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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CXorf40A Gene

protein-coding GIFtS: 45
GCID: GC0XP148623

chromosome X open reading frame 40A

(Previous name: chromosome X open reading frame 40 )
(Previous symbol: CXorf40)

Explore 4 diseases affiliated with
CXorf40A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Chromosome X Open Reading Frame 40A¹ ²
CXorf40¹ ² ³
EOLA1¹ ² ³
Endothelial-Overexpressed Lipopolysaccharide-Associated Factor 1² ³
Chromosome X Open Reading Frame 40¹
Protein CXorf40A²

External Ids:	HGNC: 28089¹	Entrez Gene: 91966²	Ensembl: ENSG00000197620⁷	UniProtKB: Q8TE69³

Export aliases for CXorf40A gene to outside databases

Previous GC identifers: GC0XP148328 GC0XP148432 GC0XP137575

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CX04A_HUMAN, Q8TE69

Function: May have an important role of cell protection in inflammation reaction

Gene Wiki entry for CXorf40A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011681.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CXorf40A gene promoter:
Max1 Elk-1 AP-1 Ik-3 E47 CREB deltaCREB FOXO1a FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CXorf40A promoter sequence

Search SABiosciences Chromatin IP Primers for CXorf40A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CXorf40A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

CXorf40A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CXorf40A gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP148623: view genomic region (about GC identifiers)

Start:	148,621,900 bp from pter	End:	148,632,086 bp from pter
Size:	10,187 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CX04A_HUMAN, Q8TE69 (See protein sequence)

Recommended Name: Protein CXorf40A

Size: 158 amino acids; 17891 Da

Subunit: Interacts with MT2A

Secondary accessions: A8K784 B7ZL96 Q2M3E9

Explore the universe of human proteins at neXtProt for CXorf40A: NX_Q8TE69

CXorf40A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001165378.1 NP_001165379.1 NP_001165380.1 NP_835225.2

ENSEMBL proteins:

ENSP00000423447 ENSP00000427540 ENSP00000423099 ENSP00000421745 ENSP00000422512

ENSP00000425520 ENSP00000423160 ENSP00000423708 ENSP00000426158 ENSP00000422312

ENSP00000420882

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CXorf40A for domains About GeneDecksing

2 InterPro domains/families:

IPR007374 ASCH_domain

IPR015947 PUA-like_domain

Graphical View of Domain Structure for InterPro Entry Q8TE69

ProtoNet protein and cluster: Q8TE69

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CX04A_HUMAN, Q8TE69

Function: May have an important role of cell protection in inflammation reaction

miRNA Products:		OriGene 3'-UTR Clone: CXorf40A Browse MicroRNA Expression Plasmids
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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	15541360

CXorf40A for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CXorf40A:

Synthetic lethal with Ras

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CXorf40A

1 Interacting protein for CXorf40A (Q8TE69^{1, 3}) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MT2A	P02795¹^,³	EBI-996609,EBI-996616 I2D: score=2

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CXorf40A
Search CenterWatch for drugs/clinical trials and news about CXorf40A / CX04A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for CXorf40A gene (4 alternative transcripts):

NM_001171907.1 NM_001171908.1 NM_001171909.1 NM_178124.4

Unigene Cluster for CXorf40A:

Chromosome X open reading frame 40A

Hs.534641 [show with all ESTs]

Unigene Representative Sequence: AK055235

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000431132 ENST00000450602 ENST00000441248(uc004fdg.3 uc004fdf.3 uc011mxm.2)

ENST00000393985 ENST00000423421 ENST00000423540 ENST00000434353 ENST00000514208(uc022cgi.1)

ENST00000448332 ENST00000428236 ENST00000422892 ENST00000359293

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Additional cDNA sequence:

AK055235.1 AK291899.1 AK294153.1 AK300334.1 AY074889.1 BC065539.1 BC104930.1 BC104932.1

BC143660.1 BC143661.1 BC143662.1 U66049.1 U66050.1 U66053.1 U66054.1

24/27 DOTS entries (see all 27):

DT.86855295 DT.405639 DT.121299174 DT.101977157 DT.100815530 DT.95366195 DT.121321380 DT.95366192

DT.92450179 DT.100815526 DT.121321319 DT.100702196 DT.100815531 DT.100815520 DT.75103911 DT.95366206

DT.100768177 DT.92450175 DT.95366191 DT.95366205 DT.100681245 DT.100708927 DT.121299164 DT.121299268

24/162 AceView cDNA sequences (see all 162):

CR593214 BQ230720 BM918351 BQ925476 BQ774510 CF528161 T24925 BE296710

AI168047 CR614798 BF195198 AK055235 AL519745 F09153 AI923185 AA999744

AW872404 CR603774 CR614537 BM825187 BQ215970 BC065539 L43579 U66049

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CXorf40A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CXorf40A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Diencephalic Roof Plate

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CXorf40A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CXorf40A

SOURCE GeneReport for Unigene cluster: Hs.534641

UniProtKB/Swiss-Prot: CX04A_HUMAN, Q8TE69

Tissue specificity: Expressed primarily in heart, skeletal muscle, kidney, liver and placenta. Relatively high level of

expression in spleen, colon and small intestine. Almost no expression in brain, thymus, lung and peripheral blood

leukocytes

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CXorf40A gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC772269¹	protein CXorf40A-like	66.45(n) 67.32(a)		772269 XM_001234387.2 XP_001234388.2
lizard (Anolis carolinensis)	Reptilia	--	--	65(a)	1 → many	GL343310.1(1054059-1055256)
African clawed frog (Xenopus laevis)	Amphibia	Xl.16160²	Xenopus laevis transcribed sequences	74.73(n)		BJ095085.1
zebrafish (Danio rerio)	Actinopterygii	zgc:110222¹	zgc:110222	57.36(n) 59.09(a)		550336 NM_001017643.1 NP_001017643.1

ENSEMBL Gene Tree for CXorf40A (if available)
TreeFam Gene Tree for CXorf40A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CXorf40A gene

CXorf40B¹ ²

1 SIMAP similar gene for CXorf40A using alignment to 6 protein entries: CX04A_HUMAN (see all proteins):

CXorf40B

CXorf40A for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for CXorf40A
PGOHUM00000249955 PGOHUM00000244819 PGOHUM00000250047

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12007554^1,2	C,H,,	--	148620567(+)	`TTAGGC/TCGGAG`	4	--	int¹ us2k¹		0	--	--	--	--
rs139073580^1,2		--	148620633(+)	`AGAGAC/TGGTTC`	4	--	us2k¹ int¹		0	--	--	--	--
rs143448679^1,2		--	148620735(+)	`TGCATA/GGACCC`	4	--	int¹ us2k¹		0	--	--	--	--
rs183312180^1,2		--	148620755(+)	`GTTCCC/TGCCCT`	4	--	us2k¹ int¹		0	--	--	--	--
rs111817192^1,2	C,	--	148620788(+)	`GGGGGA/TAGACA`	4	--	us2k¹ int¹		1		CSA	1
rs34027656^1,2		--	148620815(+)	`GTCGCC/TGCGGG`	4	--	int¹ us2k¹		1		NA	2
rs34851745^1,2		--	148620821(+)	`GCGGGA/CAAGTT`	4	--	us2k¹ int¹		1		NA	2
rs187805349^1,2		--	148620845(+)	`AAGGGC/TGCATC`	4	--	us2k¹ int¹		0	--	--	--	--
rs12115869^1,2	C,	--	148620887(+)	`cacccC/Acagct`	4	--	int¹ us2k¹		1		CSA	1
rs12116311^1,2	C,	--	148621047(+)	`CTCCTT/CTTGCA`	4	--	us2k¹ int¹ trp³		1		CSA	1

HapMap Linkage Disequilibrium report for CXorf40A (148621900 - 148632086 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CXorf40A: --

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CXorf40A

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CXorf40A for disorders About GeneDecksing

4 diseases for CXorf40A: About MalaCards

ataxia telangiectasia intrahepatic cholangiocarcinoma cholangiocarcinoma ataxia

2 Novoseek disease relationships for CXorf40A gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
inflammation	12.4	3	15541360 (1), 16215939 (1)
cancer	0	2	15541360 (1), 16215939 (1)

Export disorders for CXorf40A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CXorf40A gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with CXorf40A)

Utopia: connect your pdf to the dynamic
world of online information

130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. (PubMed id 8717057)^{1, 2, 3} Timms K.M.... Gibbs R.A. (1995)
[Purification of human endothelial overexpressed lipopolysaccharide-associated factor 1 protein] (PubMed id 16383041)^{1, 3, 9} Cai Z....Su Y.Y. (2005)
Identification and characterization of a novel gene EOLA1 stimulating ECV304 cell proliferation. (PubMed id 15541360)^{1, 2, 9} Liang Z. and Yang Z. (2004)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Molecular and phenotypic variation in patients with severe Hunter syndrome. (PubMed id 9147653)^{1, 3} Timms K.M.... Gibbs R.A. (1997)
[Identification and characterization of a novel gene EOLA1 stimulating ECV304 cell proliferation] (PubMed id 16215939)^{1, 9} Liang Z.W....Luo X.D. (2005)
[The effect of inhibiting EOLA1 expression in ECV304 cells] (PubMed id 17557240)^{1, 9} Liang Z.W....Wang X.M. (2007)
[Subcellular localization of human endothelial-overexp ressed lipopolysaccharide-associated factor 1 protein]. (PubMed id 21223654)¹ Luo M....Luo X.D. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 91966	HGNC: 28089	AceView: CXorf40	Ensembl:ENSG00000197620	euGenes: HUgn91966
ECgene: CXorf40A	H-InvDB: CXorf40A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CXorf40A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CXorf40A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CXorf40A gene:
Search GeneIP for patents involving CXorf40A

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	Browse OriGene Antibodies		OriGene shRNA RFP for CXorf40A
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CXorf40A		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CXorf40A
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CXorf40A
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	GenScript Custom Purified and Recombinant Proteins Services for CXorf40A		GenScript cDNA clones with any tag delivered in your preferred vector for CXorf40A
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CXorf40A

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ThermoFisher Antibody for CXorf40A

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CXorf40A

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CXorf40A gene at Home site.

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CXorf40A Gene

chromosome X open reading frame 40A

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CXorf40A Gene

chromosome X open reading frame 40A

Aliasesfor CXorf40A gene

Summariesfor CXorf40A gene

Genomic Viewsfor CXorf40A gene

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Protein Domains /Familiesfor CXorf40A gene

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for CXorf40A gene

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for CXorf40A gene

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for CXorf40A gene

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