HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1) - Rat Genome Database

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Gene: HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1) Homo sapiens
Analyze
Symbol: HNRNPA1
Name: heterogeneous nuclear ribonucleoprotein A1
RGD ID: 1348965
HGNC Page HGNC
Description: Enables identical protein binding activity; nucleic acid binding activity; and protein domain specific binding activity. Involved in several processes, including cellular response to sodium arsenite; nucleocytoplasmic transport; and regulation of telomere maintenance via telomerase. Located in cytoplasm and nucleoplasm. Part of catalytic step 2 spliceosome. Implicated in amyotrophic lateral sclerosis type 20; inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3; and tropical spastic paraparesis. Biomarker of Alzheimer's disease; hepatocellular carcinoma; and lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALS19; ALS20; helix-destabilizing protein; heterogeneous nuclear ribonucleoprotein A1B protein; heterogeneous nuclear ribonucleoprotein B2 protein; heterogeneous nuclear ribonucleoprotein core protein A1; hnRNP A1; hnRNP A1-like 3; hnRNP core protein A1; hnRNP core protein A1-like 3; hnRNP-A1; HNRPA1; HNRPA1L3; IBMPFD3; MGC102835; nuclear ribonucleoprotein particle A1 protein; Putative heterogeneous nuclear ribonucleoprotein A1-like 3; single-strand DNA-binding protein UP1; single-strand RNA-binding protein; UP 1
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 Ensembl1254,280,193 - 54,287,088 (+)EnsemblGRCh38hg38GRCh38
GRCh381254,280,726 - 54,287,087 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371254,674,510 - 54,680,871 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361252,960,755 - 52,965,297 (+)NCBINCBI36hg18NCBI36
Build 341252,960,754 - 52,965,297NCBI
Celera1254,326,467 - 54,331,009 (+)NCBI
Cytogenetic Map12q13.13NCBI
HuRef1251,713,759 - 51,718,301 (+)NCBIHuRef
CHM1_11254,641,226 - 54,645,768 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (ISO)
acrolein  (EXP)
actinomycin D  (ISO)
aflatoxin B1  (ISO)
alachlor  (ISO)
alpha-pinene  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beryllium sulfate  (EXP)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
butanal  (EXP)
butyric acid  (ISO)
cadmium atom  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
capsaicin  (ISO)
carbon nanotube  (ISO)
carvedilol  (EXP,ISO)
cefaloridine  (ISO)
chloroprene  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
crocidolite asbestos  (ISO)
curcumin  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glycidol  (ISO)
hydrazine  (ISO)
irinotecan  (EXP)
ivermectin  (EXP)
josamycin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
methylmercury chloride  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorooctanoic acid  (ISO)
phorone  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP,ISO)
tunicamycin  (EXP,ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
Yessotoxin  (EXP)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal morphology of the abdominal musculature  (IAGP)
Abnormality of calvarial morphology  (IAGP)
Abnormality of long bone morphology  (IAGP)
Agitation  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Brain atrophy  (IAGP)
Calvarial hyperostosis  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Congestive heart failure  (IAGP)
Cranial nerve compression  (IAGP)
Depression  (IAGP)
Distal muscle weakness  (IAGP)
Dyscalculia  (IAGP)
Dyspnea  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: chronic denervation signs  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Emotional lability  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fatigue  (IAGP)
Fatty replacement of skeletal muscle  (IAGP)
Frontotemporal dementia  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized muscle weakness  (IAGP)
Hepatic steatosis  (IAGP)
Hip pain  (IAGP)
Hyperlordosis  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Intellectual disability  (IAGP)
Language impairment  (IAGP)
Laryngospasm  (IAGP)
Limb-girdle muscular dystrophy  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor axonal neuropathy  (IAGP)
Muscle fiber inclusion bodies  (IAGP)
Muscle spasm  (IAGP)
Muscular dystrophy  (IAGP)
Mutism  (IAGP)
Myopathy  (IAGP)
Nausea and vomiting  (IAGP)
Neurodegeneration  (IAGP)
Osteolysis  (IAGP)
Pain  (IAGP)
Paralysis  (IAGP)
Pathologic fracture  (IAGP)
Proximal muscle weakness  (IAGP)
Respiratory failure  (IAGP)
Rimmed vacuoles  (IAGP)
Sensory axonal neuropathy  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Ubiquitin-positive cerebral inclusion bodies  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Waddling gait  (IAGP)
Weakness of muscles of respiration  (IAGP)
Xerostomia  (IAGP)
References

Additional References at PubMed
PMID:1691095   PMID:1733858   PMID:2176620   PMID:2760922   PMID:2836799   PMID:3023065   PMID:7505766   PMID:7730395   PMID:7769000   PMID:8288564   PMID:8473331   PMID:8521471  
PMID:8663146   PMID:8883365   PMID:8889548   PMID:9115444   PMID:9144189   PMID:9164463   PMID:9731529   PMID:9891755   PMID:9925777   PMID:10212141   PMID:10323862   PMID:10332027  
PMID:10383403   PMID:10749975   PMID:10772824   PMID:10772858   PMID:10843177   PMID:11003644   PMID:11313474   PMID:11546873   PMID:11779509   PMID:11790298   PMID:11825891   PMID:11884611  
PMID:11893730   PMID:11991638   PMID:12060656   PMID:12212851   PMID:12226669   PMID:12419255   PMID:12458794   PMID:12477932   PMID:12565831   PMID:12612063   PMID:12665590   PMID:12716975  
PMID:12777385   PMID:12799433   PMID:12927788   PMID:12945950   PMID:14559993   PMID:14611647   PMID:14633690   PMID:14645369   PMID:14667819   PMID:14690413   PMID:14703516   PMID:14704337  
PMID:14729942   PMID:15047060   PMID:15161933   PMID:15161980   PMID:15208309   PMID:15210956   PMID:15231747   PMID:15342234   PMID:15489334   PMID:15492215   PMID:15525641   PMID:15592455  
PMID:15604093   PMID:15635413   PMID:15671034   PMID:15703079   PMID:15703818   PMID:15782174   PMID:15848144   PMID:15861128   PMID:15862300   PMID:16000324   PMID:16097034   PMID:16111636  
PMID:16159877   PMID:16169070   PMID:16230076   PMID:16449650   PMID:16600502   PMID:16603717   PMID:16611982   PMID:16916647   PMID:16990281   PMID:17081983   PMID:17110431   PMID:17229681  
PMID:17264152   PMID:17287399   PMID:17289661   PMID:17332742   PMID:17353911   PMID:17371836   PMID:17558416   PMID:17611602   PMID:17620599   PMID:17643375   PMID:17803295   PMID:17884807  
PMID:17898077   PMID:17950949   PMID:18029348   PMID:18391021   PMID:18457437   PMID:18483487   PMID:18562319   PMID:18846111   PMID:18850631   PMID:19004954   PMID:19101556   PMID:19135240  
PMID:19282454   PMID:19322201   PMID:19339352   PMID:19349988   PMID:19430204   PMID:19667073   PMID:19710015   PMID:19715280   PMID:19737937   PMID:19738201   PMID:19808671   PMID:19913121  
PMID:19926721   PMID:19928837   PMID:19946888   PMID:20000738   PMID:20010808   PMID:20020773   PMID:20133837   PMID:20186123   PMID:20301623   PMID:20301649   PMID:20348541   PMID:20458337  
PMID:20467437   PMID:20628086   PMID:20639884   PMID:20850016   PMID:20872967   PMID:20974848   PMID:20978194   PMID:21081503   PMID:21081666   PMID:21120954   PMID:21145461   PMID:21182205  
PMID:21319273   PMID:21398516   PMID:21399625   PMID:21454539   PMID:21548758   PMID:21627027   PMID:21642987   PMID:21832049   PMID:21858080   PMID:21873635   PMID:21942715   PMID:21984414  
PMID:21988832   PMID:22079093   PMID:22132154   PMID:22174317   PMID:22187150   PMID:22199357   PMID:22227431   PMID:22268729   PMID:22285803   PMID:22325350   PMID:22365833   PMID:22412018  
PMID:22446626   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22751105   PMID:22810585   PMID:22821376   PMID:22863883   PMID:22939629   PMID:22944692   PMID:22983828   PMID:22990118  
PMID:23035981   PMID:23106379   PMID:23125841   PMID:23184937   PMID:23383273   PMID:23394998   PMID:23398456   PMID:23430061   PMID:23438482   PMID:23443559   PMID:23455423   PMID:23463506  
PMID:23602568   PMID:23658645   PMID:23825951   PMID:23827524   PMID:23935072   PMID:23985572   PMID:24001602   PMID:24119545   PMID:24166503   PMID:24189400   PMID:24189637   PMID:24244333  
PMID:24332808   PMID:24337577   PMID:24457600   PMID:24514149   PMID:24529708   PMID:24530421   PMID:24549040   PMID:24591637   PMID:24612671   PMID:24628426   PMID:24690621   PMID:24711643  
PMID:24720748   PMID:24831962   PMID:24981860   PMID:25009770   PMID:25144556   PMID:25324306   PMID:25338872   PMID:25349213   PMID:25437307   PMID:25616961   PMID:25678563   PMID:25689357  
PMID:25752295   PMID:25798074   PMID:25849387   PMID:25900982   PMID:25921289   PMID:25959826   PMID:25963833   PMID:26011126   PMID:26056150   PMID:26151392   PMID:26167880   PMID:26186194  
PMID:26209609   PMID:26217791   PMID:26247723   PMID:26318153   PMID:26344197   PMID:26412307   PMID:26460568   PMID:26494299   PMID:26496610   PMID:26518267   PMID:26549023   PMID:26581508  
PMID:26607354   PMID:26616862   PMID:26641092   PMID:26673895   PMID:26674223   PMID:26693507   PMID:26757361   PMID:26760575   PMID:26791953   PMID:26825578   PMID:26869449   PMID:26912663  
PMID:26930004   PMID:26979993   PMID:27025967   PMID:27129302   PMID:27168114   PMID:27211563   PMID:27380775   PMID:27489271   PMID:27545878   PMID:27591049   PMID:27595546   PMID:27609421  
PMID:27684187   PMID:27694260   PMID:27751915   PMID:27913144   PMID:27958374   PMID:28000042   PMID:28024152   PMID:28027390   PMID:28035066   PMID:28084329   PMID:28115626   PMID:28162770  
PMID:28193894   PMID:28298427   PMID:28302793   PMID:28416769   PMID:28431233   PMID:28443643   PMID:28504207   PMID:28514442   PMID:28515276   PMID:28625847   PMID:28650318   PMID:28791797  
PMID:28902428   PMID:28927264   PMID:28977470   PMID:28977666   PMID:28986522   PMID:29033165   PMID:29077485   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29228324   PMID:29229447  
PMID:29229926   PMID:29298432   PMID:29331416   PMID:29367466   PMID:29395067   PMID:29396485   PMID:29467282   PMID:29484423   PMID:29507755   PMID:29511296   PMID:29625167   PMID:29650551  
PMID:29762696   PMID:29777862   PMID:29802200   PMID:29845934   PMID:29859926   PMID:29872149   PMID:29884807   PMID:29931370   PMID:29946118   PMID:29996671   PMID:30009671   PMID:30021884  
PMID:30042133   PMID:30190085   PMID:30196744   PMID:30209976   PMID:30258100   PMID:30320910   PMID:30357359   PMID:30368881   PMID:30463901   PMID:30575818   PMID:30719818   PMID:30804502  
PMID:30858544   PMID:30940648   PMID:30948266   PMID:30954215   PMID:30988076   PMID:30997501   PMID:31002816   PMID:31043593   PMID:31048545   PMID:31059266   PMID:31091453   PMID:31180492  
PMID:31239290   PMID:31253590   PMID:31257225   PMID:31287951   PMID:31300519   PMID:31311954   PMID:31498791   PMID:31527668   PMID:31586073   PMID:31665637   PMID:31685992   PMID:31796584  
PMID:31868085   PMID:31980649   PMID:31995728   PMID:32041737   PMID:32106859   PMID:32129710   PMID:32200451   PMID:32322062   PMID:32347575   PMID:32417965   PMID:32521226   PMID:32529326  
PMID:32538781   PMID:32560659   PMID:32665550   PMID:32694731   PMID:32754263   PMID:32759322   PMID:32780723   PMID:32800545   PMID:32807901   PMID:32877691   PMID:32929329   PMID:32960212  
PMID:32994395   PMID:33022573   PMID:33194618   PMID:33311513   PMID:33319070   PMID:33403043   PMID:33405298   PMID:33422616   PMID:33441818   PMID:33457194   PMID:33507382   PMID:33545634  
PMID:33564070   PMID:33573689   PMID:33644029   PMID:33651408   PMID:33782401   PMID:33809384   PMID:33916271   PMID:33951764   PMID:33957083   PMID:33961781   PMID:34071140   PMID:34079125  
PMID:34080184  


Genomics

Comparative Map Data
HNRNPA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1254,280,193 - 54,287,088 (+)EnsemblGRCh38hg38GRCh38
GRCh381254,280,726 - 54,287,087 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371254,674,510 - 54,680,871 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361252,960,755 - 52,965,297 (+)NCBINCBI36hg18NCBI36
Build 341252,960,754 - 52,965,297NCBI
Celera1254,326,467 - 54,331,009 (+)NCBI
Cytogenetic Map12q13.13NCBI
HuRef1251,713,759 - 51,718,301 (+)NCBIHuRef
CHM1_11254,641,226 - 54,645,768 (+)NCBICHM1_1
Hnrnpa1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915103,148,370 - 103,155,125 (+)NCBIGRCm39mm39
GRCm39 Ensembl15103,148,859 - 103,155,119 (+)Ensembl
GRCm3815103,239,943 - 103,246,698 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15103,240,432 - 103,246,692 (+)EnsemblGRCm38mm10GRCm38
MGSCv3715103,070,863 - 103,075,386 (+)NCBIGRCm37mm9NCBIm37
MGSCv3615103,068,466 - 103,072,989 (+)NCBImm8
Celera15105,402,021 - 105,406,544 (+)NCBICelera
Cytogenetic Map15F3NCBI
cM Map1558.58NCBI
Hnrnpa1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27134,375,318 - 134,381,610 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7134,375,150 - 134,381,609 (+)Ensembl
Rnor_6.07144,865,302 - 144,871,592 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7144,865,608 - 144,871,585 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07142,647,071 - 142,652,967 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47142,150,229 - 142,154,520 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17142,230,417 - 142,234,709 (+)NCBI
Celera7130,801,278 - 130,805,569 (+)NCBICelera
Cytogenetic Map7q36NCBI
Hnrnpa1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554581,530,163 - 1,536,874 (+)NCBIChiLan1.0ChiLan1.0
HNRNPA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11235,182,164 - 35,188,651 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1235,184,943 - 35,188,443 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01234,456,900 - 34,463,317 (-)NCBIMhudiblu_PPA_v0panPan3
HNRNPA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1271,013,459 - 1,020,083 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl271,015,868 - 1,019,891 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2745,235,341 - 45,240,080 (+)NCBI
ROS_Cfam_1.0271,012,273 - 1,017,012 (-)NCBI
UMICH_Zoey_3.1271,031,242 - 1,035,976 (-)NCBI
UNSW_CanFamBas_1.0271,010,967 - 1,017,580 (-)NCBI
UU_Cfam_GSD_1.02745,639,146 - 45,643,882 (+)NCBI
Hnrnpa1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494561,677,106 - 61,683,541 (-)NCBI
SpeTri2.0NW_00493651211,481,017 - 11,487,737 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HNRNPA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl519,485,096 - 19,491,419 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1519,485,033 - 19,491,418 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2520,329,539 - 20,334,145 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HNRNPA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11150,397,173 - 50,403,192 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1150,396,888 - 50,400,802 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037195,638,486 - 195,645,432 (-)NCBIVero_WHO_p1.0
Hnrnpa1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249042,314,197 - 2,320,900 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D12S1994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371254,679,291 - 54,679,441UniSTSGRCh37
Build 361252,965,558 - 52,965,708RGDNCBI36
Celera1254,331,270 - 54,331,420RGD
Cytogenetic Map12q13.1UniSTS
HuRef1251,718,562 - 51,718,712UniSTS
Whitehead-YAC Contig Map12 UniSTS
SHGC-2501  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2111
Count of miRNA genes:876
Interacting mature miRNAs:1025
Transcripts:ENST00000330752, ENST00000340913, ENST00000546500, ENST00000547276, ENST00000547566, ENST00000547708, ENST00000547870, ENST00000548688, ENST00000550482, ENST00000550994, ENST00000551665, ENST00000551679, ENST00000551702, ENST00000551803
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 40 11 10 199 10 195 15 37 23 231 69 1 1
Medium 2392 2982 1712 612 1748 454 4160 2177 3671 395 1217 1539 170 1204 2788 3
Low 5 4 1 2 1 1 6 1 3 1 1
Below cutoff 1 2 3 1 1 3 18 1 9 2 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC078778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ277208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU501222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU541100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX425482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD705336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF541085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC358304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U00947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X73096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000330752   ⟹   ENSP00000333504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,775 - 54,284,881 (+)Ensembl
RefSeq Acc Id: ENST00000340913   ⟹   ENSP00000341826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,726 - 54,287,087 (+)Ensembl
RefSeq Acc Id: ENST00000546500   ⟹   ENSP00000448617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,193 - 54,287,087 (+)Ensembl
RefSeq Acc Id: ENST00000547276   ⟹   ENSP00000447260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,780 - 54,285,251 (+)Ensembl
RefSeq Acc Id: ENST00000547566   ⟹   ENSP00000449913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,748 - 54,287,088 (+)Ensembl
RefSeq Acc Id: ENST00000547708   ⟹   ENSP00000448229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,748 - 54,283,878 (+)Ensembl
RefSeq Acc Id: ENST00000547870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,756 - 54,282,606 (+)Ensembl
RefSeq Acc Id: ENST00000548688   ⟹   ENSP00000447782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,281,006 - 54,282,626 (+)Ensembl
RefSeq Acc Id: ENST00000550482   ⟹   ENSP00000446486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,704 - 54,285,842 (+)Ensembl
RefSeq Acc Id: ENST00000550994   ⟹   ENSP00000448917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,281,795 - 54,282,486 (+)Ensembl
RefSeq Acc Id: ENST00000551665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,285,907 - 54,287,051 (+)Ensembl
RefSeq Acc Id: ENST00000551679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,723 - 54,284,371 (+)Ensembl
RefSeq Acc Id: ENST00000551702   ⟹   ENSP00000448117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,763 - 54,282,486 (+)Ensembl
RefSeq Acc Id: ENST00000551803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,285,947 - 54,287,087 (+)Ensembl
RefSeq Acc Id: ENST00000676472   ⟹   ENSP00000503977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000676528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,285,808 - 54,286,732 (+)Ensembl
RefSeq Acc Id: ENST00000676572   ⟹   ENSP00000503865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000676661   ⟹   ENSP00000503829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,258 - 54,287,088 (+)Ensembl
RefSeq Acc Id: ENST00000676707   ⟹   ENSP00000504696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000676725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,698 - 54,285,238 (+)Ensembl
RefSeq Acc Id: ENST00000676794   ⟹   ENSP00000504819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,775 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000676842   ⟹   ENSP00000504036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,281,795 - 54,282,486 (+)Ensembl
RefSeq Acc Id: ENST00000676853   ⟹   ENSP00000503749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000676855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,286,247 - 54,286,732 (+)Ensembl
RefSeq Acc Id: ENST00000676886   ⟹   ENSP00000503468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000676925   ⟹   ENSP00000504344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,258 - 54,286,732 (+)Ensembl
RefSeq Acc Id: ENST00000676951   ⟹   ENSP00000502981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000677061   ⟹   ENSP00000503520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,258 - 54,287,088 (+)Ensembl
RefSeq Acc Id: ENST00000677072   ⟹   ENSP00000502915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,258 - 54,287,088 (+)Ensembl
RefSeq Acc Id: ENST00000677191   ⟹   ENSP00000503128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000677210   ⟹   ENSP00000503610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,663 - 54,285,842 (+)Ensembl
RefSeq Acc Id: ENST00000677220   ⟹   ENSP00000502987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,808 - 54,287,087 (+)Ensembl
RefSeq Acc Id: ENST00000677224   ⟹   ENSP00000502876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000677249   ⟹   ENSP00000503649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,691 - 54,285,745 (+)Ensembl
RefSeq Acc Id: ENST00000677279   ⟹   ENSP00000503602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000677291   ⟹   ENSP00000504458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,394 - 54,282,874 (+)Ensembl
RefSeq Acc Id: ENST00000677375   ⟹   ENSP00000503651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,663 - 54,285,229 (+)Ensembl
RefSeq Acc Id: ENST00000677385   ⟹   ENSP00000502985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,663 - 54,285,843 (+)Ensembl
RefSeq Acc Id: ENST00000677488   ⟹   ENSP00000504431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,283,234 (+)Ensembl
RefSeq Acc Id: ENST00000677518   ⟹   ENSP00000503537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,812 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000677539   ⟹   ENSP00000504506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000677636   ⟹   ENSP00000503254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,394 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000677645   ⟹   ENSP00000504753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,394 - 54,283,234 (+)Ensembl
RefSeq Acc Id: ENST00000677666   ⟹   ENSP00000504664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,258 - 54,287,088 (+)Ensembl
RefSeq Acc Id: ENST00000677778   ⟹   ENSP00000504642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,287,087 (+)Ensembl
RefSeq Acc Id: ENST00000677832   ⟹   ENSP00000503861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,258 - 54,286,732 (+)Ensembl
RefSeq Acc Id: ENST00000677840   ⟹   ENSP00000503273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,812 - 54,287,087 (+)Ensembl
RefSeq Acc Id: ENST00000677847   ⟹   ENSP00000503848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,812 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000677945   ⟹   ENSP00000503056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,573 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678077   ⟹   ENSP00000504814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,872 - 54,285,239 (+)Ensembl
RefSeq Acc Id: ENST00000678093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,258 - 54,284,965 (+)Ensembl
RefSeq Acc Id: ENST00000678103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,286,247 - 54,287,087 (+)Ensembl
RefSeq Acc Id: ENST00000678199   ⟹   ENSP00000504143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,258 - 54,286,732 (+)Ensembl
RefSeq Acc Id: ENST00000678212   ⟹   ENSP00000503276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000678279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678347   ⟹   ENSP00000504511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,573 - 54,283,234 (+)Ensembl
RefSeq Acc Id: ENST00000678365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,775 - 54,286,732 (+)Ensembl
RefSeq Acc Id: ENST00000678412   ⟹   ENSP00000503562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000678418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,698 - 54,285,237 (+)Ensembl
RefSeq Acc Id: ENST00000678424   ⟹   ENSP00000503030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678448   ⟹   ENSP00000503619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,281,795 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000678456   ⟹   ENSP00000504368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000678513   ⟹   ENSP00000503162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678581   ⟹   ENSP00000504251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678597   ⟹   ENSP00000504089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,573 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678611   ⟹   ENSP00000504004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,709 - 54,286,732 (+)Ensembl
RefSeq Acc Id: ENST00000678690   ⟹   ENSP00000503229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,780 - 54,281,941 (+)Ensembl
RefSeq Acc Id: ENST00000678873   ⟹   ENSP00000503516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,573 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678876   ⟹   ENSP00000503756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,573 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,286,837 - 54,287,087 (+)Ensembl
RefSeq Acc Id: ENST00000678919   ⟹   ENSP00000504604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,780 - 54,282,300 (+)Ensembl
RefSeq Acc Id: ENST00000678934   ⟹   ENSP00000504850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,573 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000678947   ⟹   ENSP00000503733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,283,234 (+)Ensembl
RefSeq Acc Id: ENST00000678970   ⟹   ENSP00000503825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000679026   ⟹   ENSP00000504539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,812 - 54,284,669 (+)Ensembl
RefSeq Acc Id: ENST00000679063   ⟹   ENSP00000504683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,283,967 (+)Ensembl
RefSeq Acc Id: ENST00000679079   ⟹   ENSP00000504545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,283,079 - 54,284,669 (+)Ensembl
RefSeq Acc Id: ENST00000679101   ⟹   ENSP00000503166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,726 - 54,281,941 (+)Ensembl
RefSeq Acc Id: ENST00000679228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,280,749 - 54,285,745 (+)Ensembl
RefSeq Acc Id: ENST00000679251   ⟹   ENSP00000502904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,284,258 - 54,286,732 (+)Ensembl
RefSeq Acc Id: ENST00000679273   ⟹   ENSP00000504626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,281,795 - 54,284,317 (+)Ensembl
RefSeq Acc Id: ENST00000679319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,283,695 (+)Ensembl
RefSeq Acc Id: ENST00000679344   ⟹   ENSP00000504058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1254,282,800 - 54,284,317 (+)Ensembl
RefSeq Acc Id: NM_002136   ⟹   NP_002127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381254,280,726 - 54,287,087 (+)NCBI
GRCh371254,674,480 - 54,680,871 (+)NCBI
Build 361252,960,755 - 52,965,297 (+)NCBI Archive
HuRef1251,713,759 - 51,718,301 (+)ENTREZGENE
CHM1_11254,641,212 - 54,645,768 (+)NCBI
Sequence:
RefSeq Acc Id: NM_031157   ⟹   NP_112420
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381254,280,726 - 54,287,087 (+)NCBI
GRCh371254,674,480 - 54,680,871 (+)NCBI
Build 361252,960,755 - 52,965,297 (+)NCBI Archive
HuRef1251,713,759 - 51,718,301 (+)ENTREZGENE
CHM1_11254,641,212 - 54,645,768 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135167
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381254,280,726 - 54,287,087 (+)NCBI
CHM1_11254,641,212 - 54,647,610 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002127 (Get FASTA)   NCBI Sequence Viewer  
  NP_112420 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH02355 (Get FASTA)   NCBI Sequence Viewer  
  AAH04945 (Get FASTA)   NCBI Sequence Viewer  
  AAH09600 (Get FASTA)   NCBI Sequence Viewer  
  AAH12158 (Get FASTA)   NCBI Sequence Viewer  
  AAH33714 (Get FASTA)   NCBI Sequence Viewer  
  AAH52296 (Get FASTA)   NCBI Sequence Viewer  
  AAH70315 (Get FASTA)   NCBI Sequence Viewer  
  AAH71945 (Get FASTA)   NCBI Sequence Viewer  
  AAH73162 (Get FASTA)   NCBI Sequence Viewer  
  AAH74502 (Get FASTA)   NCBI Sequence Viewer  
  AAI03708 (Get FASTA)   NCBI Sequence Viewer  
  AAI04237 (Get FASTA)   NCBI Sequence Viewer  
  AAI04238 (Get FASTA)   NCBI Sequence Viewer  
  AAI21134 (Get FASTA)   NCBI Sequence Viewer  
  ADO22407 (Get FASTA)   NCBI Sequence Viewer  
  BAF83802 (Get FASTA)   NCBI Sequence Viewer  
  BAG60447 (Get FASTA)   NCBI Sequence Viewer  
  BAG64377 (Get FASTA)   NCBI Sequence Viewer  
  CAA27874 (Get FASTA)   NCBI Sequence Viewer  
  CAA29922 (Get FASTA)   NCBI Sequence Viewer  
  CAA31191 (Get FASTA)   NCBI Sequence Viewer  
  CAA56072 (Get FASTA)   NCBI Sequence Viewer  
  EAW96761 (Get FASTA)   NCBI Sequence Viewer  
  EAW96762 (Get FASTA)   NCBI Sequence Viewer  
  EAW96763 (Get FASTA)   NCBI Sequence Viewer  
  EAW96764 (Get FASTA)   NCBI Sequence Viewer  
  EAW96765 (Get FASTA)   NCBI Sequence Viewer  
  EAW96766 (Get FASTA)   NCBI Sequence Viewer  
  EAW96767 (Get FASTA)   NCBI Sequence Viewer  
  EAW96768 (Get FASTA)   NCBI Sequence Viewer  
  EAW96769 (Get FASTA)   NCBI Sequence Viewer  
  EAW96770 (Get FASTA)   NCBI Sequence Viewer  
  P09651 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_112420   ⟸   NM_031157
- Peptide Label: isoform b
- UniProtKB: P09651 (UniProtKB/Swiss-Prot),   A0A024RAZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002127   ⟸   NM_002136
- Peptide Label: isoform a
- UniProtKB: P09651 (UniProtKB/Swiss-Prot),   A0A024RB53 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000448617   ⟸   ENST00000546500
RefSeq Acc Id: ENSP00000449913   ⟸   ENST00000547566
RefSeq Acc Id: ENSP00000447260   ⟸   ENST00000547276
RefSeq Acc Id: ENSP00000448229   ⟸   ENST00000547708
RefSeq Acc Id: ENSP00000447782   ⟸   ENST00000548688
RefSeq Acc Id: ENSP00000448917   ⟸   ENST00000550994
RefSeq Acc Id: ENSP00000446486   ⟸   ENST00000550482
RefSeq Acc Id: ENSP00000341826   ⟸   ENST00000340913
RefSeq Acc Id: ENSP00000448117   ⟸   ENST00000551702
RefSeq Acc Id: ENSP00000333504   ⟸   ENST00000330752
RefSeq Acc Id: ENSP00000502981   ⟸   ENST00000676951
RefSeq Acc Id: ENSP00000504344   ⟸   ENST00000676925
RefSeq Acc Id: ENSP00000503468   ⟸   ENST00000676886
RefSeq Acc Id: ENSP00000504036   ⟸   ENST00000676842
RefSeq Acc Id: ENSP00000503749   ⟸   ENST00000676853
RefSeq Acc Id: ENSP00000504819   ⟸   ENST00000676794
RefSeq Acc Id: ENSP00000504696   ⟸   ENST00000676707
RefSeq Acc Id: ENSP00000503829   ⟸   ENST00000676661
RefSeq Acc Id: ENSP00000503865   ⟸   ENST00000676572
RefSeq Acc Id: ENSP00000503977   ⟸   ENST00000676472
RefSeq Acc Id: ENSP00000503128   ⟸   ENST00000677191
RefSeq Acc Id: ENSP00000503520   ⟸   ENST00000677061
RefSeq Acc Id: ENSP00000502915   ⟸   ENST00000677072
RefSeq Acc Id: ENSP00000503537   ⟸   ENST00000677518
RefSeq Acc Id: ENSP00000504506   ⟸   ENST00000677539
RefSeq Acc Id: ENSP00000504431   ⟸   ENST00000677488
RefSeq Acc Id: ENSP00000503651   ⟸   ENST00000677375
RefSeq Acc Id: ENSP00000502985   ⟸   ENST00000677385
RefSeq Acc Id: ENSP00000504458   ⟸   ENST00000677291
RefSeq Acc Id: ENSP00000503649   ⟸   ENST00000677249
RefSeq Acc Id: ENSP00000503602   ⟸   ENST00000677279
RefSeq Acc Id: ENSP00000503610   ⟸   ENST00000677210
RefSeq Acc Id: ENSP00000502987   ⟸   ENST00000677220
RefSeq Acc Id: ENSP00000502876   ⟸   ENST00000677224
RefSeq Acc Id: ENSP00000503056   ⟸   ENST00000677945
RefSeq Acc Id: ENSP00000503273   ⟸   ENST00000677840
RefSeq Acc Id: ENSP00000503848   ⟸   ENST00000677847
RefSeq Acc Id: ENSP00000503861   ⟸   ENST00000677832
RefSeq Acc Id: ENSP00000504642   ⟸   ENST00000677778
RefSeq Acc Id: ENSP00000503254   ⟸   ENST00000677636
RefSeq Acc Id: ENSP00000504753   ⟸   ENST00000677645
RefSeq Acc Id: ENSP00000504664   ⟸   ENST00000677666
RefSeq Acc Id: ENSP00000504814   ⟸   ENST00000678077
RefSeq Acc Id: ENSP00000504368   ⟸   ENST00000678456
RefSeq Acc Id: ENSP00000503030   ⟸   ENST00000678424
RefSeq Acc Id: ENSP00000503562   ⟸   ENST00000678412
RefSeq Acc Id: ENSP00000503619   ⟸   ENST00000678448
RefSeq Acc Id: ENSP00000504511   ⟸   ENST00000678347
RefSeq Acc Id: ENSP00000503276   ⟸   ENST00000678212
RefSeq Acc Id: ENSP00000504143   ⟸   ENST00000678199
RefSeq Acc Id: ENSP00000503516   ⟸   ENST00000678873
RefSeq Acc Id: ENSP00000503756   ⟸   ENST00000678876
RefSeq Acc Id: ENSP00000503229   ⟸   ENST00000678690
RefSeq Acc Id: ENSP00000504004   ⟸   ENST00000678611
RefSeq Acc Id: ENSP00000504251   ⟸   ENST00000678581
RefSeq Acc Id: ENSP00000504089   ⟸   ENST00000678597
RefSeq Acc Id: ENSP00000503162   ⟸   ENST00000678513
RefSeq Acc Id: ENSP00000503733   ⟸   ENST00000678947
RefSeq Acc Id: ENSP00000504850   ⟸   ENST00000678934
RefSeq Acc Id: ENSP00000504604   ⟸   ENST00000678919
RefSeq Acc Id: ENSP00000503825   ⟸   ENST00000678970
RefSeq Acc Id: ENSP00000504058   ⟸   ENST00000679344
RefSeq Acc Id: ENSP00000502904   ⟸   ENST00000679251
RefSeq Acc Id: ENSP00000504626   ⟸   ENST00000679273
RefSeq Acc Id: ENSP00000503166   ⟸   ENST00000679101
RefSeq Acc Id: ENSP00000504545   ⟸   ENST00000679079
RefSeq Acc Id: ENSP00000504539   ⟸   ENST00000679026
RefSeq Acc Id: ENSP00000504683   ⟸   ENST00000679063
Protein Domains
RRM

Promoters
RGD ID:6790137
Promoter ID:HG_KWN:15802
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:ENST00000340913,   NM_002136,   NM_031157,   NR_002944,   UC001SFN.1,   UC001SFO.2,   UC001SFP.1,   UC009ZNG.1,   UC009ZNH.1,   UC009ZNI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361252,959,756 - 52,960,907 (+)MPROMDB
RGD ID:6852718
Promoter ID:EP74172
Type:initiation region
Name:HS_HNRPA1
Description:Heterogeneous nuclear ribonucleoprotein A1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361252,960,798 - 52,960,858EPD
RGD ID:6790107
Promoter ID:HG_KWN:15803
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:UC009ZNJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361252,961,311 - 52,962,262 (+)MPROMDB
RGD ID:6810290
Promoter ID:HG_ACW:17179
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:HNRPA1.NAPR07,   HNRPA1.PAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361252,962,526 - 52,963,192 (+)MPROMDB
RGD ID:7224235
Promoter ID:EPDNEW_H17863
Type:initiation region
Name:HNRNPA1_1
Description:heterogeneous nuclear ribonucleoprotein A1
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
GRCh381254,280,747 - 54,280,807EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002136.2(HNRNPA1):c.636G>A (p.Gly212=) single nucleotide variant Malignant melanoma [RCV000062547] Chr12:54282625 [GRCh38]
Chr12:54676409 [GRCh37]
Chr12:52962676 [NCBI36]
Chr12:12q13.13
not provided
NM_002136.2(HNRNPA1):c.924C>T (p.Ser308=) single nucleotide variant Malignant melanoma [RCV000062548] Chr12:54284274 [GRCh38]
Chr12:54678058 [GRCh37]
Chr12:52964325 [NCBI36]
Chr12:12q13.13
not provided
NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val) single nucleotide variant Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 [RCV000055649] Chr12:54283845 [GRCh38]
Chr12:54677629 [GRCh37]
Chr12:12q13.13
pathogenic
NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn) single nucleotide variant Amyotrophic lateral sclerosis 20 [RCV000055650] Chr12:54283844 [GRCh38]
Chr12:54677628 [GRCh37]
Chr12:12q13.13
pathogenic
NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser) single nucleotide variant Amyotrophic lateral sclerosis 20 [RCV000055651] Chr12:54283860 [GRCh38]
Chr12:54677644 [GRCh37]
Chr12:12q13.13
pathogenic
NM_031157.4(HNRNPA1):c.911G>A (p.Ser304Asn) single nucleotide variant Relapsing remitting multiple sclerosis [RCV000122439] Chr12:54283815 [GRCh38]
Chr12:54677599 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_031157.4(HNRNPA1):c.931A>G (p.Ser311Gly) single nucleotide variant Relapsing remitting multiple sclerosis [RCV000122440] Chr12:54283835 [GRCh38]
Chr12:54677619 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_031157.4(HNRNPA1):c.943T>C (p.Phe315Leu) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122441] Chr12:54283847 [GRCh38]
Chr12:54677631 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.949A>G (p.Asn317Asp) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122442] Chr12:54283853 [GRCh38]
Chr12:54677637 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.973T>C (p.Phe325Leu) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122443] Chr12:54283877 [GRCh38]
Chr12:54677661 [GRCh37]
Chr12:12q13.13
pathogenic
NM_031157.4(HNRNPA1):c.973T>G (p.Phe325Val) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122444] Chr12:54283877 [GRCh38]
Chr12:54677661 [GRCh37]
Chr12:12q13.13
pathogenic
NM_031157.4(HNRNPA1):c.979C>T (p.Pro327Ser) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122445] Chr12:54283883 [GRCh38]
Chr12:54677667 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.982A>C (p.Met328Leu) single nucleotide variant Relapsing remitting multiple sclerosis [RCV000122446] Chr12:54283886 [GRCh38]
Chr12:54677670 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.987G>T (p.Lys329Asn) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122447] Chr12:54283891 [GRCh38]
Chr12:54677675 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.995A>G (p.Asn332Ser) single nucleotide variant Relapsing remitting multiple sclerosis [RCV000122448] Chr12:54283899 [GRCh38]
Chr12:54677683 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.997T>C (p.Phe333Leu) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122449] Chr12:54283901 [GRCh38]
Chr12:54677685 [GRCh37]
Chr12:12q13.13
pathogenic
NM_031157.4(HNRNPA1):c.1006A>G (p.Arg336Gly) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122450] Chr12:54283910 [GRCh38]
Chr12:54677694 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.1009A>G (p.Ser337Gly) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122451] Chr12:54283913 [GRCh38]
Chr12:54677697 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.1040A>G (p.Tyr347Cys) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122452] Chr12:54283944 [GRCh38]
Chr12:54677728 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.1042T>C (p.Phe348Leu) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122453] Chr12:54283946 [GRCh38]
Chr12:54677730 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.1052C>T (p.Pro351Leu) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122454] Chr12:54283956 [GRCh38]
Chr12:54677740 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.1054C>T (p.Arg352Ter) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122455]|not provided [RCV000761832] Chr12:54283958 [GRCh38]
Chr12:54677742 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_031157.4(HNRNPA1):c.1057A>G (p.Asn353Asp) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122456] Chr12:54283961 [GRCh38]
Chr12:54677745 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.1058A>G (p.Asn353Ser) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122457] Chr12:54283962 [GRCh38]
Chr12:54677746 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.1078T>G (p.Ser360Ala) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122458] Chr12:54284272 [GRCh38]
Chr12:54678056 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.1093A>G (p.Ser365Gly) single nucleotide variant Relapsing remitting multiple sclerosis [RCV000122459] Chr12:54284287 [GRCh38]
Chr12:54678071 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.1096T>C (p.Tyr366His) single nucleotide variant Relapsing remitting multiple sclerosis [RCV000122460] Chr12:54284290 [GRCh38]
Chr12:54678074 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.1097A>G (p.Tyr366Cys) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122461] Chr12:54284291 [GRCh38]
Chr12:54678075 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.1106G>A (p.Gly369Asp) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122462] Chr12:54284300 [GRCh38]
Chr12:54678084 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.1111A>G (p.Arg371Gly) single nucleotide variant Relapsing remitting multiple sclerosis [RCV000122463] Chr12:54284305 [GRCh38]
Chr12:54678089 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.1114T>C (p.Phe372Leu) single nucleotide variant Chronic progressive multiple sclerosis [RCV000122464] Chr12:54284308 [GRCh38]
Chr12:54678092 [GRCh37]
Chr12:12q13.13
likely benign
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 copy number gain See cases [RCV000141435] Chr12:53420606..56202942 [GRCh38]
Chr12:53814390..56596726 [GRCh37]
Chr12:52100657..54882993 [NCBI36]
Chr12:12q13.13-13.3
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_031157.4(HNRNPA1):c.133-17A>G single nucleotide variant not provided [RCV001580134]|not specified [RCV000241650] Chr12:54281778 [GRCh38]
Chr12:54675562 [GRCh37]
Chr12:12q13.13
benign|likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_031157.4(HNRNPA1):c.876C>G (p.Asn292Lys) single nucleotide variant not provided [RCV000498372] Chr12:54283203 [GRCh38]
Chr12:54676987 [GRCh37]
Chr12:12q13.13
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
null single nucleotide variant not provided [RCV001691506] Chr12:54281329 [GRCh38]
Chr12:54675113 [GRCh37]
Chr12:12q13.13
benign
NM_031157.4(HNRNPA1):c.879AGGCGG[1] (p.Gly296_Gly297del) microsatellite not provided [RCV000878948] Chr12:54283203..54283208 [GRCh38]
Chr12:54676987..54676992 [GRCh37]
Chr12:12q13.13
benign
NM_031157.4(HNRNPA1):c.631G>A (p.Gly211Ser) single nucleotide variant not provided [RCV000877652] Chr12:54282620 [GRCh38]
Chr12:54676404 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.15+7T>C single nucleotide variant not provided [RCV000875646] Chr12:54280829 [GRCh38]
Chr12:54674613 [GRCh37]
Chr12:12q13.13
benign
NM_031157.4(HNRNPA1):c.630C>T (p.Phe210=) single nucleotide variant not provided [RCV000876695] Chr12:54282619 [GRCh38]
Chr12:54676403 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.486T>C (p.Ile162=) single nucleotide variant not provided [RCV000953781] Chr12:54282296 [GRCh38]
Chr12:54676080 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.597T>C (p.Ser199=) single nucleotide variant not provided [RCV000918943] Chr12:54282586 [GRCh38]
Chr12:54676370 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.90G>A (p.Leu30=) single nucleotide variant not provided [RCV000980545] Chr12:54281460 [GRCh38]
Chr12:54675244 [GRCh37]
Chr12:12q13.13
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787381] Chr12:53784698..54741363 [GRCh37]
Chr12:12q13.13
pathogenic
NM_031157.4(HNRNPA1):c.1018C>G (p.Pro340Ala) single nucleotide variant Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 [RCV000789008] Chr12:54283922 [GRCh38]
Chr12:54677706 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_031157.4(HNRNPA1):c.512A>T (p.Asn171Ile) single nucleotide variant not provided [RCV000994932] Chr12:54282415 [GRCh38]
Chr12:54676199 [GRCh37]
Chr12:12q13.13
uncertain significance
null single nucleotide variant not provided [RCV001637573] Chr12:54280451 [GRCh38]
Chr12:54674235 [GRCh37]
Chr12:12q13.13
benign
NM_031157.4(HNRNPA1):c.546A>G (p.Ser182=) single nucleotide variant not provided [RCV000873911] Chr12:54282449 [GRCh38]
Chr12:54676233 [GRCh37]
Chr12:12q13.13
benign
NM_031157.4(HNRNPA1):c.24A>G (p.Lys8=) single nucleotide variant not provided [RCV000972043] Chr12:54281394 [GRCh38]
Chr12:54675178 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.639T>C (p.Asn213=) single nucleotide variant not provided [RCV000875276] Chr12:54282628 [GRCh38]
Chr12:54676412 [GRCh37]
Chr12:12q13.13
likely benign
null single nucleotide variant not provided [RCV001615670] Chr12:54284196 [GRCh38]
Chr12:54677980 [GRCh37]
Chr12:12q13.13
benign
NM_031157.4(HNRNPA1):c.491-3dup duplication not provided [RCV001579396] Chr12:54282381..54282382 [GRCh38]
Chr12:54676165..54676166 [GRCh37]
Chr12:12q13.13
likely benign
null single nucleotide variant not provided [RCV001708489] Chr12:54282964 [GRCh38]
Chr12:54676748 [GRCh37]
Chr12:12q13.13
benign
NM_031157.4(HNRNPA1):c.507T>G (p.Thr169=) single nucleotide variant not provided [RCV001200087] Chr12:54282410 [GRCh38]
Chr12:54676194 [GRCh37]
Chr12:12q13.13
likely benign
NM_031157.4(HNRNPA1):c.1063+15_*5-68del deletion HNRNPA1-related multisystem proteinopathy [RCV001090144] Chr12:54283980..54284479 [GRCh38]
Chr12:54677764..54678263 [GRCh37]
Chr12:12q13.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5031 AgrOrtholog
COSMIC HNRNPA1 COSMIC
Ensembl Genes ENSG00000135486 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000333504 UniProtKB/TrEMBL
  ENSP00000341826 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000446486 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000447260 UniProtKB/Swiss-Prot
  ENSP00000447782 UniProtKB/TrEMBL
  ENSP00000448117 UniProtKB/TrEMBL
  ENSP00000448229 UniProtKB/TrEMBL
  ENSP00000448617 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000448917 UniProtKB/TrEMBL
  ENSP00000449913 UniProtKB/Swiss-Prot
  ENSP00000502876 UniProtKB/TrEMBL
  ENSP00000502904 UniProtKB/TrEMBL
  ENSP00000502915 UniProtKB/TrEMBL
  ENSP00000502981 UniProtKB/TrEMBL
  ENSP00000502985 UniProtKB/TrEMBL
  ENSP00000502987 UniProtKB/TrEMBL
  ENSP00000503030 UniProtKB/TrEMBL
  ENSP00000503056 UniProtKB/TrEMBL
  ENSP00000503128 UniProtKB/TrEMBL
  ENSP00000503162 UniProtKB/TrEMBL
  ENSP00000503166 UniProtKB/TrEMBL
  ENSP00000503229 UniProtKB/TrEMBL
  ENSP00000503254 UniProtKB/TrEMBL
  ENSP00000503273 UniProtKB/TrEMBL
  ENSP00000503276 UniProtKB/TrEMBL
  ENSP00000503468 UniProtKB/TrEMBL
  ENSP00000503516 UniProtKB/TrEMBL
  ENSP00000503520 UniProtKB/TrEMBL
  ENSP00000503537 UniProtKB/TrEMBL
  ENSP00000503562 UniProtKB/TrEMBL
  ENSP00000503602 UniProtKB/TrEMBL
  ENSP00000503610 UniProtKB/Swiss-Prot
  ENSP00000503619 UniProtKB/TrEMBL
  ENSP00000503649 UniProtKB/TrEMBL
  ENSP00000503651 UniProtKB/TrEMBL
  ENSP00000503733 UniProtKB/TrEMBL
  ENSP00000503749 UniProtKB/TrEMBL
  ENSP00000503756 UniProtKB/TrEMBL
  ENSP00000503825 UniProtKB/TrEMBL
  ENSP00000503829 UniProtKB/TrEMBL
  ENSP00000503848 UniProtKB/TrEMBL
  ENSP00000503861 UniProtKB/TrEMBL
  ENSP00000503865 UniProtKB/TrEMBL
  ENSP00000503977 UniProtKB/TrEMBL
  ENSP00000504004 UniProtKB/TrEMBL
  ENSP00000504036 UniProtKB/TrEMBL
  ENSP00000504058 UniProtKB/TrEMBL
  ENSP00000504089 UniProtKB/TrEMBL
  ENSP00000504143 UniProtKB/TrEMBL
  ENSP00000504251 UniProtKB/TrEMBL
  ENSP00000504344 UniProtKB/TrEMBL
  ENSP00000504368 UniProtKB/TrEMBL
  ENSP00000504431 UniProtKB/TrEMBL
  ENSP00000504458 UniProtKB/TrEMBL
  ENSP00000504506 UniProtKB/TrEMBL
  ENSP00000504511 UniProtKB/TrEMBL
  ENSP00000504539 UniProtKB/TrEMBL
  ENSP00000504545 UniProtKB/TrEMBL
  ENSP00000504604 UniProtKB/TrEMBL
  ENSP00000504626 UniProtKB/TrEMBL
  ENSP00000504642 UniProtKB/TrEMBL
  ENSP00000504664 UniProtKB/TrEMBL
  ENSP00000504683 UniProtKB/TrEMBL
  ENSP00000504696 UniProtKB/TrEMBL
  ENSP00000504753 UniProtKB/TrEMBL
  ENSP00000504814 UniProtKB/TrEMBL
  ENSP00000504819 UniProtKB/TrEMBL
  ENSP00000504850 UniProtKB/TrEMBL
Ensembl Transcript ENST00000330752 UniProtKB/TrEMBL
  ENST00000340913 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000546500 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000547276 UniProtKB/Swiss-Prot
  ENST00000547566 UniProtKB/Swiss-Prot
  ENST00000547708 UniProtKB/TrEMBL
  ENST00000548688 UniProtKB/TrEMBL
  ENST00000550482 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000550994 UniProtKB/TrEMBL
  ENST00000551702 UniProtKB/TrEMBL
  ENST00000676472 UniProtKB/TrEMBL
  ENST00000676572 UniProtKB/TrEMBL
  ENST00000676661 UniProtKB/TrEMBL
  ENST00000676707 UniProtKB/TrEMBL
  ENST00000676794 UniProtKB/TrEMBL
  ENST00000676842 UniProtKB/TrEMBL
  ENST00000676853 UniProtKB/TrEMBL
  ENST00000676886 UniProtKB/TrEMBL
  ENST00000676925 UniProtKB/TrEMBL
  ENST00000676951 UniProtKB/TrEMBL
  ENST00000677061 UniProtKB/TrEMBL
  ENST00000677072 UniProtKB/TrEMBL
  ENST00000677191 UniProtKB/TrEMBL
  ENST00000677210 UniProtKB/Swiss-Prot
  ENST00000677220 UniProtKB/TrEMBL
  ENST00000677224 UniProtKB/TrEMBL
  ENST00000677249 UniProtKB/TrEMBL
  ENST00000677279 UniProtKB/TrEMBL
  ENST00000677291 UniProtKB/TrEMBL
  ENST00000677375 UniProtKB/TrEMBL
  ENST00000677385 UniProtKB/TrEMBL
  ENST00000677488 UniProtKB/TrEMBL
  ENST00000677518 UniProtKB/TrEMBL
  ENST00000677539 UniProtKB/TrEMBL
  ENST00000677636 UniProtKB/TrEMBL
  ENST00000677645 UniProtKB/TrEMBL
  ENST00000677666 UniProtKB/TrEMBL
  ENST00000677778 UniProtKB/TrEMBL
  ENST00000677832 UniProtKB/TrEMBL
  ENST00000677840 UniProtKB/TrEMBL
  ENST00000677847 UniProtKB/TrEMBL
  ENST00000677945 UniProtKB/TrEMBL
  ENST00000678077 UniProtKB/TrEMBL
  ENST00000678199 UniProtKB/TrEMBL
  ENST00000678212 UniProtKB/TrEMBL
  ENST00000678347 UniProtKB/TrEMBL
  ENST00000678412 UniProtKB/TrEMBL
  ENST00000678424 UniProtKB/TrEMBL
  ENST00000678448 UniProtKB/TrEMBL
  ENST00000678456 UniProtKB/TrEMBL
  ENST00000678513 UniProtKB/TrEMBL
  ENST00000678581 UniProtKB/TrEMBL
  ENST00000678597 UniProtKB/TrEMBL
  ENST00000678611 UniProtKB/TrEMBL
  ENST00000678690 UniProtKB/TrEMBL
  ENST00000678873 UniProtKB/TrEMBL
  ENST00000678876 UniProtKB/TrEMBL
  ENST00000678919 UniProtKB/TrEMBL
  ENST00000678934 UniProtKB/TrEMBL
  ENST00000678947 UniProtKB/TrEMBL
  ENST00000678970 UniProtKB/TrEMBL
  ENST00000679026 UniProtKB/TrEMBL
  ENST00000679063 UniProtKB/TrEMBL
  ENST00000679079 UniProtKB/TrEMBL
  ENST00000679101 UniProtKB/TrEMBL
  ENST00000679251 UniProtKB/TrEMBL
  ENST00000679273 UniProtKB/TrEMBL
  ENST00000679344 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135486 GTEx
HGNC ID HGNC:5031 ENTREZGENE
Human Proteome Map HNRNPA1 Human Proteome Map
InterPro HnRNPA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hnRNPA1_RRM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hnRNPA1_RRM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3178 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3178 ENTREZGENE
OMIM 164017 OMIM
  615424 OMIM
  615426 OMIM
Pfam HnRNPA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162391113 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAZ7 ENTREZGENE, UniProtKB/TrEMBL
  A0A024RB53 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V2F1_HUMAN UniProtKB/TrEMBL
  A0A7I2V2L6_HUMAN UniProtKB/TrEMBL
  A0A7I2V2M7_HUMAN UniProtKB/TrEMBL
  A0A7I2V2Q7_HUMAN UniProtKB/TrEMBL
  A0A7I2V2R4_HUMAN UniProtKB/TrEMBL
  A0A7I2V2W8_HUMAN UniProtKB/TrEMBL
  A0A7I2V2X1_HUMAN UniProtKB/TrEMBL
  A0A7I2V2Z4_HUMAN UniProtKB/TrEMBL
  A0A7I2V334_HUMAN UniProtKB/TrEMBL
  A0A7I2V360_HUMAN UniProtKB/TrEMBL
  A0A7I2V3C7_HUMAN UniProtKB/TrEMBL
  A0A7I2V3F4_HUMAN UniProtKB/TrEMBL
  A0A7I2V3J5_HUMAN UniProtKB/TrEMBL
  A0A7I2V3K5_HUMAN UniProtKB/TrEMBL
  A0A7I2V3R8_HUMAN UniProtKB/TrEMBL
  A0A7I2V3S1_HUMAN UniProtKB/TrEMBL
  A0A7I2V3U8_HUMAN UniProtKB/TrEMBL
  A0A7I2V3U9_HUMAN UniProtKB/TrEMBL
  A0A7I2V3W0_HUMAN UniProtKB/TrEMBL
  A0A7I2V3W4_HUMAN UniProtKB/TrEMBL
  A0A7I2V434_HUMAN UniProtKB/TrEMBL
  A0A7I2V453_HUMAN UniProtKB/TrEMBL
  A0A7I2V459_HUMAN UniProtKB/TrEMBL
  A0A7I2V497_HUMAN UniProtKB/TrEMBL
  A0A7I2V4E2_HUMAN UniProtKB/TrEMBL
  A0A7I2V4F8_HUMAN UniProtKB/TrEMBL
  A0A7I2V4M0_HUMAN UniProtKB/TrEMBL
  A0A7I2V4P7_HUMAN UniProtKB/TrEMBL
  A0A7I2V4R7_HUMAN UniProtKB/TrEMBL
  A0A7I2V520_HUMAN UniProtKB/TrEMBL
  A0A7I2V595_HUMAN UniProtKB/TrEMBL
  A0A7I2V5H0_HUMAN UniProtKB/TrEMBL
  A0A7I2V5L7_HUMAN UniProtKB/TrEMBL
  A0A7I2V5N7_HUMAN UniProtKB/TrEMBL
  A0A7I2V5P1_HUMAN UniProtKB/TrEMBL
  A0A7I2V5T1_HUMAN UniProtKB/TrEMBL
  A0A7I2V5U9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5W8_HUMAN UniProtKB/TrEMBL
  A0A7I2V661_HUMAN UniProtKB/TrEMBL
  A0A7I2V666_HUMAN UniProtKB/TrEMBL
  A0A7I2YQ85_HUMAN UniProtKB/TrEMBL
  A0A7I2YQJ2_HUMAN UniProtKB/TrEMBL
  A0A7I2YQR6_HUMAN UniProtKB/TrEMBL
  A0A7I2YQU4_HUMAN UniProtKB/TrEMBL
  A0A7I2YQV3_HUMAN UniProtKB/TrEMBL
  A0A7I2YQV6_HUMAN UniProtKB/TrEMBL
  A0A7I2YQW0_HUMAN UniProtKB/TrEMBL
  A0A7I2YQX9_HUMAN UniProtKB/TrEMBL
  A0A7I2YQY2_HUMAN UniProtKB/TrEMBL
  F8VTQ5_HUMAN UniProtKB/TrEMBL
  F8VYN5_HUMAN UniProtKB/TrEMBL
  F8VZ49_HUMAN UniProtKB/TrEMBL
  F8W646_HUMAN UniProtKB/TrEMBL
  F8W6I7_HUMAN UniProtKB/TrEMBL
  H0YH80_HUMAN UniProtKB/TrEMBL
  P09651 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K4Z8 UniProtKB/Swiss-Prot
  Q3MIB7 UniProtKB/Swiss-Prot
  Q6PJZ7 UniProtKB/Swiss-Prot