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SVEP1 Gene

protein-coding GIFtS: 49
GCID: GC09M113127

Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain...

(Previous name: chromosome 9 open reading frame 13)
(Previous symbol: C9orf13)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1¹ ²		CCP Module-Containing Protein 22² ³
C9orf13¹ ² ³		POLYDOM² ⁵
SELOB² ³ ⁵		Chromosome 9 Open Reading Frame 13¹
Selectin-Like Osteoblast-Derived Protein² ³		Selectin-Like Protein²
Serologically Defined Breast Cancer Antigen NY-BR-38² ³		Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain-Containing Protein 1²
CCP22² ³		Polydom³
SEL-OB² ³

External Ids:	HGNC: 15985¹	Entrez Gene: 79987²	Ensembl: ENSG00000165124⁷	OMIM: 611691⁵	UniProtKB: Q4LDE5³

Export aliases for SVEP1 gene to outside databases

Previous GC identifers: GC09U900662 GC09M110209 GC09M112167 GC09M082729

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SVEP1 Gene:

SVEP1 (sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1) is a protein-coding gene. Diseases associated with SVEP1 include breast cancer, and hirschsprung's disease. GO annotations related to this gene include chromatin binding and calcium ion binding. An important paralog of this gene is CSMD1.

UniProtKB/Swiss-Prot: SVEP1_HUMAN, Q4LDE5

Function: May play a role in the cell attachment process (By similarity)

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000009.12 NC_018920.2 NT_008470.20

Regulatory elements:

Regulatory transcription factor binding sites in the SVEP1 gene promoter:
AhR STAT1 Pax-2 STAT1beta AP-4 Pax-2a LCR-F1 STAT1alpha Max c-Myc
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for SVEP1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SVEP1

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

Entrez Gene cytogenetic band: 9q32 Ensembl cytogenetic band: 9q31.3 HGNC cytogenetic band: 9q31-q32

SVEP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SVEP1 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M113127: view genomic region (about GC identifiers)

Start:	113,127,528 bp from pter	End:	113,342,160 bp from pter
Size:	214,633 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SVEP1_HUMAN, Q4LDE5 (See protein sequence)

Recommended Name: Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 precursor

Size: 3571 amino acids; 390170 Da

Sequence caution: Sequence=AAG48257.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAG48257.1; Type=Frameshift; Positions=2630, 2638, 2655; Sequence=BAB14617.1; Type=Erroneous initiation;

Note=Translation N-terminally extended; Sequence=BAB55420.1; Type=Erroneous initiation; Note=Translation

N-terminally extended; Sequence=CAH73557.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=CAH73558.1; Type=Erroneous gene model prediction; Sequence=CAH74138.1; Type=Erroneous initiation;

Note=Translation N-terminally extended; Sequence=CAH74139.1; Type=Erroneous gene model prediction;

Sequence=CAI14068.1; Type=Erroneous gene model prediction;

Secondary accessions: Q0P675 Q5D213 Q5T938 Q5VTE4 Q5VTE5 Q7Z387 Q7Z3G3 Q8NBT9 Q96JU7 Q9H284

Q9H8J9

Alternative splicing: 4 isoforms: Q4LDE5-1 Q4LDE5-2 Q4LDE5-3 Q4LDE5-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SVEP1: NX_Q4LDE5

Explore proteomics data for SVEP1 at MOPED

Post-translational modifications:

O-glycosylated with core 1 or possibly core 8 glycans¹

Glycosylation² at Asn186, Asn847, Asn1102, Asn3018, Asn3186

Modification sites at PhosphoSitePlus

See SVEP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_699197.3

ENSEMBL proteins:

ENSP00000297826 ENSP00000363593 ENSP00000363585 ENSP00000384917 ENSP00000304118

SVEP1 Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

SVEP1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Novus Biologicals SVEP1 Antibodies
	Abcam antibodies for SVEP1
	Browse Antibodies at Cloud-Clone Corp.
	Search ThermoFisher Antibodies for SVEP1
	Search LSBio for Antibodies for SVEP1

SVEP1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for SVEP1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SVEP1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 14):

IPR011641 Tyr-kin_ephrin_A/B_rcpt-like

IPR001881 EGF-like_Ca-bd_dom

IPR000742 EG-like_dom

IPR013320 ConA-like_subgrp

IPR009030 Growth_fac_rcpt_N_dom

Graphical View of Domain Structure for InterPro Entry Q4LDE5

ProtoNet protein and cluster: Q4LDE5

2 Blocks protein domains:

IPB001759 Pentaxin

IPB001881 EGF-like calcium-binding

UniProtKB/Swiss-Prot: SVEP1_HUMAN, Q4LDE5

Similarity: Contains 9 EGF-like domains

Similarity: Contains 2 HYR domains

Similarity: Contains 1 pentaxin domain

Similarity: Contains 34 Sushi (CCP/SCR) domains

Similarity: Contains 1 VWFA domain

SVEP1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: SVEP1_HUMAN, Q4LDE5

Function: May play a role in the cell attachment process (By similarity)

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003682	chromatin binding	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	--	--

SVEP1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for SVEP1:

Decreased viability with pacli

Synthetic lethal with Ras

1 MGI phenotypic allele

for Svep1 (no phenotypes)

SVEP1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SVEP1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SVEP1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SVEP1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SVEP1

miRNA Products:		Block miRNA regulation of human, mouse, rat SVEP1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SVEP1 (see all 32):
		hsa-miR-495 hsa-miR-15a hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-103a

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SVEP1
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Gene Editing
Products:

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		GenScript: all cDNA clones in your preferred vector: SVEP1 (NM_153366)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SVEP1
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SVEP1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SVEP1
		Browse ESI BIO Cell Lines and PureStem Progenitors for SVEP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SVEP1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

SVEP1_HUMAN, Q4LDE5: Secreted (Potential). Cytoplasm. Membrane; Peripheral membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	3
extracellular	3
plasma membrane	3
endoplasmic reticulum	1
mitochondrion	1
nucleus	1

About this image

Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0016020	membrane	IEA	--

SVEP1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for SVEP1
Interactions:

Search GeneGlobe Interaction Network for SVEP1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for SVEP1 (Q4LDE5³ ENSP00000384917⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD3	P84022³, ENSP00000332973⁴	I2D: score=3 STRING: ENSP00000332973
SKIL	P12757³, ENSP00000259119⁴	I2D: score=5 STRING: ENSP00000259119
SMAD9	O15198³, ENSP00000369154⁴	I2D: score=3 STRING: ENSP00000369154
ZFYVE9	O95405³, ENSP00000287727⁴	I2D: score=3 STRING: ENSP00000287727
ATF7IP	Q6VMQ6³	I2D: score=3

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Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--

SVEP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for SVEP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SVEP1 gene:

NM_153366.3

Unigene Cluster for SVEP1:

Sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

Hs.522334 [show with all ESTs]

Unigene Representative Sequence: NM_153366

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

ENST00000297826 ENST00000374469 ENST00000476205 ENST00000467821 ENST00000374461(uc004bev.3 uc004beu.2)

ENST00000401783(uc010mty.3 uc010mtz.3) ENST00000302728(uc010mua.1)

miRNA Products:		Block miRNA regulation of human, mouse, rat SVEP1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SVEP1 (see all 32):
		hsa-miR-495 hsa-miR-15a hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-103a

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SVEP1
		Predesigned siRNA for gene silencing in human, mouse, rat SVEP1

Clone Products:		OriGene clones in human, mouse for SVEP1 (see all 5) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SVEP1 (NM_153366)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SVEP1
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Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for SVEP1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat SVEP1
		QuantiTect SYBR Green Assays in human, mouse, rat SVEP1
		QuantiFast Probe-based Assays in human, mouse, rat SVEP1

Additional mRNA sequence:

AF308289.1 AJ619977.1 AK075200.1 AK075234.1 AK122605.1 AL079279.1 AL832416.1 AY243503.1

AY916667.1 BC030816.1

14 DOTS entries:

DT.40281191 DT.101980266 DT.408476 DT.447914 DT.95159539 DT.100025504 DT.121164814 DT.309188

DT.40231486 DT.425629 DT.95159537 DT.309187 DT.40107578 DT.100017215

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for SVEP1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15
SP1:
SP2:					-

ECgene alternative splicing isoforms for SVEP1

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SVEP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTAGGGCTCT

About this image

SVEP1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 5) fully expand


Bone (Muscoskeletal System) fully expand to see all 2 entries
Mesenchymal Condensate Cells Zeugopod
Zeugopod Periosteum

Limb (Muscoskeletal System)
Mesenchymal Condensate Cells Zeugopod

Cartilage (Muscoskeletal System)
Mesenchymal Condensate Cells Zeugopod

Brain (Nervous System)
Cerebellum

Placenta (Extraembryonic Tissues)

SVEP1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SVEP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.522334

UniProtKB/Swiss-Prot: SVEP1_HUMAN, Q4LDE5

Tissue specificity: Present in mesenchymal primary cultured cell lysates (at protein level). Highly expressed in

placenta. Also expressed in marrow stromal cell. Weakly or not expressed in other tissues

Custom PCR Arrays for SVEP1

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		QuantiFast Probe-based Assays in human, mouse, rat SVEP1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SVEP1

(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)
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This gene was present in the common ancestor of animals.

Orthologs for SVEP1 gene from Selected species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Svep1^{1 , 5}	sushi, von Willebrand factor type A, EGF and pentraxin more^{1, 5}	82.68(n)¹ 81.88(a)¹		4 (31.87 cM)⁵ 64817¹ NM_022814.2¹ NP_073725.2¹ 58042442⁵
chicken (Gallus gallus)	Aves	SVEP1¹	sushi, von Willebrand factor type A, EGF and pentraxin more	71.67(n) 71.46(a)		427338 XM_424917.4 XP_424917.4
lizard (Anolis carolinensis)	Reptilia	SVEP1⁶	sushi, von Willebrand factor type A, EGF and pentr...	67(a)	1 ↔ 1	GL343476.1(23931-165299)
tropical clawed frog (Xenopus tropicalis)	Amphibia	svep1¹	sushi, von Willebrand factor type A, EGF and pentraxin more	64.32(n) 60.79(a)		100493788 XM_002942621.2 XP_002942667.2
zebrafish (Danio rerio)	Actinopterygii	LOC567357¹	sushi, von Willebrand factor type A, EGF and pentraxin more	57.66(n) 52.43(a)		567357 XM_690650.6 XP_695742.6
fruit fly (Drosophila melanogaster)	Insecta	hig⁶	hikaru genki	18(a)	1 → many	2R(5115286-5134752)
worm (Caenorhabditis elegans)	Secernentea	lev-9⁶	Protein LEV-9 (lev-9) mRNA, complete cds	24(a)	1 → many	X(6286453-6291732) WBGene00002976

ENSEMBL Gene Tree for SVEP1 (if available)
TreeFam Gene Tree for SVEP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SVEP1 gene

CSMD1² SELP² C4BPA² CR2² SELL² CSMD3² CR1L² APOH²

SELE² CSMD2² CD46² CD55² CR1²

6 SIMAP similar genes for SVEP1 using alignment to 3 protein entries: SVEP1_HUMAN (see all proteins):

NOTCH3 F9 C4BPA DLK2 NOTCH2NL DLK1

SVEP1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs55831759^1,2	C	--	82872809(+)	`AAAAA-/A/AA GAAAG`	1	--	int¹		1		NA	2
rs7855615^1,2	C,F,H	--	113127040(+)	`ATACAA/TATTCC`	1	--	ds500¹		11		NS EA NA WA CSA	666
rs191829122^1,2		--	113127159(+)	`TGGGGA/CTGTAT`	1	--	ds500¹		0	--	--	--	--
rs10980345^1,2	C,F,A,H	--	113127180(+)	`TTTCTT/CTTTGA`	1	--	ds500¹		10		NS EA NA WA	756
rs12340174^1,2	C,F,H	--	113127215(+)	`tggtgC/Agatct`	1	--	ds500¹		6		NS EA WA NA	508
rs184772221^1,2		--	113127226(+)	`GGGCTC/TACTGC`	1	--	ds500¹		0	--	--	--	--
rs187926552^1,2		--	113127237(+)	`AGCCTC/TGACCT`	1	--	ds500¹		0	--	--	--	--
rs193197323^1,2		--	113127280(+)	`CCCCAA/GGTAGC`	1	--	ds500¹		0	--	--	--	--
rs2148874^1,2	C,H	--	113127466(+)	`GCATCG/ACACCC`	1	--	ds500¹		16		NS EA NA WA CSA	761
rs149954799^1,2	C	--	113127471(+)	`ACACCC/TGGCTT`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SVEP1 (113127528 - 113342160 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for SVEP1 (see all 17): About this table

Variant ID	Type	Subtype	PubMed ID
esv2738926	CNV	Deletion	23290073
esv2738924	CNV	Deletion	23290073
dgv1321e201	CNV	Deletion	23290073
esv268756	CNV	Insertion	20981092
nsv516479	CNV	Loss	19592680
nsv416225	CNV	Loss	16902084
nsv521593	CNV	Loss	19592680
esv27004	CNV	Loss	19812545
nsv893716	CNV	Loss	21882294
nsv466484	CNV	Loss	19166990

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611691 OMIM disorders: --

9 diseases for SVEP1:
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breast cancer hirschsprung's disease spondylitis gout

ankylosing spondylitis bipolar disorder asthma endotheliitis

malaria

SVEP1 for disorders About GeneDecksing

Genetic Association Database (GAD): SVEP1
Human Genome Epidemiology (HuGE) Navigator: SVEP1 (2 documents)

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(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)
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PubMed articles for SVEP1 gene, integrated from 10 sources (see all 22):
(articles sorted by number of sources associating them with SVEP1)

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Polydom: a secreted protein with pentraxin, complement control protein, epidermal growth factor and von Willebrand factor A domains. (PubMed id 11062057)^{1, 2, 9} Gilges D.... Vigon I. (Biochem. J. 2000)
Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)^{1, 4} Imboden M....Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
Fine mapping of the 9q31 Hirschsprung's disease locus. (PubMed id 20361209)^{1, 4} Tang C.S....Garcia-BarcelA^ M.M. (Hum. Genet. 2010)
Joint influence of small-effect genetic variants on human longevity. (PubMed id 20834067)^{1, 4} Yashin A.I....Ukraintseva S.V. (Aging (Albany NY) 2010)
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PubMed id 18711365)^{1, 4} Ferreira M.A....Craddock N. (Nat. Genet. 2008)
Molecular and cellular characterization of SEL-OB/SVEP1 in osteogenic cells in vivo and in vitro. (PubMed id 16206243)^{1, 2} Shur I.... Benayahu D. (J. Cell. Physiol. 2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes. (PubMed id 23386860)¹ Pasquale L.R....Hu F.B. (Front Genet 2013)
Evaluation of various endothelial biomarkers in ankylosing spondylitis. (PubMed id 21556780)¹ Taylan A....Akkoc N. (Clin. Rheumatol. 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 79987	HGNC: 15985	Ensembl:ENSG00000165124	euGenes: HUgn79987	ECgene: SVEP1
H-InvDB: SVEP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SVEP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SVEP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SVEP1 gene:
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Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain...

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