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
Description: Exhibits calcium ion binding activity. Involved in bone mineralization and negative regulation of transforming growth factor beta receptor signaling pathway. Localizes to extracellular matrix. Implicated in ankylosing spondylitis; degenerative disc disease; and osteoarthritis. Biomarker of degenerative disc disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl992,456,205 - 92,482,506 (-)EnsemblGRCh38hg38GRCh38
GRCh38992,456,205 - 92,482,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37995,218,487 - 95,244,788 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37995,218,487 - 95,244,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36994,258,308 - 94,284,609 (-)NCBINCBI36hg18NCBI36
Build 34992,298,045 - 92,324,343NCBI
Celera965,660,507 - 65,686,862 (-)NCBI
Cytogenetic Map9q22.31NCBI
HuRef964,895,929 - 64,922,284 (-)NCBIHuRef
CHM1_1995,364,907 - 95,391,264 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

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  


Genomics

Comparative Map Data
ASPN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl992,456,205 - 92,482,506 (-)EnsemblGRCh38hg38GRCh38
GRCh38992,456,205 - 92,482,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37995,218,487 - 95,244,788 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37995,218,487 - 95,244,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36994,258,308 - 94,284,609 (-)NCBINCBI36hg18NCBI36
Build 34992,298,045 - 92,324,343NCBI
Celera965,660,507 - 65,686,862 (-)NCBI
Cytogenetic Map9q22.31NCBI
HuRef964,895,929 - 64,922,284 (-)NCBIHuRef
CHM1_1995,364,907 - 95,391,264 (-)NCBICHM1_1
Aspn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391349,697,919 - 49,721,041 (+)NCBIGRCm39mm39
GRCm381349,544,443 - 49,567,565 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1349,544,443 - 49,567,565 (+)EnsemblGRCm38mm10GRCm38
MGSCv371349,639,812 - 49,662,934 (+)NCBIGRCm37mm9NCBIm37
MGSCv361349,556,478 - 49,579,502 (+)NCBImm8
Celera1350,634,916 - 50,658,050 (+)NCBICelera
Cytogenetic Map13A5NCBI
Aspn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21715,079,910 - 15,104,369 (-)NCBI
Rnor_6.0 Ensembl1714,656,009 - 14,679,409 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01714,655,958 - 14,681,355 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
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 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.1991,651,621 - 91,677,969 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl991,651,629 - 91,677,969 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0963,579,188 - 63,605,811 (-)NCBIMhudiblu_PPA_v0panPan3
ASPN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl198,881,690 - 98,904,945 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1198,881,610 - 98,905,641 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Aspn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364872,080,014 - 2,104,534 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASPN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl342,165,553 - 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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112102,972,652 - 102,999,248 (-)NCBI
ChlSab1.1 Ensembl12102,972,541 - 102,999,368 (-)Ensembl
Aspn
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248683,897,633 - 3,920,307 (+)NCBI

Position Markers
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

miRNA Target Status

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1
Medium 1436 1809 791 249 114 233 2130 935 478 111 468 968 17 953 1372 1
Low 870 432 862 349 383 204 1965 1193 1849 244 802 423 147 1 249 1403 2 1
Below cutoff 42 565 43 9 890 8 141 31 1346 22 106 51 6 2 13 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
  HF547971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000375543   ⟹   ENSP00000364693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,456,209 - 92,482,353 (-)Ensembl
RefSeq Acc Id: ENST00000375544   ⟹   ENSP00000364694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,456,205 - 92,482,506 (-)Ensembl
RefSeq Acc Id: ENST00000650794   ⟹   ENSP00000499088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl992,457,422 - 92,482,379 (-)Ensembl
RefSeq Acc Id: ENST00000651738   ⟹   ENSP00000498419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001180264   ⟸   NM_001193335
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9BXN1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060150   ⟸   NM_017680
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q9BXN1 (UniProtKB/Swiss-Prot),   Q6P528 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000499088   ⟸   ENST00000650794
RefSeq Acc Id: ENSP00000364694   ⟸   ENST00000375544
RefSeq Acc Id: ENSP00000364693   ⟸   ENST00000375543
RefSeq Acc Id: ENSP00000498419   ⟸   ENST00000651738
Protein Domains
LRRNT

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

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001012267.3(CENPP):c.564+94884TCA[15] microsatellite Lumbar disc degeneration, susceptibility to [RCV000002636]|Osteoarthritis susceptibility 3 [RCV000002635] Chr9:92474742..92474743 [GRCh38]
Chr9:95237024..95237025 [GRCh37]
Chr9:9q22.31
risk factor
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 Ductal breast carcinoma [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 See cases [RCV000447207] 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_001012267.3(CENPP):c.564+94884TCA[17] 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(chr9:94671200-95325631)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

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
Ensembl Protein ENSP00000364693 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000364694 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498419 UniProtKB/TrEMBL
  ENSP00000499088 UniProtKB/TrEMBL
Ensembl Transcript ENST00000375543 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000375544 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000650794 UniProtKB/TrEMBL
  ENST00000651738 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106819 GTEx
HGNC ID HGNC:14872 ENTREZGENE
Human Proteome Map ASPN Human Proteome Map
InterPro Asporin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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_I_decor/aspor/byglycan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54829 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54829 ENTREZGENE
OMIM 603932 OMIM
  607850 OMIM
  608135 OMIM
PANTHER 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
UniProt A0A494C084_HUMAN UniProtKB/TrEMBL
  A0A494C1J0_HUMAN UniProtKB/TrEMBL
  ASPN_HUMAN UniProtKB/Swiss-Prot
  L0R6D0_HUMAN UniProtKB/TrEMBL
  Q05CQ6_HUMAN UniProtKB/TrEMBL
  Q5TBF2_HUMAN UniProtKB/TrEMBL
  Q6P528 ENTREZGENE, UniProtKB/TrEMBL
  Q9BXN1 ENTREZGENE
UniProt Secondary E7ENJ9 UniProtKB/TrEMBL
  Q5TBF3 UniProtKB/Swiss-Prot
  Q96K79 UniProtKB/Swiss-Prot
  Q96LD0 UniProtKB/Swiss-Prot
  Q9NXP3 UniProtKB/Swiss-Prot