ASPN (asporin) - Rat Genome Database

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Gene: ASPN (asporin) Homo sapiens
Analyze
Symbol: ASPN
Name: asporin
RGD ID: 1345823
HGNC Page HGNC:14872
Description: Enables calcium ion binding activity. Involved in bone mineralization and negative regulation of transforming growth factor beta receptor signaling pathway. Located in extracellular matrix. Implicated in ankylosing spondylitis; degenerative disc disease; and osteoarthritis. Biomarker of degenerative disc disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: asporin (LRR class 1); asporin proteoglycan; FLJ20129; OS3; periodontal ligament associated protein 1; periodontal ligament-associated protein 1; PLAP-1; PLAP1; SLRR1C; small leucine-rich protein 1C
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: suggests misassembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38992,456,205 - 92,482,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl992,456,205 - 92,482,506 (-)EnsemblGRCh38hg38GRCh38
GRCh37995,218,487 - 95,244,788 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36994,258,308 - 94,284,609 (-)NCBINCBI36Build 36hg18NCBI36
Build 34992,298,045 - 92,324,343NCBI
Celera965,660,507 - 65,686,862 (-)NCBICelera
Cytogenetic Map9q22.31NCBI
HuRef964,895,929 - 64,922,284 (-)NCBIHuRef
CHM1_1995,364,907 - 95,391,264 (-)NCBICHM1_1
T2T-CHM13v2.09104,622,707 - 104,649,005 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-diaminotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
arsenite(3-)  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
captan  (ISO)
carnosic acid  (ISO)
CGP 52608  (EXP)
crocidolite asbestos  (ISO)
D-glucose  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
dichloroacetic acid  (ISO)
diethyl phthalate  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
fructose  (ISO)
furan  (ISO)
glucose  (ISO)
herbicide  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
lead diacetate  (ISO)
lidocaine  (ISO)
maneb  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
milrinone  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodimethylamine  (ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
progesterone  (EXP)
rotenone  (ISO)
sodium fluoride  (ISO)
sulforaphane  (ISO)
testosterone enanthate  (EXP)
triadimefon  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Asporin, a susceptibility gene in osteoarthritis, is expressed at higher levels in the more degenerate human intervertebral disc. Gruber HE, etal., Arthritis Res Ther. 2009;11(2):R47. doi: 10.1186/ar2660. Epub 2009 Mar 27.
3. An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Kizawa H, etal., Nat Genet. 2005 Feb;37(2):138-44. Epub 2005 Jan 9.
4. Association of an asporin repeat polymorphism with ankylosing spondylitis in Han Chinese population: a case-control study. Liu D, etal., Clin Invest Med. 2010 Feb 1;33(1):E63-8.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Lack of association of a variable number of aspartic acid residues in the asporin gene with osteoarthritis susceptibility: case-control studies in Spanish Caucasians. Rodriguez-Lopez J, etal., Arthritis Res Ther. 2006;8(3):R55. Epub 2006 Mar 10.
8. Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip: a case-control study in Han Chinese. Shi D, etal., Arthritis Res Ther. 2011 Feb 17;13(1):R27. doi: 10.1186/ar3252.
9. Association of the asporin D14 allele with lumbar-disc degeneration in Asians. Song YQ, etal., Am J Hum Genet. 2008 Mar;82(3):744-7. doi: 10.1016/j.ajhg.2007.12.017. Epub 2008 Feb 21.
Additional References at PubMed
PMID:11152692   PMID:11152695   PMID:11587855   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15342556   PMID:16255042   PMID:16632759   PMID:16707531   PMID:17024313   PMID:17195216  
PMID:17517696   PMID:17603749   PMID:17804408   PMID:17827158   PMID:18178444   PMID:18336287   PMID:18434216   PMID:18452398   PMID:19589127   PMID:19997821   PMID:20551380   PMID:20939878  
PMID:21413025   PMID:21528154   PMID:21542882   PMID:21755970   PMID:21774982   PMID:21873635   PMID:21898406   PMID:22247499   PMID:22367347   PMID:22384228   PMID:22514560   PMID:23185509  
PMID:23220557   PMID:23324291   PMID:23357225   PMID:23537453   PMID:23706210   PMID:23733110   PMID:23819832   PMID:23838702   PMID:23942062   PMID:24003854   PMID:24078942   PMID:24306268  
PMID:24324885   PMID:24441039   PMID:24453179   PMID:24708694   PMID:24716474   PMID:24905804   PMID:25030405   PMID:25031006   PMID:25037231   PMID:25371314   PMID:25673058   PMID:26016288  
PMID:26446945   PMID:26620055   PMID:27068509   PMID:27409832   PMID:27559042   PMID:27705916   PMID:28152543   PMID:28400334   PMID:28646230   PMID:28675934   PMID:28889984   PMID:29233086  
PMID:29561445   PMID:30407347   PMID:31123087   PMID:31136974   PMID:31266804   PMID:31665048   PMID:32836054   PMID:33393151   PMID:33533513   PMID:33605799   PMID:33861510   PMID:33961781  
PMID:34349018   PMID:34379869   PMID:34705621   PMID:36614283   PMID:37006132  


Genomics

Comparative Map Data
ASPN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38992,456,205 - 92,482,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl992,456,205 - 92,482,506 (-)EnsemblGRCh38hg38GRCh38
GRCh37995,218,487 - 95,244,788 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36994,258,308 - 94,284,609 (-)NCBINCBI36Build 36hg18NCBI36
Build 34992,298,045 - 92,324,343NCBI
Celera965,660,507 - 65,686,862 (-)NCBICelera
Cytogenetic Map9q22.31NCBI
HuRef964,895,929 - 64,922,284 (-)NCBIHuRef
CHM1_1995,364,907 - 95,391,264 (-)NCBICHM1_1
T2T-CHM13v2.09104,622,707 - 104,649,005 (-)NCBIT2T-CHM13v2.0
Aspn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391349,697,919 - 49,721,041 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1349,697,919 - 49,721,041 (+)EnsemblGRCm39 Ensembl
GRCm381349,544,443 - 49,567,565 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1349,544,443 - 49,567,565 (+)EnsemblGRCm38mm10GRCm38
MGSCv371349,639,812 - 49,662,934 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361349,556,478 - 49,579,502 (+)NCBIMGSCv36mm8
Celera1350,634,916 - 50,658,050 (+)NCBICelera
Cytogenetic Map13A5NCBI
cM Map1325.31NCBI
Aspn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81715,286,338 - 15,310,567 (-)NCBIGRCr8
mRatBN7.21715,079,910 - 15,104,369 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1715,080,639 - 15,104,041 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1714,967,831 - 14,991,213 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01716,572,887 - 16,596,269 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01714,894,622 - 14,918,004 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01714,655,958 - 14,681,355 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1715,495,790 - 15,519,282 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1714,656,009 - 14,679,409 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01716,708,328 - 16,731,849 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01717,554,966 - 17,577,763 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41721,035,597 - 21,058,999 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1714,811,448 - 14,834,831 (-)NCBICelera
Cytogenetic Map17p14NCBI
Aspn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555155,321,943 - 5,345,894 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555155,322,074 - 5,345,715 (+)NCBIChiLan1.0ChiLan1.0
ASPN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21146,940,895 - 46,972,365 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1946,947,044 - 46,974,751 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0963,579,188 - 63,605,811 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1991,651,621 - 91,677,969 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl991,651,629 - 91,677,969 (-)Ensemblpanpan1.1panPan2
ASPN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1198,881,610 - 98,905,641 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl198,881,690 - 98,904,945 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha199,275,463 - 99,299,478 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0199,498,440 - 99,522,461 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl199,498,487 - 99,545,678 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1199,111,520 - 99,135,540 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0198,846,776 - 98,870,787 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0199,603,543 - 99,627,551 (+)NCBIUU_Cfam_GSD_1.0
Aspn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049447,863,503 - 7,888,007 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364872,079,973 - 2,104,499 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364872,080,014 - 2,104,534 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASPN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl342,165,561 - 42,192,813 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1342,165,553 - 42,192,902 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2343,350,293 - 43,377,638 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ASPN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112102,972,652 - 102,999,248 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl12102,972,541 - 102,999,368 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603891,244,869 - 91,271,647 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aspn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248683,897,514 - 3,920,383 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248683,897,633 - 3,920,307 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASPN
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017680.6(ASPN):c.114TGA[15] (p.Asp50_Glu51insAspAsp) microsatellite CENPP-related disorder [RCV003964789]|Lumbar disk degeneration, susceptibility to [RCV000002636]|Osteoarthritis susceptibility 3 [RCV000002635]|not specified [RCV001731274] Chr9:92474742..92474743 [GRCh38]
Chr9:95237024..95237025 [GRCh37]
Chr9:9q22.31		 risk factor|benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1 copy number loss See cases [RCV000052916] Chr9:91596533..97018746 [GRCh38]
Chr9:94358815..99781028 [GRCh37]
Chr9:93398636..98820849 [NCBI36]
Chr9:9q22.31-22.33		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q22.31(chr9:95051642-95264865)x3 copy number gain Breast ductal adenocarcinoma [RCV000207122] Chr9:95051642..95264865 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q22.31(chr9:95130400-95454546)x1 copy number loss See cases [RCV000448721] Chr9:95130400..95454546 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_017680.6(ASPN):c.114TGA[17] (p.Asp50_Glu51insAspAspAspAsp) microsatellite not provided [RCV000484873] Chr9:92474742..92474743 [GRCh38]
Chr9:95237024..95237025 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q22.31(chr9:94907633-96493970)x1 copy number loss not provided [RCV000683156] Chr9:94907633..96493970 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q22.31(chr9:94974188-95228663)x3 copy number gain not provided [RCV000748524] Chr9:94974188..95228663 [GRCh37]
Chr9:9q22.31		 benign
GRCh37/hg19 9q22.31(chr9:95044229-95360764)x3 copy number gain not provided [RCV000748525] Chr9:95044229..95360764 [GRCh37]
Chr9:9q22.31		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 pathogenic
GRCh37/hg19 9q22.31(chr9:95079793-95503060)x1 copy number loss not provided [RCV001006246] Chr9:95079793..95503060 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.31(chr9:95146115-95280874)x1 copy number loss not provided [RCV001006247] Chr9:95146115..95280874 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.31(chr9:94667669-95345847)x3 copy number gain not provided [RCV000847811] Chr9:94667669..95345847 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.31(chr9:95058076-95292831)x1 copy number loss not provided [RCV000847503] Chr9:95058076..95292831 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.31(chr9:95123353-95453320)x1 copy number loss not provided [RCV000849491] Chr9:95123353..95453320 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q22.31(chr9:95076710-95263214)x1 copy number loss not provided [RCV002472702] Chr9:95076710..95263214 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_017680.6(ASPN):c.114TGA[16] (p.Asp50_Glu51insAspAspAsp) microsatellite not provided [RCV001635592] Chr9:92474742..92474743 [GRCh38]
Chr9:95237024..95237025 [GRCh37]
Chr9:9q22.31		 benign
GRCh37/hg19 9q22.31(chr9:94671200-95325631)x3 copy number gain See cases [RCV001007416] Chr9:94671200..95325631 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.31(chr9:95175351-95375366)x1 copy number loss not provided [RCV001259036] Chr9:95175351..95375366 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_017680.6(ASPN):c.1090C>T (p.Arg364Cys) single nucleotide variant not provided [RCV001355827] Chr9:92457338 [GRCh38]
Chr9:95219620 [GRCh37]
Chr9:9q22.31		 uncertain significance
NC_000009.11:g.(?_95007241)_(95237179_?)del deletion not provided [RCV001387104] Chr9:95007241..95237179 [GRCh37]
Chr9:9q22.31		 pathogenic
NM_017680.6(ASPN):c.114TGA[19] (p.Asp50_Glu51insAspAspAspAspAspAsp) microsatellite not provided [RCV001652085] Chr9:92474742..92474743 [GRCh38]
Chr9:95237024..95237025 [GRCh37]
Chr9:9q22.31		 benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_017680.6(ASPN):c.112_152= (p.Asp38_Glu51=) microsatellite not provided [RCV001762822] Chr9:92474743..92474745 [GRCh38]
Chr9:95237025..95237027 [GRCh37]
Chr9:9q22.31		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q22.31(chr9:95174066-95242960) copy number loss not specified [RCV002052821] Chr9:95174066..95242960 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9q22.31(chr9:95052447-95382122)x3 copy number gain not provided [RCV001827977] Chr9:95052447..95382122 [GRCh37]
Chr9:9q22.31		 uncertain significance
NC_000009.11:g.(?_94794747)_(95527026_?)del deletion Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [RCV001900344]|Hereditary sensory and autonomic neuropathy type 1 [RCV001875146] Chr9:94794747..95527026 [GRCh37]
Chr9:9q22.31		 uncertain significance
NC_000009.11:g.(?_94485944)_(95527026_?)del deletion not provided [RCV003113522] Chr9:94485944..95527026 [GRCh37]
Chr9:9q22.31		 pathogenic
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 copy number loss Gorlin syndrome [RCV002279743] Chr9:93864974..106661581 [GRCh37]
Chr9:9q22.2-31.1		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9q22.31(chr9:95079794-95503060)x1 copy number loss not provided [RCV002475609] Chr9:95079794..95503060 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.31(chr9:94666958-95339157)x3 copy number gain not provided [RCV002475857] Chr9:94666958..95339157 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_017680.6(ASPN):c.62C>A (p.Pro21His) single nucleotide variant not specified [RCV004100543] Chr9:92474836 [GRCh38]
Chr9:95237118 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_017680.6(ASPN):c.627T>A (p.Asn209Lys) single nucleotide variant not specified [RCV004124362] Chr9:92465001 [GRCh38]
Chr9:95227283 [GRCh37]
Chr9:9q22.31		 uncertain significance
Single allele deletion not provided [RCV003448676] Chr9:92679543..109378847 [GRCh37]
Chr9:9q22.2-31.2		 pathogenic
GRCh37/hg19 9q22.31(chr9:94666957-95345707)x3 copy number gain not specified [RCV003986810] Chr9:94666957..95345707 [GRCh37]
Chr9:9q22.31		 uncertain significance
NM_017680.6(ASPN):c.132T>C (p.Asp44=) single nucleotide variant ASPN-related disorder [RCV003927100] Chr9:92474766 [GRCh38]
Chr9:95237048 [GRCh37]
Chr9:9q22.31		 likely benign
NM_017680.6(ASPN):c.378A>T (p.Ser126=) single nucleotide variant ASPN-related disorder [RCV003959474] Chr9:92470675 [GRCh38]
Chr9:95232957 [GRCh37]
Chr9:9q22.31		 likely benign
NM_017680.6(ASPN):c.575G>A (p.Gly192Glu) single nucleotide variant ASPN-related disorder [RCV003929772] Chr9:92466381 [GRCh38]
Chr9:95228663 [GRCh37]
Chr9:9q22.31		 benign
NM_001012267.3(CENPP):c.564+94884TCA[18] microsatellite CENPP-related disorder [RCV003911525] Chr9:92474742..92474743 [GRCh38]
Chr9:95237024..95237025 [GRCh37]
Chr9:9q22.31		 benign
NM_017680.6(ASPN):c.727T>C (p.Leu243=) single nucleotide variant ASPN-related disorder [RCV003971445] Chr9:92460550 [GRCh38]
Chr9:95222832 [GRCh37]
Chr9:9q22.31		 likely benign
NM_017680.6(ASPN):c.89T>C (p.Met30Thr) single nucleotide variant ASPN-related disorder [RCV003956891] Chr9:92474809 [GRCh38]
Chr9:95237091 [GRCh37]
Chr9:9q22.31		 likely benign
GRCh37/hg19 9q22.31(chr9:95013129-95367710)x1 copy number loss not provided [RCV004819823] Chr9:95013129..95367710 [GRCh37]
Chr9:9q22.31		 uncertain significance
GRCh37/hg19 9q22.2-22.31(chr9:92891639-95599825)x3 copy number gain not provided [RCV004819549] Chr9:92891639..95599825 [GRCh37]
Chr9:9q22.2-22.31		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:754
Count of miRNA genes:346
Interacting mature miRNAs:373
Transcripts:ENST00000375543, ENST00000375544, ENST00000395538, ENST00000450139
Prediction methods: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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597511278GWAS1607352_Hurate measurement QTL GWAS1607352 (human)3e-09urate measurementblood uric acid level (CMO:0000501)99245696692456967Human
597407694GWAS1503768_Hbody mass index QTL GWAS1503768 (human)7e-10body mass indexbody mass index (BMI) (CMO:0000105)99246169892461699Human
597418012GWAS1514086_Hurate measurement QTL GWAS1514086 (human)0.000008urate measurementblood uric acid level (CMO:0000501)99245696692456967Human
597301696GWAS1397770_Hasporin measurement QTL GWAS1397770 (human)2e-20asporin measurement99246638192466382Human

Markers in Region
SHGC-35056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37995,220,976 - 95,221,100UniSTSGRCh37
Build 36994,260,797 - 94,260,921RGDNCBI36
Celera965,662,994 - 65,663,118RGD
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9q22UniSTS
HuRef964,898,416 - 64,898,540UniSTS
Stanford-G3 RH Map93081.0UniSTS
GeneMap99-GB4 RH Map9305.42UniSTS
Whitehead-RH Map9348.7UniSTS
NCBI RH Map9772.5UniSTS
GeneMap99-G3 RH Map92979.0UniSTS
RH119473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37995,242,109 - 95,242,379UniSTSGRCh37
Build 36994,281,930 - 94,282,200RGDNCBI36
Celera965,684,127 - 65,684,397RGD
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9q22UniSTS
HuRef964,919,548 - 64,919,818UniSTS
TNG Radiation Hybrid Map933568.0UniSTS
SHGC-106025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37995,227,212 - 95,227,490UniSTSGRCh37
Build 36994,267,033 - 94,267,311RGDNCBI36
Celera965,669,230 - 65,669,508RGD
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9q22UniSTS
HuRef964,904,648 - 64,904,926UniSTS
TNG Radiation Hybrid Map933565.0UniSTS
RH36006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37995,218,562 - 95,218,777UniSTSGRCh37
Build 36994,258,383 - 94,258,598RGDNCBI36
Celera965,660,582 - 65,660,797RGD
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9q22UniSTS
HuRef964,896,004 - 64,896,219UniSTS
GeneMap99-GB4 RH Map9304.6UniSTS
ASPN_9828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37995,218,434 - 95,219,345UniSTSGRCh37
Build 36994,258,255 - 94,259,166RGDNCBI36
Celera965,660,454 - 65,661,365RGD
HuRef964,895,876 - 64,896,787UniSTS
STS-H75800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37995,221,107 - 95,221,248UniSTSGRCh37
Build 36994,260,928 - 94,261,069RGDNCBI36
Celera965,663,125 - 65,663,266RGD
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9q22UniSTS
HuRef964,898,547 - 64,898,688UniSTS
GeneMap99-GB4 RH Map9304.09UniSTS
D9S2071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37995,223,628 - 95,223,775UniSTSGRCh37
Build 36994,263,449 - 94,263,596RGDNCBI36
Celera965,665,646 - 65,665,793RGD
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9q22UniSTS
HuRef964,901,064 - 64,901,211UniSTS
GeneMap99-G3 RH Map92979.0UniSTS
D9S2074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37995,218,531 - 95,218,739UniSTSGRCh37
Build 36994,258,352 - 94,258,560RGDNCBI36
Celera965,660,551 - 65,660,759RGD
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9q22UniSTS
HuRef964,895,973 - 64,896,181UniSTS
Stanford-G3 RH Map93096.0UniSTS
NCBI RH Map9774.6UniSTS
GeneMap99-G3 RH Map92994.0UniSTS


Expression

RNA-SEQ Expression

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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2348 2788 2238 4800 1696 2154 4 607 1387 445 2149 6612 5899 21 3673 1 803 1658 1444 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF316824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI741321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY029191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP292032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD110559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF547971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NTIA01000042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000375543   ⟹   ENSP00000364693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl992,456,209 - 92,482,353 (-)Ensembl
Ensembl Acc Id: ENST00000375544   ⟹   ENSP00000364694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl992,456,205 - 92,482,506 (-)Ensembl
Ensembl Acc Id: ENST00000650794   ⟹   ENSP00000499088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl992,457,422 - 92,482,379 (-)Ensembl
Ensembl Acc Id: ENST00000651738   ⟹   ENSP00000498419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl992,466,502 - 92,482,477 (-)Ensembl
RefSeq Acc Id: NM_001193335   ⟹   NP_001180264
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,456,205 - 92,482,506 (-)NCBI
GRCh37995,218,487 - 95,244,844 (-)ENTREZGENE
HuRef964,895,929 - 64,922,284 (-)ENTREZGENE
CHM1_1995,364,907 - 95,391,264 (-)NCBI
T2T-CHM13v2.09104,622,707 - 104,649,005 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017680   ⟹   NP_060150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,456,205 - 92,482,506 (-)NCBI
GRCh37995,218,487 - 95,244,844 (-)ENTREZGENE
Build 36994,258,308 - 94,284,609 (-)NCBI Archive
HuRef964,895,929 - 64,922,284 (-)ENTREZGENE
CHM1_1995,364,907 - 95,391,264 (-)NCBI
T2T-CHM13v2.09104,622,707 - 104,649,005 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001180264   ⟸   NM_001193335
- Peptide Label: isoform 2 precursor
- UniProtKB: B4E2Z7 (UniProtKB/TrEMBL),   Q5TBF2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_060150   ⟸   NM_017680
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q9NXP3 (UniProtKB/Swiss-Prot),   Q96LD0 (UniProtKB/Swiss-Prot),   Q96K79 (UniProtKB/Swiss-Prot),   Q5TBF3 (UniProtKB/Swiss-Prot),   Q9BXN1 (UniProtKB/Swiss-Prot),   A0AAG2UW46 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000499088   ⟸   ENST00000650794
Ensembl Acc Id: ENSP00000364694   ⟸   ENST00000375544
Ensembl Acc Id: ENSP00000364693   ⟸   ENST00000375543
Ensembl Acc Id: ENSP00000498419   ⟸   ENST00000651738
Protein Domains
LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXN1-F1-model_v2 AlphaFold Q9BXN1 1-380 view protein structure

Promoters
RGD ID:7215481
Promoter ID:EPDNEW_H13487
Type:initiation region
Name:ASPN_1
Description:asporin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38992,482,506 - 92,482,566EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14872 AgrOrtholog
COSMIC ASPN COSMIC
Ensembl Genes ENSG00000106819 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000292224 UniProtKB/TrEMBL
Ensembl Transcript ENST00000375543 ENTREZGENE
  ENST00000375543.2 UniProtKB/TrEMBL
  ENST00000375544 ENTREZGENE
  ENST00000375544.7 UniProtKB/Swiss-Prot
  ENST00000650794.1 UniProtKB/TrEMBL
  ENST00000651738.1 UniProtKB/TrEMBL
  ENST00000710274.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106819 GTEx
  ENSG00000292224 GTEx
HGNC ID HGNC:14872 ENTREZGENE
Human Proteome Map ASPN Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLRP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLRP_I_decor/aspor/byglycan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54829 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54829 ENTREZGENE
OMIM 608135 OMIM
PANTHER AGAP008170-PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45712:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25057 PharmGKB
PIRSF SLRP_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C084_HUMAN UniProtKB/TrEMBL
  A0A494C1J0_HUMAN UniProtKB/TrEMBL
  A0AAG2UW46 ENTREZGENE, UniProtKB/TrEMBL
  ASPN_HUMAN UniProtKB/Swiss-Prot
  B4E2Z7 ENTREZGENE, UniProtKB/TrEMBL
  L0R6D0_HUMAN UniProtKB/TrEMBL
  Q05CQ6_HUMAN UniProtKB/TrEMBL
  Q5TBF2 ENTREZGENE, UniProtKB/TrEMBL
  Q5TBF3 ENTREZGENE
  Q6P528_HUMAN UniProtKB/TrEMBL
  Q96K79 ENTREZGENE
  Q96LD0 ENTREZGENE
  Q9BXN1 ENTREZGENE
  Q9NXP3 ENTREZGENE
UniProt Secondary E7ENJ9 UniProtKB/TrEMBL
  Q5TBF3 UniProtKB/Swiss-Prot
  Q96K79 UniProtKB/Swiss-Prot
  Q96LD0 UniProtKB/Swiss-Prot
  Q9NXP3 UniProtKB/Swiss-Prot