VCP (valosin containing protein) - Rat Genome Database

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Gene: VCP (valosin containing protein) Homo sapiens
Analyze
Symbol: VCP
Name: valosin containing protein
RGD ID: 731621
HGNC Page HGNC
Description: Enables several functions, including BAT3 complex binding activity; deubiquitinase activator activity; and enzyme binding activity. Involved in several processes, including DNA repair; ERAD pathway; and positive regulation of cellular metabolic process. Located in several cellular components, including cytoplasmic stress granule; lipid droplet; and site of double-strand break. Part of Derlin-1 retrotranslocation complex and proteasome complex. Implicated in several diseases, including Charcot-Marie-Tooth disease type 2Y; Paget's disease of bone; amyotrophic lateral sclerosis type 14; inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1; and inclusion body myositis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 15S Mg(2+)-ATPase p97 subunit; ALS14; CDC48; CMT2Y; epididymis luminal protein 220; epididymis secretory protein Li 70; FTDALS6; HEL-220; HEL-S-70; IBMPFD; IBMPFD1; MGC131997; MGC148092; MGC8560; p97; TER ATPase; TERA; transitional endoplasmic reticulum ATPase; valosin-containing protein; yeast Cdc48p homolog
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 Ensembl935,053,928 - 35,072,668 (-)EnsemblGRCh38hg38GRCh38
GRCh38935,056,064 - 35,072,625 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,056,061 - 35,072,622 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,046,560 - 35,062,564 (-)NCBINCBI36hg18NCBI36
Build 34935,046,560 - 35,062,564NCBI
Celera934,988,041 - 35,004,706 (-)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,011,651 - 35,028,327 (-)NCBIHuRef
CHM1_1935,055,907 - 35,072,605 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcidiol  (ISO)
ceruletide  (ISO)
chenodeoxycholic acid  (EXP)
chloropicrin  (EXP)
chloroquine  (EXP,ISO)
chromium trinitrate  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
deoxycholic acid  (EXP)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
diethylstilbestrol  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hyaluronic acid  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (ISO)
isoflavones  (ISO)
L-serine  (EXP)
lactacystin  (EXP)
lead(II) chloride  (EXP)
leflunomide  (EXP)
lovastatin  (ISO)
lycopene  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
naphthalene  (ISO)
nefazodone  (ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP,ISO)
prostaglandin A1  (ISO)
quartz  (EXP)
rotenone  (EXP,ISO)
silicon dioxide  (EXP)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
taurine  (EXP)
temozolomide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of cysteine-type endopeptidase activity involved in apoptotic process  (ISO,ISS)
aggresome assembly  (IEA,ISO)
ATP metabolic process  (IEA)
autophagosome maturation  (IBA,IMP)
autophagy  (IEA,IMP)
cellular response to arsenite ion  (IMP)
cellular response to DNA damage stimulus  (IDA)
cellular response to heat  (IMP)
DNA repair  (NAS)
double-strand break repair  (IDA)
endoplasmic reticulum stress-induced pre-emptive quality control  (IMP)
endoplasmic reticulum to Golgi vesicle-mediated transport  (IEA,ISO)
endoplasmic reticulum unfolded protein response  (TAS)
endosome to lysosome transport via multivesicular body sorting pathway  (IMP)
ER-associated misfolded protein catabolic process  (IBA,IMP)
ERAD pathway  (IDA,IMP)
establishment of protein localization  (TAS)
flavin adenine dinucleotide catabolic process  (IMP)
interstrand cross-link repair  (ISS)
macroautophagy  (IMP)
mitotic spindle disassembly  (IBA)
NADH metabolic process  (IMP)
negative regulation of smoothened signaling pathway  (IMP)
positive regulation of ATP biosynthetic process  (IMP)
positive regulation of canonical Wnt signaling pathway  (IDA)
positive regulation of Lys63-specific deubiquitinase activity  (IDA)
positive regulation of mitochondrial membrane potential  (IMP)
positive regulation of oxidative phosphorylation  (IMP)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IDA)
positive regulation of protein catabolic process  (IDA)
positive regulation of protein K63-linked deubiquitination  (IDA)
positive regulation of protein-containing complex assembly  (IDA)
positive regulation of ubiquitin-dependent protein catabolic process  (ISO)
positive regulation of ubiquitin-specific protease activity  (IEA)
proteasomal protein catabolic process  (IMP)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IMP,NAS)
protein ubiquitination  (IDA,NAS)
protein-DNA covalent cross-linking repair  (IDA)
regulation of aerobic respiration  (IMP)
regulation of apoptotic process  (TAS)
regulation of protein localization to chromatin  (IDA)
regulation of synapse organization  (IEA)
retrograde protein transport, ER to cytosol  (IBA,IDA,IMP)
stress granule disassembly  (IMP)
translesion synthesis  (IMP)
ubiquitin-dependent ERAD pathway  (IBA,IDA,IMP,TAS)
ubiquitin-dependent protein catabolic process  (ISO)
viral genome replication  (IMP)

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

Human Phenotype
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormal mitochondrial morphology  (IAGP)
Abnormal upper motor neuron morphology  (IAGP)
Abnormality of calvarial morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of long bone morphology  (IAGP)
Abnormality of pelvic girdle bone morphology  (IAGP)
Abnormality of the musculature of the lower limbs  (IAGP)
Abolished vibration sense  (IAGP)
Absent Achilles reflex  (IAGP)
Abulia  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Alexia  (IAGP)
Alzheimer disease  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Apraxia  (IAGP)
Areflexia  (IAGP)
Arthralgia  (IAGP)
Astrocytosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Back pain  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bone pain  (IAGP)
Bowel incontinence  (IAGP)
Brain atrophy  (IAGP)
Broad-based gait  (IAGP)
Bulbar palsy  (IAGP)
Calvarial hyperostosis  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Collectionism  (IAGP)
Congestive heart failure  (IAGP)
Cranial nerve compression  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Degeneration of the lateral corticospinal tracts  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty running  (IAGP)
Difficulty walking  (IAGP)
Disinhibition  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Distal upper limb muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dyscalculia  (IAGP)
Dysgraphia  (IAGP)
Dyslexia  (IAGP)
Dysphagia  (IAGP)
Dysphasia  (IAGP)
Dyspnea  (IAGP)
Dystonia  (IAGP)
Echolalia  (IAGP)
EEG with continuous slow activity  (IAGP)
Elevated alkaline phosphatase of bone origin  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: chronic denervation signs  (IAGP)
EMG: myopathic abnormalities  (IAGP)
EMG: neuropathic changes  (IAGP)
Emotional blunting  (IAGP)
Emotional lability  (IAGP)
Expressive aphasia  (IAGP)
Facial diplegia  (IAGP)
Facial palsy  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fatigue  (IAGP)
Fatty replacement of skeletal muscle  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Frontal cortical atrophy  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized muscle weakness  (IAGP)
Gliosis  (IAGP)
Global brain atrophy  (IAGP)
Grammar-specific speech disorder  (IAGP)
Hallucinations  (IAGP)
Hammertoe  (IAGP)
Hand muscle atrophy  (IAGP)
Hepatic steatosis  (IAGP)
Hip pain  (IAGP)
Hyperlordosis  (IAGP)
Hyperorality  (IAGP)
Hyperreflexia  (IAGP)
Hyporeflexia  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired pain sensation  (IAGP)
Impaired tactile sensation  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Inappropriate behavior  (IAGP)
Increased spinal bone density  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Intellectual disability  (IAGP)
Intrinsic hand muscle atrophy  (IAGP)
Irritability  (IAGP)
Lack of insight  (IAGP)
Language impairment  (IAGP)
Laryngospasm  (IAGP)
Limb fasciculations  (IAGP)
Limb muscle weakness  (IAGP)
Limited knee flexion  (IAGP)
Loss of speech  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lumbar hyperlordosis  (IAGP)
Memory impairment  (IAGP)
Middle age onset  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor axonal neuropathy  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Mutism  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Nausea and vomiting  (IAGP)
Necrotizing myopathy  (IAGP)
Neurodegeneration  (IAGP)
Neuronal loss in the cerebral cortex  (IAGP)
Osteolysis  (IAGP)
Pain  (IAGP)
Paralysis  (IAGP)
Paraparesis  (IAGP)
Paresthesia  (IAGP)
Parkinsonism  (IAGP)
Pathologic fracture  (IAGP)
Pelvic girdle amyotrophy  (IAGP)
Pelvic girdle muscle atrophy  (IAGP)
Pelvic girdle muscle weakness  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Perseveration  (IAGP)
Personality changes  (IAGP)
Pes cavus  (IAGP)
Poor fine motor coordination  (IAGP)
Poor speech  (IAGP)
Progressive  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive neurologic deterioration  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Quadriceps muscle weakness  (IAGP)
Recurrent fractures  (IAGP)
Reduced vital capacity  (IAGP)
Respiratory failure  (IAGP)
Restlessness  (IAGP)
Restrictive behavior  (IAGP)
Rimmed vacuoles  (IAGP)
Scapular winging  (IAGP)
Senile plaques  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensory axonal neuropathy  (IAGP)
Short stature  (IAGP)
Shoulder girdle muscle atrophy  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Spoken word recognition deficit  (IAGP)
Steppage gait  (IAGP)
Stereotypy  (IAGP)
Supranuclear gaze palsy  (IAGP)
Temporal cortical atrophy  (IAGP)
Tetraparesis  (IAGP)
Thickened nuchal skin fold  (IAGP)
Toe walking  (IAGP)
Tongue fasciculations  (IAGP)
Tremor  (IAGP)
Ubiquitin-positive cerebral inclusion bodies  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Variable expressivity  (IAGP)
Waddling gait  (IAGP)
Weakness of muscles of respiration  (IAGP)
Weakness of the intrinsic hand muscles  (IAGP)
Xerostomia  (IAGP)
References

Additional References at PubMed
PMID:1602151   PMID:7553851   PMID:8413590   PMID:8595912   PMID:8889548   PMID:9286697   PMID:9321476   PMID:9452483   PMID:9506515   PMID:10350210   PMID:10364224   PMID:10855792  
PMID:10930447   PMID:10931946   PMID:11087817   PMID:11252708   PMID:11483959   PMID:11689694   PMID:11913976   PMID:11927012   PMID:12351637   PMID:12473691   PMID:12477932   PMID:12504083  
PMID:12509440   PMID:12529442   PMID:12560433   PMID:12663780   PMID:12665801   PMID:12807884   PMID:12810701   PMID:12937274   PMID:12944474   PMID:14532270   PMID:14743216   PMID:14749733  
PMID:14760088   PMID:15037256   PMID:15161933   PMID:15189447   PMID:15215856   PMID:15331598   PMID:15362974   PMID:15371428   PMID:15452376   PMID:15456787   PMID:15588985   PMID:15592455  
PMID:15723043   PMID:15732117   PMID:15743842   PMID:15752563   PMID:15883021   PMID:15932873   PMID:15952740   PMID:16009940   PMID:16027165   PMID:16051665   PMID:16130169   PMID:16140914  
PMID:16159877   PMID:16168377   PMID:16186509   PMID:16186510   PMID:16196087   PMID:16212419   PMID:16234241   PMID:16236267   PMID:16247064   PMID:16275660   PMID:16289116   PMID:16306228  
PMID:16344560   PMID:16386250   PMID:16407162   PMID:16449189   PMID:16461343   PMID:16513638   PMID:16525503   PMID:16551632   PMID:16621797   PMID:16723740   PMID:16783167   PMID:16807242  
PMID:16822850   PMID:16901789   PMID:16914519   PMID:16954204   PMID:16966435   PMID:16968747   PMID:16987818   PMID:17110338   PMID:17141156   PMID:17200190   PMID:17220478   PMID:17272822  
PMID:17311810   PMID:17314412   PMID:17346713   PMID:17353931   PMID:17368566   PMID:17457594   PMID:17493577   PMID:17525332   PMID:17550899   PMID:17618707   PMID:17620599   PMID:17622780  
PMID:17626287   PMID:17681147   PMID:17683050   PMID:17763460   PMID:17872946   PMID:17889967   PMID:17907600   PMID:17935506   PMID:18022694   PMID:18029348   PMID:18044963   PMID:18048502  
PMID:18160415   PMID:18166610   PMID:18199748   PMID:18216283   PMID:18279508   PMID:18341608   PMID:18400946   PMID:18544453   PMID:18550891   PMID:18586029   PMID:18654987   PMID:18656546  
PMID:18675248   PMID:18706391   PMID:18711132   PMID:18775313   PMID:18811591   PMID:18835813   PMID:19056867   PMID:19164805   PMID:19174149   PMID:19175675   PMID:19193609   PMID:19208399  
PMID:19237541   PMID:19240031   PMID:19275885   PMID:19286132   PMID:19356220   PMID:19364651   PMID:19506019   PMID:19570996   PMID:19615732   PMID:19704082   PMID:19730691   PMID:19738201  
PMID:19815544   PMID:19815549   PMID:19818707   PMID:19822669   PMID:19826004   PMID:19828134   PMID:19828315   PMID:19843543   PMID:19887378   PMID:19913121   PMID:20008565   PMID:20020773  
PMID:20057067   PMID:20085233   PMID:20097236   PMID:20100830   PMID:20104022   PMID:20116073   PMID:20126661   PMID:20301623   PMID:20301649   PMID:20335036   PMID:20348541   PMID:20360068  
PMID:20395553   PMID:20410307   PMID:20414249   PMID:20427671   PMID:20435896   PMID:20442859   PMID:20458337   PMID:20508983   PMID:20512113   PMID:20628086   PMID:20702414   PMID:20876349  
PMID:20935584   PMID:20938780   PMID:21081666   PMID:21118995   PMID:21135095   PMID:21145000   PMID:21145461   PMID:21152665   PMID:21173115   PMID:21186355   PMID:21249466   PMID:21282470  
PMID:21319273   PMID:21320982   PMID:21343306   PMID:21387114   PMID:21501964   PMID:21556036   PMID:21630459   PMID:21636303   PMID:21645854   PMID:21684747   PMID:21733848   PMID:21741246  
PMID:21781992   PMID:21811234   PMID:21822278   PMID:21832065   PMID:21857022   PMID:21873635   PMID:21896481   PMID:21900206   PMID:21909096   PMID:21909394   PMID:21914798   PMID:21918864  
PMID:21920633   PMID:21949850   PMID:21959292   PMID:21981919   PMID:21983102   PMID:21984748   PMID:21988832   PMID:22040362   PMID:22078486   PMID:22090097   PMID:22102026   PMID:22105171  
PMID:22119785   PMID:22120668   PMID:22137929   PMID:22190034   PMID:22196955   PMID:22207755   PMID:22210628   PMID:22216170   PMID:22270372   PMID:22298039   PMID:22321369   PMID:22328510  
PMID:22337587   PMID:22349865   PMID:22350894   PMID:22355145   PMID:22360420   PMID:22379090   PMID:22466964   PMID:22536440   PMID:22572540   PMID:22579784   PMID:22586326   PMID:22590560  
PMID:22607976   PMID:22623428   PMID:22681889   PMID:22686199   PMID:22699758   PMID:22789697   PMID:22795130   PMID:22863883   PMID:22870330   PMID:22900631   PMID:22902628   PMID:22939629  
PMID:22948820   PMID:22970133   PMID:23000505   PMID:23042605   PMID:23042607   PMID:23097496   PMID:23102936   PMID:23108140   PMID:23140793   PMID:23152587   PMID:23184937   PMID:23190606  
PMID:23246001   PMID:23250913   PMID:23293021   PMID:23297223   PMID:23333620   PMID:23335559   PMID:23349634   PMID:23376485   PMID:23383273   PMID:23393163   PMID:23402259   PMID:23412975  
PMID:23414517   PMID:23438482   PMID:23443559   PMID:23457492   PMID:23498974   PMID:23498975   PMID:23500464   PMID:23503661   PMID:23533145   PMID:23533167   PMID:23618873   PMID:23652004  
PMID:23665563   PMID:23722536   PMID:23747190   PMID:23747512   PMID:23782134   PMID:23791177   PMID:23798571   PMID:23844095   PMID:23867461   PMID:23907667   PMID:23964080   PMID:24019527  
PMID:24025715   PMID:24055316   PMID:24085347   PMID:24089527   PMID:24100225   PMID:24104479   PMID:24129571   PMID:24147044   PMID:24152492   PMID:24160817   PMID:24163436   PMID:24196352  
PMID:24196964   PMID:24215292   PMID:24248593   PMID:24377547   PMID:24417208   PMID:24424410   PMID:24429874   PMID:24448410   PMID:24457600   PMID:24598262   PMID:24610782   PMID:24700463  
PMID:24711643   PMID:24722188   PMID:24726323   PMID:24726327   PMID:24807418   PMID:24811749   PMID:24820123   PMID:24841198   PMID:24855649   PMID:24885147   PMID:25008318   PMID:25034784  
PMID:25078495   PMID:25084388   PMID:25088257   PMID:25118285   PMID:25125609   PMID:25146396   PMID:25147182   PMID:25192599   PMID:25231079   PMID:25416956   PMID:25437307   PMID:25447673  
PMID:25457024   PMID:25463965   PMID:25492614   PMID:25526666   PMID:25566966   PMID:25593058   PMID:25618255   PMID:25660456   PMID:25694454   PMID:25756610   PMID:25775548   PMID:25796446  
PMID:25814554   PMID:25865307   PMID:25874486   PMID:25878907   PMID:25921289   PMID:25959826   PMID:25963833   PMID:25970786   PMID:26107514   PMID:26112410   PMID:26134898   PMID:26168958  
PMID:26186194   PMID:26217791   PMID:26311884   PMID:26320413   PMID:26337389   PMID:26344197   PMID:26389662   PMID:26424800   PMID:26463207   PMID:26463447   PMID:26471130   PMID:26475856  
PMID:26496610   PMID:26504085   PMID:26511028   PMID:26511642   PMID:26549226   PMID:26555175   PMID:26565908   PMID:26618866   PMID:26641092   PMID:26712278   PMID:26712280   PMID:26720340  
PMID:26725010   PMID:26777405   PMID:26797118   PMID:26816005   PMID:26822609   PMID:26826127   PMID:26831064   PMID:26842564   PMID:26849035   PMID:26945068   PMID:26949251   PMID:26972000  
PMID:26990986   PMID:27129302   PMID:27226613   PMID:27342126   PMID:27344168   PMID:27375898   PMID:27387505   PMID:27407164   PMID:27462432   PMID:27512140   PMID:27545878   PMID:27561680  
PMID:27591049   PMID:27594680   PMID:27609421   PMID:27623077   PMID:27653958   PMID:27684187   PMID:27684549   PMID:27714797   PMID:27716483   PMID:27716508   PMID:27753622   PMID:27762274  
PMID:27785701   PMID:27812135   PMID:27851749   PMID:27887991   PMID:27913212   PMID:28027390   PMID:28036256   PMID:28057766   PMID:28115426   PMID:28137758   PMID:28180282   PMID:28183703  
PMID:28190767   PMID:28192407   PMID:28244869   PMID:28274878   PMID:28275011   PMID:28301499   PMID:28302793   PMID:28315680   PMID:28320958   PMID:28360103   PMID:28443643   PMID:28494016  
PMID:28512218   PMID:28514442   PMID:28515276   PMID:28551275   PMID:28564594   PMID:28575658   PMID:28581483   PMID:28614300   PMID:28675297   PMID:28685749   PMID:28689657   PMID:28692196  
PMID:28819009   PMID:28878026   PMID:28902428   PMID:28939772   PMID:28970065   PMID:28977470   PMID:29117863   PMID:29128334   PMID:29180510   PMID:29180619   PMID:29229926   PMID:29357390  
PMID:29395067   PMID:29467281   PMID:29467282   PMID:29491746   PMID:29507755   PMID:29509190   PMID:29540532   PMID:29599191   PMID:29653964   PMID:29655804   PMID:29656893   PMID:29676259  
PMID:29685906   PMID:29791485   PMID:29804830   PMID:29845934   PMID:29859926   PMID:29872149   PMID:29884807   PMID:29892012   PMID:29941173   PMID:29991511   PMID:29997244   PMID:30021884  
PMID:30029282   PMID:30069866   PMID:30097533   PMID:30100055   PMID:30103325   PMID:30126895   PMID:30196744   PMID:30209976   PMID:30309841   PMID:30335548   PMID:30344098   PMID:30352685  
PMID:30381397   PMID:30401747   PMID:30442662   PMID:30455355   PMID:30488450   PMID:30575818   PMID:30626938   PMID:30699358   PMID:30711629   PMID:30783609   PMID:30809309   PMID:30833792  
PMID:30886048   PMID:30890647   PMID:31059266   PMID:31073040   PMID:31091164   PMID:31091453   PMID:31177093   PMID:31180492   PMID:31239290   PMID:31267705   PMID:31300519   PMID:31316150  
PMID:31358864   PMID:31387940   PMID:31391242   PMID:31471528   PMID:31477623   PMID:31501420   PMID:31515488   PMID:31527668   PMID:31536960   PMID:31541095   PMID:31551363   PMID:31577344  
PMID:31586073   PMID:31613024   PMID:31623962   PMID:31640799   PMID:31648844   PMID:31659016   PMID:31672844   PMID:31700049   PMID:31701538   PMID:31723608   PMID:31732153   PMID:31740976  
PMID:31753913   PMID:31767634   PMID:31775559   PMID:31847414   PMID:31898222   PMID:31980649   PMID:31985874   PMID:31995728   PMID:32002125   PMID:32025036   PMID:32067276   PMID:32129710  
PMID:32149426   PMID:32152270   PMID:32243810   PMID:32291299   PMID:32296183   PMID:32416067   PMID:32457219   PMID:32481679   PMID:32552912   PMID:32645369   PMID:32671691   PMID:32728610  
PMID:32780723   PMID:32789493   PMID:32807901   PMID:32814053   PMID:32850835   PMID:32877691   PMID:33004675   PMID:33024031   PMID:33058883   PMID:33402676   PMID:33479240   PMID:33510452  
PMID:33514738   PMID:33620660   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
VCP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,053,928 - 35,072,668 (-)EnsemblGRCh38hg38GRCh38
GRCh38935,056,064 - 35,072,625 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,056,061 - 35,072,622 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,046,560 - 35,062,564 (-)NCBINCBI36hg18NCBI36
Build 34935,046,560 - 35,062,564NCBI
Celera934,988,041 - 35,004,706 (-)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,011,651 - 35,028,327 (-)NCBIHuRef
CHM1_1935,055,907 - 35,072,605 (-)NCBICHM1_1
Vcp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39442,979,964 - 43,000,507 (-)NCBIGRCm39mm39
GRCm39 Ensembl442,979,963 - 43,000,507 (-)Ensembl
GRCm38442,979,964 - 43,000,507 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl442,979,963 - 43,000,507 (-)EnsemblGRCm38mm10GRCm38
MGSCv37442,992,836 - 43,013,379 (-)NCBIGRCm37mm9NCBIm37
MGSCv36443,001,064 - 43,021,534 (-)NCBImm8
Celera443,010,123 - 43,030,659 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map422.95NCBI
Vcp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2557,210,167 - 57,229,571 (-)NCBI
Rnor_6.0 Ensembl558,426,549 - 58,445,953 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0558,426,548 - 58,445,953 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0562,951,999 - 62,971,402 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,472,100 - 59,491,508 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1559,472,279 - 59,491,687 (-)NCBI
Celera555,799,589 - 55,818,873 (-)NCBICelera
Cytogenetic Map5q22NCBI
Vcp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554721,107,164 - 1,124,076 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554721,111,649 - 1,124,076 (+)NCBIChiLan1.0ChiLan1.0
VCP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1935,712,937 - 35,729,588 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl935,712,937 - 35,729,588 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0934,907,147 - 34,923,227 (-)NCBIMhudiblu_PPA_v0panPan3
VCP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,636,986 - 51,651,749 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1151,637,411 - 51,651,714 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,205,792 - 50,220,556 (-)NCBI
ROS_Cfam_1.01152,702,444 - 52,717,215 (-)NCBI
UMICH_Zoey_3.11151,246,536 - 51,261,297 (-)NCBI
UNSW_CanFamBas_1.01151,231,677 - 51,246,443 (-)NCBI
UU_Cfam_GSD_1.01151,933,494 - 51,948,301 (-)NCBI
LOC101972576
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947166,538,385 - 166,554,770 (-)NCBI
SpeTri2.0NW_0049365243,085,959 - 3,102,461 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VCP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1235,796,446 - 235,876,321 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11235,854,532 - 235,869,712 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21263,379,929 - 263,394,992 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103219235
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11245,545,139 - 45,560,702 (+)NCBI
ChlSab1.1 Ensembl1245,545,507 - 45,563,380 (+)Ensembl
Vero_WHO_p1.0NW_02366603842,661,397 - 42,677,470 (+)NCBI
Vcp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624915253,240 - 270,440 (-)NCBI

Position Markers
D9S1791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37936,393,383 - 36,393,557UniSTSGRCh37
Build 36936,383,383 - 36,383,557RGDNCBI36
Celera936,326,666 - 36,326,840RGD
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p13UniSTS
HuRef936,346,058 - 36,346,232UniSTS
Marshfield Genetic Map959.34UniSTS
Marshfield Genetic Map959.34RGD
Genethon Genetic Map957.9UniSTS
deCODE Assembly Map957.8UniSTS
Whitehead-YAC Contig Map9 UniSTS
A002I21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,073,935 - 35,074,123UniSTSGRCh37
Build 36935,063,935 - 35,064,123RGDNCBI36
Celera935,005,902 - 35,006,090RGD
Cytogenetic Map9p13UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,029,523 - 35,029,711UniSTS
GeneMap99-GB4 RH Map9155.94UniSTS
Whitehead-RH Map9146.8UniSTS
RH102684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,056,221 - 35,056,341UniSTSGRCh37
Build 36935,046,221 - 35,046,341RGDNCBI36
Celera934,988,197 - 34,988,317RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,011,807 - 35,011,927UniSTS
GeneMap99-GB4 RH Map9137.45UniSTS
RH15902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,073,967 - 35,074,120UniSTSGRCh37
Build 36935,063,967 - 35,064,120RGDNCBI36
Celera935,005,934 - 35,006,087RGD
Cytogenetic Map9p13UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,029,555 - 35,029,708UniSTS
GeneMap99-GB4 RH Map9137.45UniSTS
NCBI RH Map9447.9UniSTS
STS-R69121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,056,548 - 35,056,703UniSTSGRCh37
Build 36935,046,548 - 35,046,703RGDNCBI36
Celera934,988,524 - 34,988,679RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,012,134 - 35,012,289UniSTS
GeneMap99-GB4 RH Map9137.88UniSTS
NCBI RH Map9448.4UniSTS
RH11835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,056,706 - 35,056,858UniSTSGRCh37
Build 36935,046,706 - 35,046,858RGDNCBI36
Celera934,988,682 - 34,988,834RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,012,292 - 35,012,444UniSTS
GeneMap99-GB4 RH Map9153.95UniSTS
WI-13566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,059,668 - 35,059,771UniSTSGRCh37
Build 36935,049,668 - 35,049,771RGDNCBI36
Celera934,991,644 - 34,991,747RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,015,254 - 35,015,357UniSTS
GeneMap99-GB4 RH Map9137.77UniSTS
Whitehead-RH Map9145.1UniSTS
FANCG_2802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,073,731 - 35,074,254UniSTSGRCh37
Build 36935,063,731 - 35,064,254RGDNCBI36
Celera935,005,698 - 35,006,221RGD
HuRef935,029,319 - 35,029,842UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR129-1hsa-miR-129-5pOncomiRDBexternal_infoNANA22536440
MIR129-2hsa-miR-129-5pOncomiRDBexternal_infoNANA22536440

Predicted Target Of
Summary Value
Count of predictions:1919
Count of miRNA genes:895
Interacting mature miRNAs:1091
Transcripts:ENST00000358901, ENST00000417448, ENST00000448530, ENST00000466100, ENST00000479300, ENST00000480327, ENST00000493886
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 7 2
Medium 2439 2969 1725 623 1938 464 4357 2187 3713 418 1453 1613 173 1 1204 2788 6 2
Low 22 1 1 13 1 10 21 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI343015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC122550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU689324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ871270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA880782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB524539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z70768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358901   ⟹   ENSP00000351777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,064 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000417448   ⟹   ENSP00000399456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,065,346 - 35,072,014 (-)Ensembl
RefSeq Acc Id: ENST00000448530   ⟹   ENSP00000392088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,064,246 - 35,072,627 (-)Ensembl
RefSeq Acc Id: ENST00000466100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,057,173 - 35,057,833 (-)Ensembl
RefSeq Acc Id: ENST00000479300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,059,061 - 35,059,892 (-)Ensembl
RefSeq Acc Id: ENST00000480327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,059,748 - 35,061,630 (-)Ensembl
RefSeq Acc Id: ENST00000493886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,870 - 35,072,549 (-)Ensembl
RefSeq Acc Id: ENST00000676836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,118 - 35,079,926 (-)Ensembl
RefSeq Acc Id: ENST00000677257   ⟹   ENSP00000504354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,055,376 - 35,072,601 (-)Ensembl
RefSeq Acc Id: ENST00000678018   ⟹   ENSP00000503811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,055,376 - 35,072,568 (-)Ensembl
RefSeq Acc Id: ENST00000678465   ⟹   ENSP00000504259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,055,376 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000678650   ⟹   ENSP00000503426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,055,376 - 35,072,561 (-)Ensembl
RefSeq Acc Id: ENST00000679204   ⟹   ENSP00000503131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,055,376 - 35,072,591 (-)Ensembl
RefSeq Acc Id: ENST00000679392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,068,251 - 35,072,635 (-)Ensembl
RefSeq Acc Id: ENST00000679449   ⟹   ENSP00000506658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,067,891 - 35,068,362 (-)Ensembl
RefSeq Acc Id: ENST00000679599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,621 - 35,072,623 (-)Ensembl
RefSeq Acc Id: ENST00000679647   ⟹   ENSP00000506216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,576 - 35,072,645 (-)Ensembl
RefSeq Acc Id: ENST00000679800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,055,376 - 35,072,591 (-)Ensembl
RefSeq Acc Id: ENST00000679862   ⟹   ENSP00000504990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,634 - 35,072,611 (-)Ensembl
RefSeq Acc Id: ENST00000679901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,068,251 - 35,072,561 (-)Ensembl
RefSeq Acc Id: ENST00000679902   ⟹   ENSP00000506338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,053,928 - 35,072,623 (-)Ensembl
RefSeq Acc Id: ENST00000680079   ⟹   ENSP00000506523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,066,675 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000680108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,068,251 - 35,072,635 (-)Ensembl
RefSeq Acc Id: ENST00000680520   ⟹   ENSP00000505308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,062,978 - 35,065,381 (-)Ensembl
RefSeq Acc Id: ENST00000680575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,068,251 - 35,072,635 (-)Ensembl
RefSeq Acc Id: ENST00000680731   ⟹   ENSP00000505497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,064,154 - 35,068,063 (-)Ensembl
RefSeq Acc Id: ENST00000680834   ⟹   ENSP00000506387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,061,015 - 35,065,308 (-)Ensembl
RefSeq Acc Id: ENST00000680900   ⟹   ENSP00000505674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,067,891 - 35,068,362 (-)Ensembl
RefSeq Acc Id: ENST00000680916   ⟹   ENSP00000505769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,596 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000681125   ⟹   ENSP00000505052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,061,015 - 35,062,350 (-)Ensembl
RefSeq Acc Id: ENST00000681335   ⟹   ENSP00000505230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,577 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000681386   ⟹   ENSP00000505509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,067,891 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000681537   ⟹   ENSP00000505847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,064 - 35,057,530 (-)Ensembl
RefSeq Acc Id: ENST00000681562   ⟹   ENSP00000505893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,065,251 - 35,066,817 (-)Ensembl
RefSeq Acc Id: ENST00000681690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,056,652 - 35,072,625 (-)Ensembl
RefSeq Acc Id: ENST00000681789   ⟹   ENSP00000505142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,062,978 - 35,065,381 (-)Ensembl
RefSeq Acc Id: NM_001354927   ⟹   NP_001341856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,056,064 - 35,072,625 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354928   ⟹   NP_001341857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,056,064 - 35,072,625 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007126   ⟹   NP_009057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,056,064 - 35,072,625 (-)NCBI
GRCh37935,056,065 - 35,072,739 (-)ENTREZGENE
Build 36935,046,560 - 35,062,564 (-)NCBI Archive
HuRef935,011,651 - 35,028,327 (-)ENTREZGENE
CHM1_1935,055,907 - 35,072,605 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009057   ⟸   NM_007126
- Peptide Label: isoform 1
- UniProtKB: P55072 (UniProtKB/Swiss-Prot),   V9HW80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341856   ⟸   NM_001354927
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001341857   ⟸   NM_001354928
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000399456   ⟸   ENST00000417448
RefSeq Acc Id: ENSP00000392088   ⟸   ENST00000448530
RefSeq Acc Id: ENSP00000351777   ⟸   ENST00000358901
RefSeq Acc Id: ENSP00000504354   ⟸   ENST00000677257
RefSeq Acc Id: ENSP00000503811   ⟸   ENST00000678018
RefSeq Acc Id: ENSP00000504259   ⟸   ENST00000678465
RefSeq Acc Id: ENSP00000503426   ⟸   ENST00000678650
RefSeq Acc Id: ENSP00000503131   ⟸   ENST00000679204
RefSeq Acc Id: ENSP00000505509   ⟸   ENST00000681386
RefSeq Acc Id: ENSP00000506338   ⟸   ENST00000679902
RefSeq Acc Id: ENSP00000505052   ⟸   ENST00000681125
RefSeq Acc Id: ENSP00000505893   ⟸   ENST00000681562
RefSeq Acc Id: ENSP00000506523   ⟸   ENST00000680079
RefSeq Acc Id: ENSP00000505769   ⟸   ENST00000680916
RefSeq Acc Id: ENSP00000505308   ⟸   ENST00000680520
RefSeq Acc Id: ENSP00000505847   ⟸   ENST00000681537
RefSeq Acc Id: ENSP00000505142   ⟸   ENST00000681789
RefSeq Acc Id: ENSP00000505497   ⟸   ENST00000680731
RefSeq Acc Id: ENSP00000505674   ⟸   ENST00000680900
RefSeq Acc Id: ENSP00000506387   ⟸   ENST00000680834
RefSeq Acc Id: ENSP00000506216   ⟸   ENST00000679647
RefSeq Acc Id: ENSP00000506658   ⟸   ENST00000679449
RefSeq Acc Id: ENSP00000505230   ⟸   ENST00000681335
RefSeq Acc Id: ENSP00000504990   ⟸   ENST00000679862
Protein Domains
AAA   CDC48_2   CDC48_N

Promoters
RGD ID:6808407
Promoter ID:HG_KWN:63051
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052291
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,047,386 - 35,048,217 (-)MPROMDB
RGD ID:6808409
Promoter ID:HG_KWN:63052
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052292
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,049,391 - 35,050,867 (-)MPROMDB
RGD ID:6808411
Promoter ID:HG_KWN:63053
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000335213
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,051,516 - 35,052,617 (-)MPROMDB
RGD ID:6808410
Promoter ID:HG_KWN:63054
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052290,   OTTHUMT00000052293,   OTTHUMT00000052295,   UC003ZVZ.2,   UC010MKH.1,   UC010MKI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,061,971 - 35,063,602 (-)MPROMDB
RGD ID:6852220
Promoter ID:EP73916
Type:multiple initiation site
Name:HS_VCP_2
Description:Valosin-containing protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP73915  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,062,538 - 35,062,598EPD
RGD ID:6852218
Promoter ID:EP73915
Type:initiation region
Name:HS_VCP_1
Description:Valosin-containing protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP73916  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,062,608 - 35,062,668EPD
RGD ID:7214965
Promoter ID:EPDNEW_H13229
Type:initiation region
Name:VCP_1
Description:valosin containing protein
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
GRCh38935,072,625 - 35,072,685EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007126.5(VCP):c.1082-9G>T single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000546267]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001166032]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV001166033]|not specified [RCV001289413] Chr9:35061698 [GRCh38]
Chr9:35061695 [GRCh37]
Chr9:9p13.3
benign
NM_007126.5(VCP):c.303-3C>T single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000551678] Chr9:35066820 [GRCh38]
Chr9:35066817 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.426G>A (p.Ala142=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000525916]|not provided [RCV000598290] Chr9:35066694 [GRCh38]
Chr9:35066691 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000795760]|not provided [RCV000728008] Chr9:35067916 [GRCh38]
Chr9:35067913 [GRCh37]
Chr9:9p13.3
pathogenic
NM_007126.5(VCP):c.258A>G (p.Arg86=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001408701]|not provided [RCV000729518] Chr9:35067935 [GRCh38]
Chr9:35067932 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.1242G>A (p.Leu414=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001221457]|not provided [RCV000729642] Chr9:35061132 [GRCh38]
Chr9:35061129 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1156A>G (p.Lys386Glu) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001346989]|not provided [RCV000729360] Chr9:35061615 [GRCh38]
Chr9:35061612 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.576+10C>G single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001496176]|not provided [RCV000529553] Chr9:35065241 [GRCh38]
Chr9:35065238 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.1017A>G (p.Ala339=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001467986]|not provided [RCV000545337] Chr9:35062067 [GRCh38]
Chr9:35062064 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.2077C>T (p.Arg693Cys) single nucleotide variant not provided [RCV000523151] Chr9:35059147 [GRCh38]
Chr9:35059144 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_007126.5(VCP):c.1160A>C (p.Asn387Thr) single nucleotide variant not specified [RCV000517850] Chr9:35061611 [GRCh38]
Chr9:35061608 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.464G>A (p.Arg155His) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000540496]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001271089]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000008989]|not provided [RCV000523065] Chr9:35065363 [GRCh38]
Chr9:35065360 [GRCh37]
Chr9:9p13.3
pathogenic
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000685660]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001095424]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000008990]|not provided [RCV000372207] Chr9:35065364 [GRCh38]
Chr9:35065361 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_007126.5(VCP):c.695C>A (p.Ala232Glu) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000008991]|not provided [RCV001172005] Chr9:35064167 [GRCh38]
Chr9:35064164 [GRCh37]
Chr9:9p13.3
pathogenic
NM_007126.5(VCP):c.283C>G (p.Arg95Gly) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000008992] Chr9:35067910 [GRCh38]
Chr9:35067907 [GRCh37]
Chr9:9p13.3
pathogenic
NM_007126.5(VCP):c.464G>C (p.Arg155Pro) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001387337]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000008993] Chr9:35065363 [GRCh38]
Chr9:35065360 [GRCh37]
Chr9:9p13.3
pathogenic
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000023064]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000555373]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000008994]|not provided [RCV000516636] Chr9:35065255 [GRCh38]
Chr9:35065252 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007126.5(VCP):c.476G>A (p.Arg159His) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000639653]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000008995]|not provided [RCV000276565] Chr9:35065351 [GRCh38]
Chr9:35065348 [GRCh37]
Chr9:9p13.3
pathogenic
NM_007126.5(VCP):c.475C>G (p.Arg159Gly) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000023065] Chr9:35065352 [GRCh38]
Chr9:35065349 [GRCh37]
Chr9:9p13.3
pathogenic
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000023066] Chr9:35059723 [GRCh38]
Chr9:35059720 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
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 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
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 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
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 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3
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
NM_007126.3(VCP):c.489C>T (p.Phe163=) single nucleotide variant Malignant melanoma [RCV000068646] Chr9:35065338 [GRCh38]
Chr9:35065335 [GRCh37]
Chr9:35055335 [NCBI36]
Chr9:9p13.3
not provided
NM_007126.5(VCP):c.2214A>G (p.Glu738=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000399763]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001087937]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000346373]|not provided [RCV000526744]|not specified [RCV000175065] Chr9:35057477 [GRCh38]
Chr9:35057474 [GRCh37]
Chr9:9p13.3
benign|likely benign
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
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 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
NM_007126.5(VCP):c.2406T>C (p.Asp802=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001085623]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001168166]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV001167538]|not provided [RCV000762559]|not specified [RCV000175197] Chr9:35057132 [GRCh38]
Chr9:35057129 [GRCh37]
Chr9:9p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) single nucleotide variant Charcot-Marie-Tooth disease, axonal, type 2y [RCV000202444]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000823223] Chr9:35065274 [GRCh38]
Chr9:35065271 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|uncertain significance
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) single nucleotide variant Charcot-Marie-Tooth disease, axonal, type 2y [RCV000202492] Chr9:35067903 [GRCh38]
Chr9:35067900 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
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 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
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 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
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 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
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
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
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
NM_007126.5(VCP):c.463C>G (p.Arg155Gly) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000196145]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000801089]|not provided [RCV000494556] Chr9:35065364 [GRCh38]
Chr9:35065361 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|uncertain significance
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001271088]|INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 [RCV001271081]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000201935] Chr9:35067922 [GRCh38]
Chr9:35067919 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001215048]|Amyotrophic lateral sclerosis [RCV001095441]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000761344]|Spastic paraplegia [RCV001391611]|not provided [RCV000280148] Chr9:35067910 [GRCh38]
Chr9:35067907 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_007126.5(VCP):c.*4G>T single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000291446]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000376145]|Intellectual disability [RCV001252622]|not specified [RCV000301970] Chr9:35057113 [GRCh38]
Chr9:35057110 [GRCh37]
Chr9:9p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001095425]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000797868]|not provided [RCV000333881] Chr9:35065352 [GRCh38]
Chr9:35065349 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
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
NM_007126.5(VCP):c.1704A>G (p.Gln568=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000390268]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001083290]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000312517]|not provided [RCV000714165]|not specified [RCV000246121] Chr9:35059793 [GRCh38]
Chr9:35059790 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.1082-18_1082-8dup duplication Amyotrophic Lateral Sclerosis, Dominant [RCV000321686]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000639658]|Inclusion Body Myopathy, Dominant [RCV000383262]|not specified [RCV000243886] Chr9:35061696..35061697 [GRCh38]
Chr9:35061693..35061694 [GRCh37]
Chr9:9p13.3
benign
NM_007126.5(VCP):c.129+47G>A single nucleotide variant not specified [RCV000253783] Chr9:35068204 [GRCh38]
Chr9:35068201 [GRCh37]
Chr9:9p13.3
benign
NM_007126.5(VCP):c.1194+9ATG[2] microsatellite not specified [RCV000249024] Chr9:35061560..35061562 [GRCh38]
Chr9:35061557..35061559 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.1360-35A>G single nucleotide variant not specified [RCV000249111] Chr9:35060958 [GRCh38]
Chr9:35060955 [GRCh37]
Chr9:9p13.3
benign
NM_007126.5(VCP):c.1360-14C>G single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000324520]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000259903]|not specified [RCV000244337] Chr9:35060937 [GRCh38]
Chr9:35060934 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.1695+8A>G single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000367237]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001520362]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000393728]|not provided [RCV000710280]|not specified [RCV000254320] Chr9:35060305 [GRCh38]
Chr9:35060302 [GRCh37]
Chr9:9p13.3
benign
NM_007126.5(VCP):c.577-21_577-18del microsatellite not specified [RCV000254424] Chr9:35064303..35064306 [GRCh38]
Chr9:35064300..35064303 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.2316-48C>T single nucleotide variant not specified [RCV000249624] Chr9:35057270 [GRCh38]
Chr9:35057267 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.1081+17C>T single nucleotide variant not specified [RCV000252085] Chr9:35061986 [GRCh38]
Chr9:35061983 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.811+3G>A single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000294534]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001520363]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000382040]|not provided [RCV000710281]|not specified [RCV000244946] Chr9:35062975 [GRCh38]
Chr9:35062972 [GRCh37]
Chr9:9p13.3
benign
NM_007126.5(VCP):c.*64C>T single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000340221]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000285114] Chr9:35057053 [GRCh38]
Chr9:35057050 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.*382C>T single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000269388]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000363922] Chr9:35056735 [GRCh38]
Chr9:35056732 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.*438A>G single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000303765]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000339601] Chr9:35056679 [GRCh38]
Chr9:35056676 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.-267C>T single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000270492]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001166090]|Inclusion Body Myopathy, Dominant [RCV000362697]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV001166091] Chr9:35072620 [GRCh38]
Chr9:35072617 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.927C>T (p.Ile309=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000325072]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001080044]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000291230]|not provided [RCV000714167]|not specified [RCV000728435] Chr9:35062235 [GRCh38]
Chr9:35062232 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.*384del deletion Amyotrophic Lateral Sclerosis, Dominant [RCV000390511]|Inclusion Body Myopathy, Dominant [RCV000309265] Chr9:35056733 [GRCh38]
Chr9:35056730 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.*906A>G single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000330855]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000386372] Chr9:35056211 [GRCh38]
Chr9:35056208 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.18-5T>C single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000293440]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001086142]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000338806]|not provided [RCV000548347] Chr9:35068367 [GRCh38]
Chr9:35068364 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.*700C>A single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000373728]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000279189] Chr9:35056417 [GRCh38]
Chr9:35056414 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.*153G>T single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000315799]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000379622] Chr9:35056964 [GRCh38]
Chr9:35056961 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.1092C>T (p.Asp364=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000264259]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000560152]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000360586] Chr9:35061679 [GRCh38]
Chr9:35061676 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.-53C>T single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000400582]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000298964] Chr9:35072406 [GRCh38]
Chr9:35072403 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1360-6T>C single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000299794]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000354748] Chr9:35060929 [GRCh38]
Chr9:35060926 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.*596C>T single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000401604]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000343505] Chr9:35056521 [GRCh38]
Chr9:35056518 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.954C>T (p.Gly318=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001069332]|not provided [RCV000338106] Chr9:35062130 [GRCh38]
Chr9:35062127 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.*172C>G single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000373981]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000260516] Chr9:35056945 [GRCh38]
Chr9:35056942 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.*788G>A single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000337724]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000282676] Chr9:35056329 [GRCh38]
Chr9:35056326 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.-250C>T single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000272098]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000329052] Chr9:35072603 [GRCh38]
Chr9:35072600 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.-233_-228GCTGCC[4] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000359673]|Inclusion Body Myopathy, Dominant [RCV000302695] Chr9:35072568..35072569 [GRCh38]
Chr9:35072565..35072566 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1121C>A (p.Ala374Asp) single nucleotide variant not provided [RCV000284424] Chr9:35061650 [GRCh38]
Chr9:35061647 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.79A>G (p.Ile27Val) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000639655]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001168490]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV001168987]|Intellectual disability [RCV001252623]|not specified [RCV000390549] Chr9:35068301 [GRCh38]
Chr9:35068298 [GRCh37]
Chr9:9p13.3
benign|uncertain significance
NM_007126.5(VCP):c.*184G>A single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000275373]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000319333] Chr9:35056933 [GRCh38]
Chr9:35056930 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1584C>T (p.Ala528=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001081085]|Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001168167]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV001168925]|not provided [RCV000321351] Chr9:35060424 [GRCh38]
Chr9:35060421 [GRCh37]
Chr9:9p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.*1035dup duplication Amyotrophic Lateral Sclerosis, Dominant [RCV000275786]|Inclusion Body Myopathy, Dominant [RCV000388903] Chr9:35056081..35056082 [GRCh38]
Chr9:35056078..35056079 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1197A>G (p.Val399=) single nucleotide variant not provided [RCV000395681] Chr9:35061177 [GRCh38]
Chr9:35061174 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.278G>A (p.Arg93His) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000639651]|not provided [RCV000520021] Chr9:35067915 [GRCh38]
Chr9:35067912 [GRCh37]
Chr9:9p13.3
likely pathogenic|uncertain significance
NM_007126.5(VCP):c.1184A>G (p.Asp395Gly) single nucleotide variant FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES [RCV001271084] Chr9:35061587 [GRCh38]
Chr9:35061584 [GRCh37]
Chr9:9p13.3
pathogenic
NM_007126.5(VCP):c.*347C>T single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000315190]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000369915] Chr9:35056770 [GRCh38]
Chr9:35056767 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000404884]|Fanconi anemia [RCV000334548]|Fanconi anemia, complementation group G [RCV001168308]|Inclusion Body Myopathy, Dominant [RCV000312936]|not specified [RCV000421683] Chr9:35074493 [GRCh38]
Chr9:35074490 [GRCh37]
Chr9:9p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007126.3(VCP):c.-370G>A single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000332626]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000389517] Chr9:35072723 [GRCh38]
Chr9:35072720 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1856T>C (p.Ile619Thr) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000306523]|Inclusion Body Myopathy, Dominant [RCV000352284] Chr9:35059641 [GRCh38]
Chr9:35059638 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.185A>G (p.Lys62Arg) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000351753]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000396114] Chr9:35068008 [GRCh38]
Chr9:35068005 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_004629.1(FANCG):c.1636+7A>G single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000367549]|Fanconi anemia [RCV000394450]|Fanconi anemia, complementation group G [RCV001168309]|Inclusion Body Myopathy, Dominant [RCV000275986]|not specified [RCV000247570] Chr9:35074920 [GRCh38]
Chr9:35074917 [GRCh37]
Chr9:9p13.3
benign
NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000353275]|Fanconi anemia [RCV000229666]|Fanconi anemia, complementation group G [RCV001168311]|Inclusion Body Myopathy, Dominant [RCV000317116]|not provided [RCV001194965]|not specified [RCV000121035] Chr9:35075025 [GRCh38]
Chr9:35075022 [GRCh37]
Chr9:9p13.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004629.1(FANCG):c.640C>T (p.Arg214Cys) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000323780]|Fanconi anemia [RCV000234540]|Fanconi anemia, complementation group G [RCV001166142]|Inclusion Body Myopathy, Dominant [RCV000378873]|not specified [RCV000121040] Chr9:35077270 [GRCh38]
Chr9:35077267 [GRCh37]
Chr9:9p13.3
benign|likely benign|not provided
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000377286]|Fanconi anemia [RCV000302780]|Fanconi anemia, complementation group G [RCV001166139]|Inclusion Body Myopathy, Dominant [RCV000282744]|not provided [RCV000514324]|not specified [RCV000121041] Chr9:35076758 [GRCh38]
Chr9:35076755 [GRCh37]
Chr9:9p13.3
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000318068]|Fanconi anemia [RCV000342448]|Fanconi anemia, complementation group G [RCV001169045]|Inclusion Body Myopathy, Dominant [RCV000262883]|not specified [RCV000121044] Chr9:35075972 [GRCh38]
Chr9:35075969 [GRCh37]
Chr9:9p13.3
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_007126.5(VCP):c.-215A>G single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000407512]|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000360664] Chr9:35072568 [GRCh38]
Chr9:35072565 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1929C>T (p.Ile643=) single nucleotide variant not provided [RCV000591899] Chr9:35059568 [GRCh38]
Chr9:35059565 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1896C>A (p.Ala632=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001403231]|not provided [RCV000598527] Chr9:35059601 [GRCh38]
Chr9:35059598 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_007126.5(VCP):c.2121T>G (p.Ile707Met) single nucleotide variant not provided [RCV000592679] Chr9:35059103 [GRCh38]
Chr9:35059100 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.555A>C (p.Glu185Asp) single nucleotide variant not provided [RCV000730388] Chr9:35065272 [GRCh38]
Chr9:35065269 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.552C>T (p.Cys184=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000639659] Chr9:35065275 [GRCh38]
Chr9:35065272 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.213C>T (p.Val71=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000639660] Chr9:35067980 [GRCh38]
Chr9:35067977 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000534353] Chr9:35061172 [GRCh38]
Chr9:35061169 [GRCh37]
Chr9:9p13.3
likely benign
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
NM_007126.5(VCP):c.1863C>T (p.Gly621=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001462593]|not provided [RCV000728329] Chr9:35059634 [GRCh38]
Chr9:35059631 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_007126.5(VCP):c.2412G>A (p.Leu804=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001463039]|not provided [RCV000541343] Chr9:35057126 [GRCh38]
Chr9:35057123 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.811+2T>C single nucleotide variant not provided [RCV000733871] Chr9:35062976 [GRCh38]
Chr9:35062973 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.2283C>T (p.Thr761=) single nucleotide variant not provided [RCV000731379] Chr9:35057408 [GRCh38]
Chr9:35057405 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.284G>C (p.Arg95Pro) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001046936]|not provided [RCV000731593] Chr9:35067909 [GRCh38]
Chr9:35067906 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.340A>G (p.Ile114Val) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000801185]|not provided [RCV000733637] Chr9:35066780 [GRCh38]
Chr9:35066777 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1488T>C (p.Pro496=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001402342]|not provided [RCV000730972] Chr9:35060520 [GRCh38]
Chr9:35060517 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
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
NM_007126.5(VCP):c.1374G>C (p.Gln458His) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000449528] Chr9:35060909 [GRCh38]
Chr9:35060906 [GRCh37]
Chr9:9p13.3
uncertain significance
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 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_007126.5(VCP):c.827G>C (p.Ser276Thr) single nucleotide variant not specified [RCV000518809] Chr9:35062335 [GRCh38]
Chr9:35062332 [GRCh37]
Chr9:9p13.3
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
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_007126.5(VCP):c.812G>C (p.Gly271Ala) single nucleotide variant not provided [RCV000483569] Chr9:35062350 [GRCh38]
Chr9:35062347 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.383G>C (p.Gly128Ala) single nucleotide variant not provided [RCV000498690] Chr9:35066737 [GRCh38]
Chr9:35066734 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_007126.5(VCP):c.1614C>G (p.Asn538Lys) single nucleotide variant not provided [RCV000497568] Chr9:35060394 [GRCh38]
Chr9:35060391 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_007126.5(VCP):c.1875G>T (p.Arg625=) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000639662]|not specified [RCV000594187] Chr9:35059622 [GRCh38]
Chr9:35059619 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_007126.5(VCP):c.1433A>G (p.Asp478Gly) single nucleotide variant not provided [RCV000595705] Chr9:35060850 [GRCh38]
Chr9:35060847 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1327A>C (p.Asn443His) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000639652] Chr9:35061047 [GRCh38]
Chr9:35061044 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1950G>A (p.Glu650=) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000639657] Chr9:35059547 [GRCh38]
Chr9:35059544 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.1483-5C>T single nucleotide variant not provided [RCV000594707] Chr9:35060530 [GRCh38]
Chr9:35060527 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.1696-7C>T single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000559254] Chr9:35059808 [GRCh38]
Chr9:35059805 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.479C>T (p.Ala160Val) single nucleotide variant Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 [RCV000639649] Chr9:35065348 [GRCh38]
Chr9:35065345 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000639654]|not provided [RCV000993545] Chr9:35065349 [GRCh38]
Chr9:35065346 [GRCh37]
Chr9:9p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_007126.5(VCP):c.2316-4A>G single nucleotide variant Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000639664] Chr9:35057226 [GRCh38]
Chr9:35057223 [GRCh37]
Chr9:9p13.3
likely benign
NM_007126.5(VCP):c.811+2_811+3inv inversion Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV000539857] Chr9:35062975..35062976 [GRCh38]
Chr9:35062972..350