ACP5 (acid phosphatase 5, tartrate resistant) - Rat Genome Database

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Gene: ACP5 (acid phosphatase 5, tartrate resistant) Homo sapiens
Analyze
Symbol: ACP5
Name: acid phosphatase 5, tartrate resistant
RGD ID: 10073
HGNC Page HGNC
Description: Enables ferric iron binding activity and ferrous iron binding activity. Predicted to be involved in bone resorption and ossification. Predicted to act upstream of or within several processes, including negative regulation of cellular metabolic process; negative regulation of cytokine production; and response to bacterium. Predicted to be located in cytosol. Predicted to be integral component of membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acid phosphatase 5; HPAP; human purple acid phosphatase; MGC117378; SPENCDI; tartrate-resistant acid ATPase; tartrate-resistant acid phosphatase 5a; tartrate-resistant acid phosphatase 5b; tartrate-resistant acid phosphatase type 5; TRACP5a; TRACP5b; TRAP; TrATPase
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 Ensembl1911,574,660 - 11,579,008 (-)EnsemblGRCh38hg38GRCh38
GRCh381911,574,660 - 11,578,983 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371911,685,475 - 11,689,790 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361911,546,477 - 11,549,496 (-)NCBINCBI36hg18NCBI36
Build 341911,546,476 - 11,549,496NCBI
Celera1911,580,213 - 11,584,539 (-)NCBI
Cytogenetic Map19p13.2NCBI
HuRef1911,259,840 - 11,264,071 (-)NCBIHuRef
CHM1_11911,685,335 - 11,689,664 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-ginsenoside Rg3  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,4-dichlorobenzene  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-aminopurine  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-amino-5-chloro-N-[1-[3-(4-fluorophenoxy)propyl]-3-methoxy-4-piperidinyl]-2-methoxybenzamide  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (ISO)
aluminium oxide  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
aristolochic acid  (EXP)
azadirachtin A  (ISO)
beclomethasone  (EXP)
belinostat  (EXP)
benzamide  (ISO)
benzo[a]pyrene  (EXP,ISO)
Bergenin  (ISO)
bisphenol A  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
chromium atom  (ISO)
cisapride  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
crocin-1  (ISO)
cyclosporin A  (EXP,ISO)
desferrioxamine B  (ISO)
dexamethasone  (EXP,ISO)
diethylstilbestrol  (ISO)
diosgenin  (ISO)
dithionite(2-)  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ellagic acid  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fluoxetine  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
guanethidine  (ISO)
Heptachlor epoxide  (ISO)
indometacin  (ISO)
iron dichloride  (ISO)
ivermectin  (EXP)
KN-93  (ISO)
linsidomine  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
mangiferin  (ISO)
Maxacalcitol  (EXP)
methylglyoxal  (ISO)
modafinil  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
naringin  (ISO)
niclosamide  (EXP,ISO)
nitric acid  (ISO)
nitrofen  (ISO)
NMN zwitterion  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
phenethyl caffeate  (ISO)
poly(ethylene)  (EXP)
poly(methyl methacrylate) macromolecule  (ISO)
potassium dichromate  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP,ISO)
sclareol  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
stevioside  (ISO)
succimer  (ISO)
sulforaphane  (ISO)
tacrolimus hydrate  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
theophylline  (ISO)
thioacetamide  (ISO)
thymol  (ISO)
thymol sulfate(1-)  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
tungsten  (ISO)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (EXP)
vitamin D  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal lateral ventricle morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Anti-dsDNA antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrel-shaped chest  (IAGP)
Bowing of the legs  (IAGP)
Brain imaging abnormality  (IAGP)
Cellular immunodeficiency  (IAGP)
Cerebral calcification  (IAGP)
Childhood onset  (IAGP)
Chorea  (IAGP)
Chronic kidney disease  (IAGP)
Combined immunodeficiency  (IAGP)
Congenital onset  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Delayed eruption of teeth  (IAGP)
Dental malocclusion  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Enchondroma  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Granuloma  (IAGP)
Headache  (IAGP)
Hematuria  (IAGP)
Hepatitis  (IAGP)
Hypermelanotic macule  (IAGP)
Hypertension  (IAGP)
Hypopigmented skin patches on arms  (IAGP)
Hypoplastic ilia  (IAGP)
Hypothyroidism  (IAGP)
Immune dysregulation  (IAGP)
Increased intervertebral space  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Irregular vertebral endplates  (IAGP)
Joint swelling  (IAGP)
Juvenile onset  (IAGP)
Juvenile rheumatoid arthritis  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Limb undergrowth  (IAGP)
Low-set ears  (IAGP)
Lower limb pain  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lymphadenopathy  (IAGP)
Lymphopenia  (IAGP)
Metaphyseal dysplasia  (IAGP)
Metaphyseal irregularity  (IAGP)
Metaphyseal sclerosis  (IAGP)
Metaphyseal widening  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Myalgia  (IAGP)
Narrow nose  (IAGP)
Neutropenia  (IAGP)
Pancytopenia  (IAGP)
Pectus carinatum  (IAGP)
Platyspondyly  (IAGP)
Pneumonia  (IAGP)
Progressive spastic quadriplegia  (IAGP)
Proteinuria  (IAGP)
Purpura  (IAGP)
Raynaud phenomenon  (IAGP)
Recurrent infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent sinusitis  (IAGP)
Restrictive ventilatory defect  (IAGP)
Sclerosis of skull base  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short distal phalanx of finger  (IAGP)
Short iliac bones  (IAGP)
Short stature  (IAGP)
Skin rash  (IAGP)
Spastic diplegia  (IAGP)
Spasticity  (IAGP)
Spondylometaphyseal dysplasia  (IAGP)
Systemic lupus erythematosus  (IAGP)
T lymphocytopenia  (IAGP)
Tubulointerstitial fibrosis  (IAGP)
Turricephaly  (IAGP)
Vasculitis  (IAGP)
Ventriculomegaly  (IAGP)
Vitiligo  (IAGP)
References

Additional References at PubMed
PMID:1872798   PMID:2334436   PMID:2338077   PMID:2473026   PMID:2610679   PMID:2775236   PMID:2808373   PMID:2909539   PMID:8125298   PMID:8188227   PMID:8195113   PMID:8200916  
PMID:8359686   PMID:8449511   PMID:8889548   PMID:9521821   PMID:10389595   PMID:10862785   PMID:11983200   PMID:12009023   PMID:12073156   PMID:12450668   PMID:12477932   PMID:12589973  
PMID:12820342   PMID:12845688   PMID:12901871   PMID:15342556   PMID:15489334   PMID:15542543   PMID:15701839   PMID:15878315   PMID:15950921   PMID:15993892   PMID:16169070   PMID:16200454  
PMID:16280328   PMID:16620768   PMID:16869970   PMID:17088078   PMID:17207965   PMID:17357281   PMID:17997709   PMID:18053985   PMID:18221403   PMID:18285546   PMID:18320034   PMID:18410226  
PMID:18421493   PMID:18703035   PMID:18979172   PMID:19010793   PMID:19026169   PMID:19765782   PMID:20416078   PMID:20932965   PMID:20967488   PMID:21217752   PMID:21217755   PMID:21300043  
PMID:21386798   PMID:21873635   PMID:21900206   PMID:22335021   PMID:22357739   PMID:22490295   PMID:22517558   PMID:22844067   PMID:23376485   PMID:23383108   PMID:23604121   PMID:23737138  
PMID:23990468   PMID:25450682   PMID:25778334   PMID:26186194   PMID:26427154   PMID:26789720   PMID:26854080   PMID:26951490   PMID:27069189   PMID:27089726   PMID:27390188   PMID:27432908  
PMID:27577203   PMID:27718324   PMID:27840329   PMID:28087412   PMID:28398694   PMID:28428481   PMID:28514442   PMID:28532220   PMID:28915803   PMID:30973000   PMID:30995879   PMID:31531762  
PMID:31650885   PMID:31654098   PMID:32521854   PMID:32788631   PMID:33143325  


Genomics

Comparative Map Data
ACP5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1911,574,660 - 11,579,008 (-)EnsemblGRCh38hg38GRCh38
GRCh381911,574,660 - 11,578,983 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371911,685,475 - 11,689,790 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361911,546,477 - 11,549,496 (-)NCBINCBI36hg18NCBI36
Build 341911,546,476 - 11,549,496NCBI
Celera1911,580,213 - 11,584,539 (-)NCBI
Cytogenetic Map19p13.2NCBI
HuRef1911,259,840 - 11,264,071 (-)NCBIHuRef
CHM1_11911,685,335 - 11,689,664 (-)NCBICHM1_1
Acp5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39922,038,023 - 22,047,042 (-)NCBIGRCm39mm39
GRCm39 Ensembl922,038,023 - 22,047,007 (-)Ensembl
GRCm38922,126,727 - 22,135,746 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl922,126,727 - 22,135,711 (-)EnsemblGRCm38mm10GRCm38
MGSCv37921,931,171 - 21,940,190 (-)NCBIGRCm37mm9NCBIm37
MGSCv36921,877,148 - 21,881,056 (-)NCBImm8
Celera919,395,697 - 19,404,716 (-)NCBICelera
Cytogenetic Map9A3NCBI
cM Map98.38NCBI
Acp5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2820,663,984 - 20,670,604 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl820,663,985 - 20,667,929 (-)Ensembl
Rnor_6.0823,142,733 - 23,149,067 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl823,142,734 - 23,148,396 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0823,197,095 - 23,202,903 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera822,052,728 - 22,058,674 (-)NCBICelera
Cytogenetic Map8q13NCBI
Acp5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554952,418,364 - 2,421,538 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554952,418,113 - 2,421,181 (+)NCBIChiLan1.0ChiLan1.0
ACP5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11911,832,575 - 11,836,881 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1911,832,575 - 11,835,203 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01911,120,451 - 11,125,167 (-)NCBIMhudiblu_PPA_v0panPan3
ACP5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12049,812,444 - 49,816,262 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2049,814,032 - 49,816,260 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2049,684,989 - 49,687,385 (+)NCBI
ROS_Cfam_1.02050,330,836 - 50,334,545 (+)NCBI
UMICH_Zoey_3.12049,542,471 - 49,544,878 (+)NCBI
UNSW_CanFamBas_1.02049,968,636 - 49,971,025 (+)NCBI
UU_Cfam_GSD_1.02050,211,593 - 50,213,981 (+)NCBI
Acp5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,712,098 - 208,756,454 (+)NCBI
SpeTri2.0NW_0049366591,598,252 - 1,642,615 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACP5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl270,206,159 - 70,208,328 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1270,206,159 - 70,209,855 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2270,615,520 - 70,616,019 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap2q12-q21NCBI
ACP5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1610,488,572 - 10,493,508 (-)NCBI
ChlSab1.1 Ensembl610,488,460 - 10,491,519 (-)Ensembl
Vero_WHO_p1.0NW_0236660749,350,068 - 9,354,653 (+)NCBI
Acp5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248283,305,913 - 3,309,983 (+)NCBI

Position Markers
RH93921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,685,780 - 11,685,958UniSTSGRCh37
Build 361911,546,780 - 11,546,958RGDNCBI36
Celera1911,580,518 - 11,580,696RGD
Cytogenetic Map19p13.2UniSTS
HuRef1911,260,145 - 11,260,323UniSTS
GeneMap99-GB4 RH Map1973.59UniSTS
G06617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,685,482 - 11,685,820UniSTSGRCh37
Build 361911,546,482 - 11,546,820RGDNCBI36
Celera1911,580,220 - 11,580,558RGD
Cytogenetic Map19p13.2UniSTS
HuRef1911,259,847 - 11,260,185UniSTS
G10515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,685,521 - 11,685,704UniSTSGRCh37
Build 361911,546,521 - 11,546,704RGDNCBI36
Celera1911,580,259 - 11,580,442RGD
Cytogenetic Map19p13.2UniSTS
HuRef1911,259,886 - 11,260,069UniSTS
ACP5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,687,076 - 11,687,401UniSTSGRCh37
Build 361911,548,076 - 11,548,401RGDNCBI36
Celera1911,581,814 - 11,582,139RGD
HuRef1911,261,346 - 11,261,671UniSTS
ACP5__4244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,685,440 - 11,686,069UniSTSGRCh37
Build 361911,546,440 - 11,547,069RGDNCBI36
Celera1911,580,178 - 11,580,807RGD
HuRef1911,259,805 - 11,260,434UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3350
Count of miRNA genes:907
Interacting mature miRNAs:1138
Transcripts:ENST00000218758, ENST00000412435, ENST00000433365, ENST00000588079, ENST00000588524, ENST00000588625, ENST00000589792, ENST00000590420, ENST00000590832, ENST00000591319, ENST00000592659, ENST00000592828
Prediction methods:Microtar, Miranda, Rnahybrid
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 970 667 352 348 1435 211 1955 78 41 276 809 796 141 788 744 3
Low 1398 1913 1355 264 425 238 1751 1356 2052 120 582 704 30 1 414 1414 1 1
Below cutoff 49 404 14 9 62 13 646 752 1613 17 44 89 2 2 629 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001111034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001111035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001111036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI755033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM708166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP334409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP367008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX365007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB775570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X67123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218758   ⟹   ENSP00000218758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,574,660 - 11,578,985 (-)Ensembl
RefSeq Acc Id: ENST00000412435   ⟹   ENSP00000392374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,574,691 - 11,578,986 (-)Ensembl
RefSeq Acc Id: ENST00000588079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,576,842 - 11,577,700 (-)Ensembl
RefSeq Acc Id: ENST00000588524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,576,600 - 11,578,976 (-)Ensembl
RefSeq Acc Id: ENST00000588625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,576,379 - 11,576,943 (-)Ensembl
RefSeq Acc Id: ENST00000589792   ⟹   ENSP00000468685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,577,094 - 11,578,136 (-)Ensembl
RefSeq Acc Id: ENST00000590420   ⟹   ENSP00000468509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,575,000 - 11,577,632 (-)Ensembl
RefSeq Acc Id: ENST00000590832   ⟹   ENSP00000465127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,576,732 - 11,577,527 (-)Ensembl
RefSeq Acc Id: ENST00000591319   ⟹   ENSP00000464831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,577,160 - 11,579,008 (-)Ensembl
RefSeq Acc Id: ENST00000592659   ⟹   ENSP00000465498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,577,301 - 11,578,954 (-)Ensembl
RefSeq Acc Id: ENST00000592828   ⟹   ENSP00000468767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,577,161 - 11,578,979 (-)Ensembl
RefSeq Acc Id: ENST00000648477   ⟹   ENSP00000496973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,574,660 - 11,577,645 (-)Ensembl
RefSeq Acc Id: ENST00000649386   ⟹   ENSP00000497140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1911,577,105 - 11,578,923 (-)Ensembl
RefSeq Acc Id: NM_001111034   ⟹   NP_001104504
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,574,660 - 11,578,740 (-)NCBI
GRCh371911,685,475 - 11,689,801 (-)ENTREZGENE
HuRef1911,259,840 - 11,264,071 (-)ENTREZGENE
CHM1_11911,685,335 - 11,689,458 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001111035   ⟹   NP_001104505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,574,660 - 11,578,975 (-)NCBI
GRCh371911,685,475 - 11,689,801 (-)ENTREZGENE
HuRef1911,259,840 - 11,264,071 (-)ENTREZGENE
CHM1_11911,685,335 - 11,689,686 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001111036   ⟹   NP_001104506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,574,660 - 11,578,975 (-)NCBI
GRCh371911,685,475 - 11,689,801 (-)ENTREZGENE
HuRef1911,259,840 - 11,264,071 (-)ENTREZGENE
CHM1_11911,685,335 - 11,689,686 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322023   ⟹   NP_001308952
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,574,660 - 11,578,257 (-)NCBI
CHM1_11911,685,335 - 11,688,872 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001611   ⟹   NP_001602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,574,660 - 11,577,645 (-)NCBI
GRCh371911,685,475 - 11,689,801 (-)ENTREZGENE
Build 361911,546,477 - 11,549,496 (-)NCBI Archive
HuRef1911,259,840 - 11,264,071 (-)ENTREZGENE
CHM1_11911,685,335 - 11,688,419 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005259938   ⟹   XP_005259995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,574,660 - 11,578,979 (-)NCBI
GRCh371911,685,475 - 11,689,801 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528069   ⟹   XP_011526371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,574,660 - 11,578,983 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001104506   ⟸   NM_001111036
- Peptide Label: precursor
- UniProtKB: P13686 (UniProtKB/Swiss-Prot),   A0A024R7F8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001104505   ⟸   NM_001111035
- Peptide Label: precursor
- UniProtKB: P13686 (UniProtKB/Swiss-Prot),   A0A024R7F8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001104504   ⟸   NM_001111034
- Peptide Label: precursor
- UniProtKB: P13686 (UniProtKB/Swiss-Prot),   A0A024R7F8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001602   ⟸   NM_001611
- Peptide Label: precursor
- UniProtKB: P13686 (UniProtKB/Swiss-Prot),   A0A024R7F8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005259995   ⟸   XM_005259938
- Peptide Label: isoform X1
- UniProtKB: P13686 (UniProtKB/Swiss-Prot),   A0A024R7F8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526371   ⟸   XM_011528069
- Peptide Label: isoform X1
- UniProtKB: P13686 (UniProtKB/Swiss-Prot),   A0A024R7F8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308952   ⟸   NM_001322023
- Peptide Label: precursor
- UniProtKB: P13686 (UniProtKB/Swiss-Prot),   A0A024R7F8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000496973   ⟸   ENST00000648477
RefSeq Acc Id: ENSP00000497140   ⟸   ENST00000649386
RefSeq Acc Id: ENSP00000392374   ⟸   ENST00000412435
RefSeq Acc Id: ENSP00000218758   ⟸   ENST00000218758
RefSeq Acc Id: ENSP00000468685   ⟸   ENST00000589792
RefSeq Acc Id: ENSP00000468509   ⟸   ENST00000590420
RefSeq Acc Id: ENSP00000465127   ⟸   ENST00000590832
RefSeq Acc Id: ENSP00000464831   ⟸   ENST00000591319
RefSeq Acc Id: ENSP00000468767   ⟸   ENST00000592828
RefSeq Acc Id: ENSP00000465498   ⟸   ENST00000592659
Protein Domains
Metallophos

Promoters
RGD ID:6795100
Promoter ID:HG_KWN:28934
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_001111034,   NM_001111035,   NM_001111036,   UC010DYE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361911,550,399 - 11,550,899 (-)MPROMDB
RGD ID:7238623
Promoter ID:EPDNEW_H25058
Type:initiation region
Name:ACP5_1
Description:acid phosphatase 5, tartrate resistant
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25059  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,577,645 - 11,577,705EPDNEW
RGD ID:7238625
Promoter ID:EPDNEW_H25059
Type:initiation region
Name:ACP5_2
Description:acid phosphatase 5, tartrate resistant
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25058  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,578,974 - 11,579,034EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000022705] Chr19:11576839 [GRCh38]
Chr19:11687654 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000022706] Chr19:11576311 [GRCh38]
Chr19:11687126 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000022707] Chr19:11575197 [GRCh38]
Chr19:11686012 [GRCh37]
Chr19:19p13.2
pathogenic|uncertain significance
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) deletion Spondyloenchondrodysplasia with immune dysregulation [RCV000022710] Chr19:11575155..11575157 [GRCh38]
Chr19:11685970..11685972 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000022711] Chr19:11576376 [GRCh38]
Chr19:11687191 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000022708] Chr19:11576335 [GRCh38]
Chr19:11687150 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) single nucleotide variant Inborn genetic diseases [RCV000624296]|Spondyloenchondrodysplasia with immune dysregulation [RCV000022709] Chr19:11576780 [GRCh38]
Chr19:11687595 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000543872] Chr19:11577073 [GRCh38]
Chr19:11687888 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.276C>T (p.Asp92=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000560827] Chr19:11576829 [GRCh38]
Chr19:11687644 [GRCh37]
Chr19:19p13.2
benign
NM_001611.5(ACP5):c.855T>C (p.Thr285=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000548882] Chr19:11575133 [GRCh38]
Chr19:11685948 [GRCh37]
Chr19:19p13.2
benign
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000544535]|not provided [RCV001572880] Chr19:11576317 [GRCh38]
Chr19:11687132 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001611.5(ACP5):c.693C>T (p.Tyr231=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000557211] Chr19:11576285 [GRCh38]
Chr19:11687100 [GRCh37]
Chr19:19p13.2
benign
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000537794]|not provided [RCV000514245]|not specified [RCV000179812] Chr19:11575174 [GRCh38]
Chr19:11685989 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000210945] Chr19:11577187 [GRCh38]
Chr19:11688002 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.816dup (p.Lys273fs) duplication Spondyloenchondrodysplasia with immune dysregulation [RCV000210950] Chr19:11575171..11575172 [GRCh38]
Chr19:11685986..11685987 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) deletion Spondyloenchondrodysplasia with immune dysregulation [RCV000210955] Chr19:11575198..11575216 [GRCh38]
Chr19:11686013..11686031 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.543C>A (p.Ala181=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001078878]|not provided [RCV000179369] Chr19:11576435 [GRCh38]
Chr19:11687250 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001611.5(ACP5):c.598G>A (p.Val200Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001522650]|not provided [RCV001539664]|not specified [RCV000245115] Chr19:11576380 [GRCh38]
Chr19:11687195 [GRCh37]
Chr19:19p13.2
benign
NM_001611.5(ACP5):c.225C>T (p.Phe75=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001522652]|not specified [RCV000248093] Chr19:11577093 [GRCh38]
Chr19:11687908 [GRCh37]
Chr19:19p13.2
benign
NM_001611.5(ACP5):c.442G>A (p.Val148Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001522651]|not specified [RCV000253285] Chr19:11576536 [GRCh38]
Chr19:11687351 [GRCh37]
Chr19:19p13.2
benign
NM_001611.5(ACP5):c.127C>T (p.His43Tyr) single nucleotide variant not provided [RCV000380639] Chr19:11577191 [GRCh38]
Chr19:11688006 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.299G>A (p.Arg100His) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000960520]|not specified [RCV000728906] Chr19:11576806 [GRCh38]
Chr19:11687621 [GRCh37]
Chr19:19p13.2
likely benign
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12
uncertain significance
NM_001611.5(ACP5):c.386G>A (p.Arg129His) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000532055] Chr19:11576719 [GRCh38]
Chr19:11687534 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000531109] Chr19:11577181 [GRCh38]
Chr19:11687996 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000640594] Chr19:11575250 [GRCh38]
Chr19:11686065 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.861C>T (p.Asp287=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000640595] Chr19:11575127 [GRCh38]
Chr19:11685942 [GRCh37]
Chr19:19p13.2
benign
NM_001611.5(ACP5):c.601C>T (p.Leu201=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000640596]|not provided [RCV000996764] Chr19:11576377 [GRCh38]
Chr19:11687192 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter) single nucleotide variant Inborn genetic diseases [RCV000622352] Chr19:11576452 [GRCh38]
Chr19:11687267 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000686302] Chr19:11577080 [GRCh38]
Chr19:11687895 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.14C>T (p.Thr5Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000701843] Chr19:11577304 [GRCh38]
Chr19:11688119 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000703324] Chr19:11577151 [GRCh38]
Chr19:11687966 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000694951] Chr19:11576335 [GRCh38]
Chr19:11687150 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic
NM_001611.5(ACP5):c.290G>A (p.Arg97His) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000695790] Chr19:11576815 [GRCh38]
Chr19:11687630 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000706171] Chr19:11576509 [GRCh38]
Chr19:11687324 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001611.5(ACP5):c.545G>A (p.Arg182His) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001068408] Chr19:11576433 [GRCh38]
Chr19:11687248 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:11667844-11780171)x1 copy number loss not provided [RCV001007033] Chr19:11667844..11780171 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.731T>C (p.Leu244Pro) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001045331] Chr19:11576247 [GRCh38]
Chr19:11687062 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.955C>T (p.Leu319=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000884132] Chr19:11575033 [GRCh38]
Chr19:11685848 [GRCh37]
Chr19:19p13.2
benign
NM_001611.5(ACP5):c.621C>T (p.Pro207=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001443954]|not provided [RCV000949417] Chr19:11576357 [GRCh38]
Chr19:11687172 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000966327] Chr19:11575128 [GRCh38]
Chr19:11685943 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001052020] Chr19:11575024 [GRCh38]
Chr19:11685839 [GRCh37]
Chr19:19p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001611.5(ACP5):c.15G>T (p.Thr5=) single nucleotide variant not provided [RCV000879182] Chr19:11577303 [GRCh38]
Chr19:11688118 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.132G>A (p.Thr44=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000961610] Chr19:11577186 [GRCh38]
Chr19:11688001 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.30G>T (p.Leu10=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000960532] Chr19:11577288 [GRCh38]
Chr19:11688103 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000819431] Chr19:11575017 [GRCh38]
Chr19:11685832 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000803148] Chr19:11577169 [GRCh38]
Chr19:11687984 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000936196] Chr19:11576341 [GRCh38]
Chr19:11687156 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.316G>A (p.Val106Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000806559] Chr19:11576789 [GRCh38]
Chr19:11687604 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000791659] Chr19:11576391 [GRCh38]
Chr19:11687206 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000818588] Chr19:11577239 [GRCh38]
Chr19:11688054 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.921C>G (p.Ile307Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000803657] Chr19:11575067 [GRCh38]
Chr19:11685882 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.846C>G (p.His282Gln) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000813226] Chr19:11575142 [GRCh38]
Chr19:11685957 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.971G>T (p.Arg324Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000813227] Chr19:11575017 [GRCh38]
Chr19:11685832 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000817493] Chr19:11577302 [GRCh38]
Chr19:11688117 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000802214] Chr19:11576580 [GRCh38]
Chr19:11687395 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000793506] Chr19:11577155 [GRCh38]
Chr19:11687970 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter) single nucleotide variant not provided [RCV001091770] Chr19:11576736 [GRCh38]
Chr19:11687551 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000792233] Chr19:11575183 [GRCh38]
Chr19:11685998 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000792697] Chr19:11575159 [GRCh38]
Chr19:11685974 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.766G>C (p.Val256Leu) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000795826] Chr19:11575222 [GRCh38]
Chr19:11686037 [GRCh37]
Chr19:19p13.2
uncertain significance
Single allele deletion not provided [RCV000844961] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2
not provided
NM_001611.5(ACP5):c.495T>C (p.Asp165=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000915303] Chr19:11576483 [GRCh38]
Chr19:11687298 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.625_626del (p.Trp209fs) microsatellite Spondyloenchondrodysplasia with immune dysregulation [RCV000990151] Chr19:11576352..11576353 [GRCh38]
Chr19:11687167..11687168 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.17C>T (p.Ala6Val) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001228683] Chr19:11577301 [GRCh38]
Chr19:11688116 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001223563] Chr19:11575164 [GRCh38]
Chr19:11685979 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001241772] Chr19:11576568 [GRCh38]
Chr19:11687383 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.44_65del (p.Leu15fs) deletion Spondyloenchondrodysplasia with immune dysregulation [RCV001226079] Chr19:11577253..11577274 [GRCh38]
Chr19:11688068..11688089 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.516T>A (p.Pro172=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000919730] Chr19:11576462 [GRCh38]
Chr19:11687277 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.522G>A (p.Arg174=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000907431] Chr19:11576456 [GRCh38]
Chr19:11687271 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.828C>T (p.Asn276=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV000930104] Chr19:11575160 [GRCh38]
Chr19:11685975 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001223472] Chr19:11576332 [GRCh38]
Chr19:11687147 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.815G>A (p.Arg272His) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001243646] Chr19:11575173 [GRCh38]
Chr19:11685988 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.694G>A (p.Gly232Arg) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001221749] Chr19:11576284 [GRCh38]
Chr19:11687099 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3 copy number gain not provided [RCV001007032] Chr19:11445773..12160664 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.61G>C (p.Gly21Arg) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001043846] Chr19:11577257 [GRCh38]
Chr19:11688072 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.10:g.(?_11574990)_(11577337_?)dup duplication Spondyloenchondrodysplasia with immune dysregulation [RCV001031628] Chr19:11685805..11688152 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.652C>T (p.His218Tyr) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001038443] Chr19:11576326 [GRCh38]
Chr19:11687141 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.578C>A (p.Ala193Glu) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001211971] Chr19:11576400 [GRCh38]
Chr19:11687215 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.757G>A (p.Val253Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001061098] Chr19:11575231 [GRCh38]
Chr19:11686046 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001233695] Chr19:11575150 [GRCh38]
Chr19:11685965 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001233098] Chr19:11576305 [GRCh38]
Chr19:11687120 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:10642984-12810067) copy number loss not provided [RCV001249213] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2
not provided
NM_001611.5(ACP5):c.91G>A (p.Val31Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001228789] Chr19:11577227 [GRCh38]
Chr19:11688042 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.249C>G (p.Asp83Glu) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001212203] Chr19:11577069 [GRCh38]
Chr19:11687884 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001214543] Chr19:11576346 [GRCh38]
Chr19:11687161 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001054493] Chr19:11575038 [GRCh38]
Chr19:11685853 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.715G>A (p.Gly239Ser) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001054702] Chr19:11576263 [GRCh38]
Chr19:11687078 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.544C>T (p.Arg182Cys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001050624] Chr19:11576434 [GRCh38]
Chr19:11687249 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.261+6T>C single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001230676] Chr19:11577051 [GRCh38]
Chr19:11687866 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.277G>A (p.Val93Ile) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001057168] Chr19:11576828 [GRCh38]
Chr19:11687643 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001211158] Chr19:11576449 [GRCh38]
Chr19:11687264 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.736-2A>G single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001332836] Chr19:11575254 [GRCh38]
Chr19:11686069 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.413G>A (p.Arg138His) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001338989] Chr19:11576565 [GRCh38]
Chr19:11687380 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.262-14T>C single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001334779] Chr19:11576857 [GRCh38]
Chr19:11687672 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.47C>A (p.Pro16His) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001324493] Chr19:11577271 [GRCh38]
Chr19:11688086 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.527G>A (p.Arg176Gln) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001358844] Chr19:11576451 [GRCh38]
Chr19:11687266 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.914C>T (p.Thr305Ile) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001370822] Chr19:11575074 [GRCh38]
Chr19:11685889 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.872G>A (p.Gly291Asp) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001359991] Chr19:11575116 [GRCh38]
Chr19:11685931 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.720C>T (p.His240=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001415280] Chr19:11576258 [GRCh38]
Chr19:11687073 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.682C>G (p.Leu228Val) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001334780] Chr19:11576296 [GRCh38]
Chr19:11687111 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.136C>T (p.Arg46Trp) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001362074] Chr19:11577182 [GRCh38]
Chr19:11687997 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.804G>T (p.Lys268Asn) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001345677] Chr19:11575184 [GRCh38]
Chr19:11685999 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.919A>T (p.Ile307Phe) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001318436] Chr19:11575069 [GRCh38]
Chr19:11685884 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.517G>A (p.Glu173Lys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001301396] Chr19:11576461 [GRCh38]
Chr19:11687276 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.542C>A (p.Ala181Asp) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001317696] Chr19:11576436 [GRCh38]
Chr19:11687251 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.393C>G (p.Asn131Lys) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001324106] Chr19:11576585 [GRCh38]
Chr19:11687400 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.851G>A (p.Gly284Glu) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001344053] Chr19:11575137 [GRCh38]
Chr19:11685952 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.619C>A (p.Pro207Thr) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001350078] Chr19:11576359 [GRCh38]
Chr19:11687174 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.622G>A (p.Val208Met) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001297374] Chr19:11576356 [GRCh38]
Chr19:11687171 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.477A>C (p.Thr159=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001413177] Chr19:11576501 [GRCh38]
Chr19:11687316 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.611G>A (p.Gly204Asp) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001368785] Chr19:11576367 [GRCh38]
Chr19:11687182 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.68C>T (p.Thr23Ile) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001326040] Chr19:11577250 [GRCh38]
Chr19:11688065 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.839G>A (p.Arg280His) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001325726] Chr19:11575149 [GRCh38]
Chr19:11685964 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.421T>G (p.Phe141Val) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001359654] Chr19:11576557 [GRCh38]
Chr19:11687372 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001611.5(ACP5):c.735+18G>A single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001501858] Chr19:11576225 [GRCh38]
Chr19:11687040 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.678A>C (p.Pro226=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001435741] Chr19:11576300 [GRCh38]
Chr19:11687115 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.351C>T (p.Val117=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001482576] Chr19:11576754 [GRCh38]
Chr19:11687569 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.714C>T (p.Cys238=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001478840] Chr19:11576264 [GRCh38]
Chr19:11687079 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.315C>T (p.Tyr105=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001503418] Chr19:11576790 [GRCh38]
Chr19:11687605 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.327A>G (p.Gly109=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001393325] Chr19:11576778 [GRCh38]
Chr19:11687593 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.582G>A (p.Ala194=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001424800] Chr19:11576396 [GRCh38]
Chr19:11687211 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.733C>T (p.Gln245Ter) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001386586] Chr19:11576245 [GRCh38]
Chr19:11687060 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.257del (p.Phe86fs) deletion Spondyloenchondrodysplasia with immune dysregulation [RCV001388705] Chr19:11577061 [GRCh38]
Chr19:11687876 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.597C>T (p.Tyr199=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001408412] Chr19:11576381 [GRCh38]
Chr19:11687196 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.480A>G (p.Leu160=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001495960] Chr19:11576498 [GRCh38]
Chr19:11687313 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.262-15A>G single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001452523] Chr19:11576858 [GRCh38]
Chr19:11687673 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.381C>T (p.Ser127=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001477418] Chr19:11576724 [GRCh38]
Chr19:11687539 [GRCh37]
Chr19:19p13.2
likely benign
NM_001611.5(ACP5):c.390-11C>G single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001516852] Chr19:11576599 [GRCh38]
Chr19:11687414 [GRCh37]
Chr19:19p13.2
benign
NC_000019.9:g.(?_11685805)_(11688152_?)del deletion Spondyloenchondrodysplasia with immune dysregulation [RCV001385269] Chr19:11685805..11688152 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001611.5(ACP5):c.279A>G (p.Val93=) single nucleotide variant Spondyloenchondrodysplasia with immune dysregulation [RCV001416385] Chr19:11576826 [GRCh38]
Chr19:11687641 [GRCh37]
Chr19:19p13.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:124 AgrOrtholog
COSMIC ACP5 COSMIC
Ensembl Genes ENSG00000102575 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000218758 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392374 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464831 UniProtKB/TrEMBL
  ENSP00000465127 UniProtKB/TrEMBL
  ENSP00000468509 UniProtKB/TrEMBL
  ENSP00000468685 UniProtKB/TrEMBL
  ENSP00000468767 UniProtKB/TrEMBL
  ENSP00000496973 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000497140 UniProtKB/TrEMBL
Ensembl Transcript ENST00000218758 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000412435 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000589792 UniProtKB/TrEMBL
  ENST00000590420 UniProtKB/TrEMBL
  ENST00000590832 UniProtKB/TrEMBL
  ENST00000591319 UniProtKB/TrEMBL
  ENST00000592828 UniProtKB/TrEMBL
  ENST00000648477 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000649386 UniProtKB/TrEMBL
Gene3D-CATH 3.60.21.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102575 GTEx
HGNC ID HGNC:124 ENTREZGENE
Human Proteome Map ACP5 Human Proteome Map
InterPro Acid_PPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcineurin-like_PHP_ApaH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallo-depent_PP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54 ENTREZGENE
OMIM 171640 OMIM
  607944 OMIM
Pfam Metallophos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24448 PharmGKB
PIRSF Acid_Ptase_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R7F8 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IS75_HUMAN UniProtKB/TrEMBL
  K7EIP0_HUMAN UniProtKB/TrEMBL
  K7EJD9_HUMAN UniProtKB/TrEMBL
  K7ES19_HUMAN UniProtKB/TrEMBL
  K7ESF2_HUMAN UniProtKB/TrEMBL
  P13686 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K3V2 UniProtKB/Swiss-Prot
  Q2TAB1 UniProtKB/Swiss-Prot
  Q6IAS6 UniProtKB/Swiss-Prot
  Q9UCJ5 UniProtKB/Swiss-Prot
  Q9UCJ6 UniProtKB/Swiss-Prot
  Q9UCJ7 UniProtKB/Swiss-Prot