss-Prot), A8K884 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MPLSTAGILSSSSAASNRSRNKARYRTKAVSSEVDESLFGDIKSPAQGQSDSPIVLLRDKHTLQ
KTLTALGLDRKPETIQLITRDMVRELIVPTEDPSGESLIISPEEFERIKWASHVLTREELEARD
QAFKKEKEATMDAVMTRKKIMKQKEMVWNNNKKLSDLEEVAKERAQNLLQRANKLRMEQEEELK
DMSKIILNAKCHAIRDAQILEKQQIQKELDTEEKRLDQMMEVERQKSIQRQEELERKRREERIR
GRRQIVEQMEKNQEERSLLAEQREQEKEQMLEYMEQLQEEDLKDMERRQQQKLKMQAEIKRIND
ENQKQKAELLAQEKLADQMVMEFTKKKMAREAEFEAEQERIRREKEKEIARLRAMQEKAQDYQA
EQDALRAKRNQEVADREWRRKEKENARKKMETEAELRKSRLEQVAFKEHALAVQVQRDRDEFER
ILRAQREQIEKERLEEEKKATGRLQHANELRRQVRENQQKEVQNRIATFEEGRRLKEEAQKRRE
RIDEIKRKKLEELRATGLPEKYCIEAERKANILPATSVN

hide sequence

Ensembl Acc Id:

ENSP00000403044 ⟸ ENST00000426543

Ensembl Acc Id:

ENSP00000478944 ⟸ ENST00000479940

Ensembl Acc Id:

ENSP00000357079 ⟸ ENST00000368099

Ensembl Acc Id:

ENSP00000483972 ⟸ ENST00000476696

Protein Domains

Trichohyalin-plectin-homology

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UL16-F1-model_v2	AlphaFold	Q9UL16	1-551	view protein structure

Promoters

RGD ID:

6784881

Promoter ID:

HG_KWN:5715

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

ENST00000368099, OTTHUMT00000085980, OTTHUMT00000085981, UC001FUK.1, UC009WTC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	158,136,561 - 158,137,061 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17229	AgrOrtholog
COSMIC	CFAP45	COSMIC
Ensembl Genes	ENSG00000213085	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000368099	ENTREZGENE
	ENST00000368099.9	UniProtKB/Swiss-Prot
	ENST00000426543.6	UniProtKB/Swiss-Prot
GTEx	ENSG00000213085	GTEx
HGNC ID	HGNC:17229	ENTREZGENE
Human Proteome Map	CFAP45	Human Proteome Map
InterPro	CFAP45	UniProtKB/Swiss-Prot
	TPH_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:25790	UniProtKB/Swiss-Prot
NCBI Gene	25790	ENTREZGENE
OMIM	605152	OMIM
PANTHER	CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 45	UniProtKB/Swiss-Prot
	PTHR15504	UniProtKB/Swiss-Prot
Pfam	TPH	UniProtKB/Swiss-Prot
PharmGKB	PA142672179	PharmGKB
UniProt	A0A087WUV1_HUMAN	UniProtKB/TrEMBL
	A0A087X182_HUMAN	UniProtKB/TrEMBL
	A8K884	ENTREZGENE, UniProtKB/TrEMBL
	C9JH28	ENTREZGENE
	CFA45_HUMAN	UniProtKB/Swiss-Prot
	Q05BA3	ENTREZGENE
	Q5VU18	ENTREZGENE
	Q9UL16	ENTREZGENE
UniProt Secondary	C9JH28	UniProtKB/Swiss-Prot
	Q05BA3	UniProtKB/Swiss-Prot
	Q5VU18	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2014-08-20	CFAP45	cilia and flagella associated protein 45	CCDC19	coiled-coil domain containing 19	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar