HNRNPK (heterogeneous nuclear ribonucleoprotein K) - Rat Genome Database

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Gene: HNRNPK (heterogeneous nuclear ribonucleoprotein K) Homo sapiens
Analyze
Symbol: HNRNPK
Name: heterogeneous nuclear ribonucleoprotein K
RGD ID: 733485
HGNC Page HGNC:5044
Description: Enables identical protein binding activity and protein domain specific binding activity. Involved in negative regulation of DNA-templated transcription; random inactivation of X chromosome; and regulatory ncRNA-mediated heterochromatin formation. Acts upstream of or within negative regulation of apoptotic process. Located in chromatin; cytoplasm; and nucleoplasm. Part of catalytic step 2 spliceosome. Implicated in Raynaud disease. Biomarker of colorectal cancer and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AUKS; CSBP; dC-stretch binding protein; FLJ41122; hnRNP K; HNRPK; transformation up-regulated nuclear protein; transformation upregulated nuclear protein; TUNP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: HNRNPKP1   HNRNPKP2   HNRNPKP3   HNRNPKP4   HNRNPKP5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38983,968,083 - 83,980,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl983,968,083 - 83,980,631 (-)Ensemblhg38GRCh38
GRCh37986,582,998 - 86,595,530 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36985,772,912 - 85,785,339 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34983,812,645 - 83,824,636NCBI
Celera957,154,011 - 57,166,581 (-)NCBICelera
Cytogenetic Map9q21.32NCBI
HuRef956,408,631 - 56,421,199 (-)NCBIHuRef
CHM1_1986,729,595 - 86,742,166 (-)NCBICHM1_1
T2T-CHM13v2.0996,118,364 - 96,130,896 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dimethoxyphenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3',5'-cyclic UMP  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-phenylprop-2-enal  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5,6-dichloro-1-beta-D-ribofuranosyl-1H-benzimidazole  (ISO)
7,12-dimethyltetraphene  (ISO)
actinomycin D  (EXP)
aldehydo-D-glucose  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
bufalin  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
cannabidiol  (EXP)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chloromethylisothiazolinone  (EXP)
clofibric acid  (ISO)
clothianidin  (EXP)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
coumarin  (EXP)
CU-O LINKAGE  (EXP)
Cuprizon  (EXP)
cycloheximide  (ISO)
cyclophosphamide  (EXP,ISO)
D-glucose  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dihydroartemisinin  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP,ISO)
fenvalerate  (ISO)
fipronil  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fructose  (ISO)
furfural  (EXP)
gentamycin  (ISO)
glucose  (ISO)
glycine  (ISO)
glyphosate  (ISO)
haloperidol  (EXP)
hexadecanoic acid  (EXP)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
isobutanol  (EXP)
ivermectin  (EXP)
lipopolysaccharide  (EXP)
lovastatin  (ISO)
maneb  (ISO)
metformin  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-nitrosomorpholine  (ISO)
nickel atom  (ISO)
Nutlin-3  (EXP)
ochratoxin A  (ISO)
paclitaxel  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
propiconazole  (ISO)
quartz  (EXP)
quercetin  (EXP)
resveratrol  (ISO)
rottlerin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sodium fluoride  (ISO)
sulforaphane  (EXP)
T-2 toxin  (ISO)
thapsigargin  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)
warfarin  (ISO)
withaferin A  (EXP)
Withanone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acute-phase response  (ISO)
camera-type eye development  (ISO)
cellular response to amino acid stimulus  (ISO)
cellular response to forskolin  (ISO)
cellular response to glucose stimulus  (ISO)
cellular response to insulin stimulus  (ISO)
cellular response to lead ion  (ISO)
cellular response to rapamycin  (ISO)
cerebellum development  (ISO)
cerebral cortex development  (ISO)
hippocampus development  (ISO)
kidney development  (ISO)
liver development  (ISO)
lung development  (ISO)
male gonad development  (ISO)
modulation of chemical synaptic transmission  (ISO)
mRNA processing  (IEA)
mRNA splicing, via spliceosome  (IC)
negative regulation of apoptotic process  (IMP,ISO)
negative regulation of branching morphogenesis of a nerve  (ISO)
negative regulation of DNA-templated transcription  (IMP)
negative regulation of gene expression  (IEA,ISO)
negative regulation of mRNA splicing, via spliceosome  (IEA)
negative regulation of protein binding  (ISO)
negative regulation of RNA metabolic process  (IEA)
negative regulation of transcription by RNA polymerase II  (ISO)
ovarian follicle development  (ISO)
peripheral nervous system development  (ISO)
positive regulation of dendrite extension  (ISO)
positive regulation of dendritic spine development  (ISO)
positive regulation of long-term synaptic potentiation  (ISO)
positive regulation of low-density lipoprotein particle clearance  (IMP)
positive regulation of myelination  (ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of protein localization to cell surface  (ISO)
positive regulation of RNA splicing  (ISO)
positive regulation of synapse maturation  (ISO)
positive regulation of synaptic transmission  (ISO)
positive regulation of transcription by RNA polymerase II  (IEA)
random inactivation of X chromosome  (IDA)
regulation of apoptotic process  (IEA)
regulation of DNA-templated transcription  (IEA)
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  (IEA)
regulation of mRNA splicing, via spliceosome  (IBA)
regulation of postsynapse organization  (ISO)
regulation of transcription by RNA polymerase II  (IBA,ISO)
regulatory ncRNA-mediated heterochromatin formation  (IMP)
response to activity  (ISO)
response to salt  (ISO)
RNA processing  (TAS)
RNA splicing  (IEA)
signal transduction  (TAS)
thymus development  (ISO)

Cellular Component

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

Human Phenotype
Abnormal four chamber view of the fetal heart  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal optic nerve morphology  (IAGP)
Abnormality of primary teeth  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Antenatal onset  (IAGP)
Aortic aneurysm  (IAGP)
Aortic root aneurysm  (IAGP)
Areflexia  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bifid nasal tip  (IAGP)
Bifid tongue  (IAGP)
Bifid uvula  (IAGP)
Branchial anomaly  (IAGP)
Breech presentation  (IAGP)
Broad nasal tip  (IAGP)
Bruxism  (IAGP)
Chronic kidney disease  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Coloboma  (IAGP)
Conductive hearing impairment  (IAGP)
Constipation  (IAGP)
Coxa valga  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cystic hygroma  (IAGP)
Deep palmar crease  (IAGP)
Deep plantar creases  (IAGP)
Delayed ability to walk  (IAGP)
Dental malocclusion  (IAGP)
Dilatation of the renal pelvis  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Easy fatigability  (IAGP)
Episodic vomiting  (IAGP)
Eversion of lateral third of lower eyelids  (IAGP)
Exaggerated cupid's bow  (IAGP)
Exaggerated median tongue furrow  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal pericardial effusion  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Gastroparesis  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Growth delay  (IAGP)
Heat intolerance  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip dysplasia  (IAGP)
Hydronephrosis  (IAGP)
Hyperhidrosis  (IAGP)
Hypermetropia  (IAGP)
Hypertension  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired pain sensation  (IAGP)
Inability to walk  (IAGP)
Increased nuchal translucency  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Inverted nipples  (IAGP)
Joint hypermobility  (IAGP)
Lagophthalmos  (IAGP)
Lambdoidal craniosynostosis  (IAGP)
Lipomyelomeningocele  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Macroglossia  (IAGP)
Metopic synostosis  (IAGP)
Microcephaly  (IAGP)
Microtia  (IAGP)
Muscle weakness  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Nocturnal hypoventilation  (IAGP)
Oligodontia  (IAGP)
Open bite  (IAGP)
Open mouth  (IAGP)
Optic nerve hypoplasia  (IAGP)
Osteopenia  (IAGP)
Overgrowth  (IAGP)
Overlapping toe  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Plagiocephaly  (IAGP)
Poor speech  (IAGP)
Postaxial polydactyly  (IAGP)
Preauricular pit  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent nasal bridge  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Recurrent fever  (IAGP)
Reduced tendon reflexes  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Sagittal craniosynostosis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shallow orbits  (IAGP)
Short nose  (IAGP)
Single umbilical artery  (IAGP)
Sparse lateral eyebrow  (IAGP)
Supernumerary nipple  (IAGP)
Syringomyelia  (IAGP)
Talipes equinovarus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thoracolumbar scoliosis  (IAGP)
Tooth agenesis  (IAGP)
Type 1 muscle fiber atrophy  (IAGP)
Typical absence seizure  (IAGP)
Underdeveloped nasal alae  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral segmentation defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
Wide nasal ridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Antibodies against heterogeneous nuclear ribonucleoprotein K in patients with cardiac allograft vasculopathy. Acevedo MJ, etal., J Heart Lung Transplant. 2011 Sep;30(9):1051-9. doi: 10.1016/j.healun.2011.02.014. Epub 2011 Apr 13.
2. Heterogeneous nuclear ribonucleoprotein K: altered pattern of expression associated with diagnosis and prognosis of prostate cancer. Barboro P, etal., Br J Cancer. 2009 May 19;100(10):1608-16. doi: 10.1038/sj.bjc.6605057. Epub 2009 Apr 28.
3. Multitarget neuroprotection by quercetin: Changes in gene expression in two perinatal asphyxia models. Cardozo V, etal., Neurochem Int. 2021 Jul;147:105064. doi: 10.1016/j.neuint.2021.105064. Epub 2021 May 2.
4. Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors. Chen YI, etal., Nucleic Acids Res. 2007;35(12):3928-44. Epub 2007 May 30.
5. Regulation of neuroendocrine differentiation by AKT/hnRNPK/AR/beta-catenin signaling in prostate cancer cells. Ciarlo M, etal., Int J Cancer. 2012 Aug 1;131(3):582-90. doi: 10.1002/ijc.26402. Epub 2011 Oct 20.
6. The expression profile of RNA-binding proteins in primary and metastatic colorectal cancer: relationship of heterogeneous nuclear ribonucleoproteins with prognosis. Hope NR and Murray GI, Hum Pathol. 2011 Mar;42(3):393-402. doi: 10.1016/j.humpath.2010.08.006. Epub 2010 Dec 30.
7. Age-associated changes in hypothalamic and pituitary neuroendocrine gene expression in the rat. Kappeler L, etal., J Neuroendocrinol. 2003 Jun;15(6):592-601.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex. Thyagarajan A and Szaro BG, Brain Res. 2008 Jan 16;1189:33-42. Epub 2007 Nov 17.
14. The spliceosome: design principles of a dynamic RNP machine. Wahl MC, etal., Cell. 2009 Feb 20;136(4):701-18. doi: 10.1016/j.cell.2009.02.009.
15. Heterogeneous nuclear ribonucleoprotein K modulates angiotensinogen gene expression in kidney cells. Wei CC, etal., J Biol Chem. 2006 Sep 1;281(35):25344-55. Epub 2006 Jul 12.
16. Proteomic identification of heterogeneous nuclear ribonucleoprotein K as a novel cold-associated autoantigen in patients with secondary Raynaud's phenomenon. Yang L, etal., Rheumatology (Oxford). 2015 Feb;54(2):349-58. doi: 10.1093/rheumatology/keu325. Epub 2014 Aug 28.
17. Presynaptic regulation of astroglial excitatory neurotransmitter transporter GLT1. Yang Y, etal., Neuron. 2009 Mar 26;61(6):880-94. doi: 10.1016/j.neuron.2009.02.010.
Additional References at PubMed
PMID:1729596   PMID:7516469   PMID:7862126   PMID:8051112   PMID:8107114   PMID:8152927   PMID:8398153   PMID:8628302   PMID:8810341   PMID:8833161   PMID:8889548   PMID:9185665  
PMID:9399639   PMID:9553145   PMID:9651361   PMID:10329716   PMID:10332027   PMID:10369774   PMID:10506147   PMID:10749975   PMID:10772858   PMID:10809782   PMID:11231586   PMID:11259409  
PMID:11557983   PMID:11741984   PMID:11748221   PMID:11790298   PMID:11840567   PMID:11867641   PMID:11991638   PMID:12029088   PMID:12052863   PMID:12093748   PMID:12183049   PMID:12183465  
PMID:12226669   PMID:12370808   PMID:12388589   PMID:12411317   PMID:12477932   PMID:12529443   PMID:12574161   PMID:12577067   PMID:12951515   PMID:14559993   PMID:14562022   PMID:14702039  
PMID:14744259   PMID:15039586   PMID:15161933   PMID:15170860   PMID:15302935   PMID:15303970   PMID:15489334   PMID:15514164   PMID:15635413   PMID:15671036   PMID:15782174   PMID:15848144  
PMID:15860232   PMID:16004877   PMID:16009940   PMID:16055720   PMID:16130169   PMID:16189514   PMID:16196087   PMID:16230076   PMID:16293596   PMID:16344560   PMID:16404425   PMID:16492668  
PMID:16496041   PMID:16564677   PMID:16713569   PMID:16854432   PMID:16964243   PMID:17081983   PMID:17178840   PMID:17191129   PMID:17314511   PMID:17332742   PMID:17403666   PMID:17483488  
PMID:17561226   PMID:17573780   PMID:17620012   PMID:17620599   PMID:17643375   PMID:17667925   PMID:17672864   PMID:18029348   PMID:18247557   PMID:18320585   PMID:18377426   PMID:18441016  
PMID:18457437   PMID:18472002   PMID:18559600   PMID:18775702   PMID:18854243   PMID:18854308   PMID:19015635   PMID:19059912   PMID:19101556   PMID:19135240   PMID:19165527   PMID:19170760  
PMID:19174163   PMID:19249676   PMID:19258514   PMID:19330019   PMID:19380743   PMID:19394292   PMID:19520842   PMID:19531213   PMID:19548310   PMID:19609950   PMID:19653139   PMID:19738201  
PMID:19747914   PMID:19805454   PMID:19808671   PMID:19880579   PMID:19946338   PMID:19946888   PMID:20085233   PMID:20111909   PMID:20131911   PMID:20224598   PMID:20360068   PMID:20371611  
PMID:20408130   PMID:20458337   PMID:20467437   PMID:20499280   PMID:20548952   PMID:20623123   PMID:20697350   PMID:20850016   PMID:20888333   PMID:20890123   PMID:20936779   PMID:21044950  
PMID:21081503   PMID:21145461   PMID:21151833   PMID:21182205   PMID:21184736   PMID:21233203   PMID:21280222   PMID:21319273   PMID:21321982   PMID:21423176   PMID:21466159   PMID:21516116  
PMID:21549307   PMID:21653829   PMID:21821029   PMID:21873635   PMID:21900255   PMID:21901101   PMID:21942715   PMID:21988832   PMID:22268729   PMID:22321252   PMID:22335908   PMID:22365833  
PMID:22379092   PMID:22446626   PMID:22457825   PMID:22542455   PMID:22558309   PMID:22582387   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22751105   PMID:22760167   PMID:22825850  
PMID:22863883   PMID:22879910   PMID:22939629   PMID:22960638   PMID:23084401   PMID:23092970   PMID:23099853   PMID:23125841   PMID:23178491   PMID:23184937   PMID:23246001   PMID:23317503  
PMID:23343766   PMID:23414517   PMID:23455382   PMID:23463506   PMID:23503679   PMID:23519117   PMID:23533145   PMID:23564449   PMID:23798440   PMID:23798571   PMID:23824909   PMID:23825951  
PMID:23843646   PMID:23857582   PMID:23974796   PMID:23979707   PMID:24075985   PMID:24169447   PMID:24244333   PMID:24332808   PMID:24337577   PMID:24457600   PMID:24508256   PMID:24583282  
PMID:24594223   PMID:24626777   PMID:24639526   PMID:24654937   PMID:24706805   PMID:24711643   PMID:24885469   PMID:24965446   PMID:24980433   PMID:25005557   PMID:25071155   PMID:25144556  
PMID:25147182   PMID:25192599   PMID:25253489   PMID:25281771   PMID:25324306   PMID:25410660   PMID:25416956   PMID:25437307   PMID:25468996   PMID:25497182   PMID:25569684   PMID:25678563  
PMID:25701787   PMID:25713416   PMID:25756610   PMID:25843628   PMID:25865411   PMID:25910212   PMID:25921289   PMID:25948554   PMID:25963833   PMID:26136337   PMID:26164948   PMID:26167880  
PMID:26170170   PMID:26173930   PMID:26209609   PMID:26217791   PMID:26305187   PMID:26317903   PMID:26318153   PMID:26330540   PMID:26344197   PMID:26412324   PMID:26414014   PMID:26496610  
PMID:26527279   PMID:26530384   PMID:26586566   PMID:26641092   PMID:26643866   PMID:26693507   PMID:26713736   PMID:26760575   PMID:26816005   PMID:26823606   PMID:26831064   PMID:26871637  
PMID:26954065   PMID:26972000   PMID:26972480   PMID:26979993   PMID:26990986   PMID:27012187   PMID:27025967   PMID:27049467   PMID:27107012   PMID:27129302   PMID:27155326   PMID:27158335  
PMID:27278897   PMID:27292014   PMID:27424288   PMID:27462432   PMID:27465491   PMID:27503909   PMID:27576135   PMID:27591049   PMID:27684187   PMID:27793696   PMID:27862976   PMID:28065597  
PMID:28218735   PMID:28228215   PMID:28276505   PMID:28298427   PMID:28302793   PMID:28335083   PMID:28423622   PMID:28426877   PMID:28431233   PMID:28443643   PMID:28514442   PMID:28515276  
PMID:28581483   PMID:28592492   PMID:28675297   PMID:28708135   PMID:28838205   PMID:28869607   PMID:28902428   PMID:28927264   PMID:28977666   PMID:29044188   PMID:29180619   PMID:29220657  
PMID:29229926   PMID:29298432   PMID:29331416   PMID:29395067   PMID:29409808   PMID:29449217   PMID:29467282   PMID:29507755   PMID:29511296   PMID:29635000   PMID:29666234   PMID:29669786  
PMID:29676528   PMID:29721183   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29859926   PMID:29863498   PMID:29872149   PMID:29884807   PMID:29892012   PMID:29904177   PMID:29921878  
PMID:29931370   PMID:29955894   PMID:29969578   PMID:30009671   PMID:30021884   PMID:30106132   PMID:30144205   PMID:30320910   PMID:30349055   PMID:30372559   PMID:30397178   PMID:30442662  
PMID:30444036   PMID:30455355   PMID:30463901   PMID:30468106   PMID:30472188   PMID:30503554   PMID:30532072   PMID:30554943   PMID:30575818   PMID:30699358   PMID:30711629   PMID:30737378  
PMID:30745168   PMID:30771276   PMID:30793470   PMID:30804502   PMID:30836866   PMID:30884312   PMID:30886144   PMID:30940648   PMID:30948266   PMID:30997501   PMID:30998304   PMID:31010829  
PMID:31048545   PMID:31061501   PMID:31091453   PMID:31110205   PMID:31121493   PMID:31127648   PMID:31178390   PMID:31180492   PMID:31187136   PMID:31221168   PMID:31239290   PMID:31248990  
PMID:31253590   PMID:31279651   PMID:31300519   PMID:31324722   PMID:31332168   PMID:31395945   PMID:31413325   PMID:31492158   PMID:31501420   PMID:31536960   PMID:31586073   PMID:31623628  
PMID:31665637   PMID:31751430   PMID:31796584   PMID:31839598   PMID:31907279   PMID:31911655   PMID:31938050   PMID:31980649   PMID:31995728   PMID:31998294   PMID:32041737   PMID:32065448  
PMID:32129710   PMID:32235678   PMID:32296183   PMID:32322062   PMID:32347575   PMID:32385154   PMID:32433965   PMID:32449427   PMID:32499643   PMID:32513696   PMID:32529326   PMID:32538781  
PMID:32552912   PMID:32581104   PMID:32665550   PMID:32694731   PMID:32698014   PMID:32786267   PMID:32788342   PMID:32807901   PMID:32812023   PMID:32814053   PMID:32866608   PMID:32877691  
PMID:32901844   PMID:32905556   PMID:32929329   PMID:32989256   PMID:32994395   PMID:33022573   PMID:33111431   PMID:33174841   PMID:33226137   PMID:33239621   PMID:33306668   PMID:33470442  
PMID:33503405   PMID:33536335   PMID:33567341   PMID:33618749   PMID:33619115   PMID:33644029   PMID:33731207   PMID:33742100   PMID:33766124   PMID:33806648   PMID:33916271   PMID:33931969  
PMID:33961781   PMID:34065515   PMID:34079125   PMID:34091597   PMID:34185411   PMID:34189442   PMID:34244482   PMID:34265304   PMID:34314754   PMID:34349018   PMID:34373451   PMID:34431227  
PMID:34452628   PMID:34535262   PMID:34537242   PMID:34575922   PMID:34621897   PMID:34650049   PMID:34709727   PMID:34728620   PMID:34732716   PMID:34742742   PMID:34795231   PMID:34857003  
PMID:34901782   PMID:34914972   PMID:35013218   PMID:35022314   PMID:35031058   PMID:35037538   PMID:35091468   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35342346  
PMID:35352475   PMID:35356984   PMID:35416616   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35516420   PMID:35545047   PMID:35546148   PMID:35563538   PMID:35583604   PMID:35652658  
PMID:35676246   PMID:35676659   PMID:35696571   PMID:35819319   PMID:35831314   PMID:35831895   PMID:35844135   PMID:35866661   PMID:35914814   PMID:35915203   PMID:35944360   PMID:35973989  
PMID:36042349   PMID:36055981   PMID:36057605   PMID:36114006   PMID:36130591   PMID:36168627   PMID:36180527   PMID:36180891   PMID:36199071   PMID:36215168   PMID:36232890   PMID:36261283  
PMID:36282215   PMID:36307841   PMID:36317879   PMID:36329064   PMID:36373674   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36537216   PMID:36574265   PMID:36590901   PMID:36594163  
PMID:36617174   PMID:36634849   PMID:36700980   PMID:36736887   PMID:36762613   PMID:36811957   PMID:36897256   PMID:36933825   PMID:36950384   PMID:36964488   PMID:37059091   PMID:37071682  
PMID:37120454   PMID:37211047   PMID:37223481   PMID:37248433   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37438558   PMID:37448957   PMID:37460467   PMID:37519262   PMID:37575477  
PMID:37592256   PMID:37616343   PMID:37640791   PMID:37667382   PMID:37682707   PMID:37704626   PMID:37705046   PMID:37794589   PMID:37820061   PMID:37827155   PMID:37837399   PMID:37929963  
PMID:38113892   PMID:38165048   PMID:38172120   PMID:38279484   PMID:38280479   PMID:38334954   PMID:38414246   PMID:38654325   PMID:38697112   PMID:39066279   PMID:39231216   PMID:39358380  
PMID:39422127   PMID:39501047   PMID:39506849   PMID:39522233   PMID:40437099  


Genomics

Comparative Map Data
HNRNPK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38983,968,083 - 83,980,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl983,968,083 - 83,980,631 (-)Ensemblhg38GRCh38
GRCh37986,582,998 - 86,595,530 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36985,772,912 - 85,785,339 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34983,812,645 - 83,824,636NCBI
Celera957,154,011 - 57,166,581 (-)NCBICelera
Cytogenetic Map9q21.32NCBI
HuRef956,408,631 - 56,421,199 (-)NCBIHuRef
CHM1_1986,729,595 - 86,742,166 (-)NCBICHM1_1
T2T-CHM13v2.0996,118,364 - 96,130,896 (-)NCBIT2T-CHM13v2.0
Hnrnpk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391358,538,946 - 58,551,157 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1358,538,956 - 58,551,157 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381358,391,132 - 58,403,343 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1358,391,142 - 58,403,343 (-)Ensemblmm10GRCm38
MGSCv371358,493,312 - 58,503,877 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361358,401,574 - 58,412,139 (-)NCBIMGSCv36mm8
Celera1359,454,314 - 59,464,879 (-)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1331.04NCBI
Hnrnpk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8176,269,302 - 6,280,429 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl176,268,385 - 6,280,565 (+)EnsemblGRCr8
mRatBN7.2176,262,936 - 6,275,001 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl176,262,998 - 6,274,997 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx176,288,534 - 6,297,617 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0177,821,878 - 7,830,965 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0176,284,906 - 6,293,989 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0176,664,730 - 6,676,753 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl176,665,659 - 6,676,654 (+)Ensemblrn6Rnor6.0
Rnor_5.0178,868,934 - 8,881,126 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41712,196,630 - 12,205,720 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera176,375,531 - 6,384,621 (+)NCBICelera
RGSC_v3.11712,196,629 - 12,205,720 (+)NCBI
Cytogenetic Map17p14NCBI
Hnrnpk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554323,246,092 - 3,257,774 (+)Ensembl
ChiLan1.0NW_0049554323,246,090 - 3,257,774 (+)NCBIChiLan1.0ChiLan1.0
HNRNPK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21183,127,645 - 83,139,337 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1983,133,588 - 83,145,280 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0940,898,593 - 40,911,159 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1983,324,235 - 83,336,884 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl983,324,238 - 83,336,756 (-)EnsemblpanPan2panpan1.1
HNRNPK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1175,499,334 - 75,511,525 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl175,499,393 - 75,511,425 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha176,149,689 - 76,161,319 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0175,800,635 - 75,812,819 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl175,800,674 - 75,812,816 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1175,615,073 - 75,626,694 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0175,377,881 - 75,389,506 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0176,080,753 - 76,092,378 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Hnrnpk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947122,185,614 - 122,197,809 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936828828,837 - 838,720 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936828827,660 - 839,088 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HNRNPK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1030,975,702 - 30,987,956 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11030,975,639 - 30,987,955 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21035,102,731 - 35,115,113 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HNRNPK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11294,768,403 - 94,789,957 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1294,768,480 - 94,789,743 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603883,198,762 - 83,211,203 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hnrnpk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248097,538,568 - 7,548,272 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in HNRNPK
247 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031263.4(HNRNPK):c.59G>A (p.Gly20Asp) single nucleotide variant not provided [RCV000520303] Chr9:83977786 [GRCh38]
Chr9:86592701 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.796C>T (p.Pro266Ser) single nucleotide variant not provided [RCV000521799] Chr9:83972039 [GRCh38]
Chr9:86586954 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) single nucleotide variant Au-Kline syndrome [RCV000627090]|Inborn genetic diseases [RCV001267488]|not provided [RCV000522148] Chr9:83975466 [GRCh38]
Chr9:86590381 [GRCh37]
Chr9:9q21.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
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-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)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 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_002140.3(HNRNPK):c.872C>T (p.Pro291Leu) single nucleotide variant Malignant melanoma [RCV000068723] Chr9:83971963 [GRCh38]
Chr9:86586878 [GRCh37]
Chr9:85776698 [NCBI36]
Chr9:9q21.32		 not provided
NM_002140.3(HNRNPK):c.801T>A (p.Gly267=) single nucleotide variant Malignant melanoma [RCV000068724] Chr9:83972034 [GRCh38]
Chr9:86586949 [GRCh37]
Chr9:85776769 [NCBI36]
Chr9:9q21.32		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-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 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
NM_031263.4(HNRNPK):c.953+1dup duplication Au-Kline syndrome [RCV000195287] Chr9:83971880..83971881 [GRCh38]
Chr9:86586795..86586796 [GRCh37]
Chr9:9q21.32		 pathogenic|likely pathogenic
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) single nucleotide variant Au-Kline syndrome [RCV000195291] Chr9:83975462 [GRCh38]
Chr9:86590377 [GRCh37]
Chr9:9q21.32		 pathogenic|likely pathogenic
HNRNPK, 2-BP, 931TT (SCV000258957) variation AU-KLINE SYNDROME [RCV000762791] Chr9:9q21.32 pathogenic
NM_002140.4:c.779dupG duplication AU-KLINE SYNDROME [RCV000762792]   pathogenic
NM_031263.4(HNRNPK):c.1250C>A (p.Ser417Ter) single nucleotide variant not provided [RCV000347519] Chr9:83970273 [GRCh38]
Chr9:86585188 [GRCh37]
Chr9:9q21.32		 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_031263.4(HNRNPK):c.931_932insTT (p.Pro311fs) insertion Au-Kline syndrome [RCV000239391] Chr9:83971903..83971904 [GRCh38]
Chr9:86586818..86586819 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.569A>C (p.Asp190Ala) single nucleotide variant not provided [RCV000519930] Chr9:83972920 [GRCh38]
Chr9:86587835 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer) duplication Au-Kline syndrome [RCV000599465]|not provided [RCV000280016] Chr9:83972055..83972056 [GRCh38]
Chr9:86586970..86586971 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.229del (p.Ser77fs) deletion not provided [RCV000489050] Chr9:83975490 [GRCh38]
Chr9:86590405 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.1361+1G>A single nucleotide variant Au-Kline syndrome [RCV003315468] Chr9:83970161 [GRCh38]
Chr9:86585076 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.331-3C>G single nucleotide variant not provided [RCV003239214] Chr9:83973976 [GRCh38]
Chr9:86588891 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_002140.4(HNRNPK):c.1094delG deletion Au-Kline syndrome [RCV000598764] Chr9:83970911 [GRCh38]
Chr9:86585826 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_002140.4(HNRNPK):c.1009delG deletion Au-Kline syndrome [RCV000598720] Chr9:83971356 [GRCh38]
Chr9:86586271 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter) duplication Au-Kline syndrome [RCV000599062] Chr9:83971681..83971682 [GRCh38]
Chr9:86586596..86586597 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter) single nucleotide variant Au-Kline syndrome [RCV000599087]|Inborn genetic diseases [RCV000623294] Chr9:83971976 [GRCh38]
Chr9:86586891 [GRCh37]
Chr9:9q21.32		 pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_031263.4(HNRNPK):c.248G>A (p.Gly83Asp) single nucleotide variant Inborn genetic diseases [RCV001266115]|not provided [RCV000480923] Chr9:83975471 [GRCh38]
Chr9:86590386 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.792G>A (p.Met264Ile) single nucleotide variant not provided [RCV000480055] Chr9:83972043 [GRCh38]
Chr9:86586958 [GRCh37]
Chr9:9q21.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031263.4(HNRNPK):c.65G>A (p.Arg22His) single nucleotide variant Inborn genetic diseases [RCV000624505] Chr9:83977780 [GRCh38]
Chr9:86592695 [GRCh37]
Chr9:9q21.32		 likely pathogenic|uncertain significance
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro) single nucleotide variant Au-Kline syndrome [RCV000766266]|not provided [RCV001268875] Chr9:83973338 [GRCh38]
Chr9:86588253 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.1008+1G>A single nucleotide variant Au-Kline syndrome [RCV000599421]|not provided [RCV000519507] Chr9:83971671 [GRCh38]
Chr9:86586586 [GRCh37]
Chr9:9q21.32		 pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
NM_031263.4(HNRNPK):c.214-35A>G single nucleotide variant Au-Kline syndrome [RCV000625962] Chr9:83975540 [GRCh38]
Chr9:86590455 [GRCh37]
Chr9:9q21.32		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_031263.4(HNRNPK):c.-54C>G single nucleotide variant not provided [RCV001708000] Chr9:83978399 [GRCh38]
Chr9:86593314 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1062A>T (p.Pro354=) single nucleotide variant not provided [RCV000895399] Chr9:83971303 [GRCh38]
Chr9:86586218 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.646-1G>A single nucleotide variant Au-Kline syndrome [RCV000761597] Chr9:83972190 [GRCh38]
Chr9:86587105 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.1191+3A>T single nucleotide variant Au-Kline syndrome [RCV003314451] Chr9:83970734 [GRCh38]
Chr9:86585649 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.266G>C (p.Ser89Thr) single nucleotide variant not provided [RCV001578262] Chr9:83974581 [GRCh38]
Chr9:86589496 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.516+15del deletion not provided [RCV001666361] Chr9:83973271 [GRCh38]
Chr9:86588186 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.331-109_331-107del microsatellite not provided [RCV001693049] Chr9:83974080..83974082 [GRCh38]
Chr9:86588995..86588997 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.435C>T (p.Cys145=) single nucleotide variant not provided [RCV000965789] Chr9:83973367 [GRCh38]
Chr9:86588282 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.258-8T>G single nucleotide variant not provided [RCV000899275] Chr9:83974597 [GRCh38]
Chr9:86589512 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1290C>T (p.Ser430=) single nucleotide variant not provided [RCV000928605] Chr9:83970233 [GRCh38]
Chr9:86585148 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1236A>G (p.Gln412=) single nucleotide variant not provided [RCV000922235] Chr9:83970287 [GRCh38]
Chr9:86585202 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.213+7A>G single nucleotide variant not provided [RCV000904837] Chr9:83976988 [GRCh38]
Chr9:86591903 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.45C>T (p.Thr15=) single nucleotide variant HNRNPK-related disorder [RCV003928626]|not provided [RCV000983702] Chr9:83978208 [GRCh38]
Chr9:86593123 [GRCh37]
Chr9:9q21.32		 likely benign
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_031263.4(HNRNPK):c.1140T>C (p.Tyr380=) single nucleotide variant not provided [RCV000897574] Chr9:83970788 [GRCh38]
Chr9:86585703 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1092+10C>G single nucleotide variant not provided [RCV000900629] Chr9:83971263 [GRCh38]
Chr9:86586178 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1172A>G (p.Gln391Arg) single nucleotide variant not provided [RCV003313452] Chr9:83970756 [GRCh38]
Chr9:86585671 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.72A>C (p.Ala24=) single nucleotide variant not provided [RCV000915711] Chr9:83977773 [GRCh38]
Chr9:86592688 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp) single nucleotide variant Au-Kline syndrome [RCV000850378] Chr9:83970805 [GRCh38]
Chr9:86585720 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg) single nucleotide variant Au-Kline syndrome [RCV000991218] Chr9:83977005 [GRCh38]
Chr9:86591920 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.140_143delinsATCA (p.Ile47_Leu48delinsAsnGln) indel Au-Kline syndrome [RCV000825009] Chr9:83977702..83977705 [GRCh38]
Chr9:86592617..86592620 [GRCh37]
Chr9:9q21.32		 likely pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_031263.4(HNRNPK):c.257+5G>A single nucleotide variant Au-Kline syndrome [RCV003315469] Chr9:83975457 [GRCh38]
Chr9:86590372 [GRCh37]
Chr9:9q21.32		 pathogenic
GRCh37/hg19 9q21.32-21.33(chr9:86434567-88413614)x3 copy number gain not provided [RCV000846141] Chr9:86434567..88413614 [GRCh37]
Chr9:9q21.32-21.33		 uncertain significance
NM_031263.4(HNRNPK):c.1192-14_1192-2del deletion Au-Kline syndrome [RCV001197488] Chr9:83970333..83970345 [GRCh38]
Chr9:86585248..86585260 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His) single nucleotide variant Au-Kline syndrome [RCV001009606]|not provided [RCV001200538] Chr9:83972162 [GRCh38]
Chr9:86587077 [GRCh37]
Chr9:9q21.32		 pathogenic|likely pathogenic
NM_031263.4(HNRNPK):c.560A>G (p.His187Arg) single nucleotide variant Au-Kline syndrome [RCV000993562] Chr9:83972929 [GRCh38]
Chr9:86587844 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.431_434del (p.Asp144fs) deletion not provided [RCV001571440] Chr9:83973368..83973371 [GRCh38]
Chr9:86588283..86588286 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.213+162T>G single nucleotide variant not provided [RCV001611045] Chr9:83976833 [GRCh38]
Chr9:86591748 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.58+33T>A single nucleotide variant not provided [RCV001687622] Chr9:83978162 [GRCh38]
Chr9:86593077 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1191+93_1191+94del deletion not provided [RCV001716507] Chr9:83970643..83970644 [GRCh38]
Chr9:86585558..86585559 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.156+166C>T single nucleotide variant not provided [RCV001672230] Chr9:83977523 [GRCh38]
Chr9:86592438 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1260G>A (p.Ser420=) single nucleotide variant not provided [RCV000933344] Chr9:83970263 [GRCh38]
Chr9:86585178 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.969T>C (p.Tyr323=) single nucleotide variant not provided [RCV000899025] Chr9:83971711 [GRCh38]
Chr9:86586626 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1362-9_1362-5del microsatellite not provided [RCV000889756] Chr9:83969445..83969449 [GRCh38]
Chr9:86584360..86584364 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.885A>C (p.Gly295=) single nucleotide variant not provided [RCV003011725] Chr9:83971950 [GRCh38]
Chr9:86586865 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.213+2dup duplication Au-Kline syndrome [RCV002470441] Chr9:83976992..83976993 [GRCh38]
Chr9:86591907..86591908 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.1361+166dup duplication not provided [RCV001689018] Chr9:83969995..83969996 [GRCh38]
Chr9:86584910..86584911 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1008+62C>T single nucleotide variant not provided [RCV001608553] Chr9:83971610 [GRCh38]
Chr9:86586525 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.517-93del deletion not provided [RCV001596587] Chr9:83973065 [GRCh38]
Chr9:86587980 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.330+171A>T single nucleotide variant not provided [RCV001657623] Chr9:83974346 [GRCh38]
Chr9:86589261 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1361+174T>C single nucleotide variant not provided [RCV001597885] Chr9:83969988 [GRCh38]
Chr9:86584903 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.330+170del deletion not provided [RCV001596213] Chr9:83974347 [GRCh38]
Chr9:86589262 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.213+53A>G single nucleotide variant not provided [RCV001650116] Chr9:83976942 [GRCh38]
Chr9:86591857 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.330+170T>A single nucleotide variant not provided [RCV001620977] Chr9:83974347 [GRCh38]
Chr9:86589262 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.58+182T>G single nucleotide variant not provided [RCV001638478] Chr9:83978013 [GRCh38]
Chr9:86592928 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.779G>A (p.Gly260Asp) single nucleotide variant Au-Kline syndrome [RCV001614482] Chr9:83972056 [GRCh38]
Chr9:86586971 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.-28+41del deletion not provided [RCV001680450] Chr9:83978332 [GRCh38]
Chr9:86593247 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.364C>T (p.Gln122Ter) single nucleotide variant Au-Kline syndrome [RCV001650471] Chr9:83973940 [GRCh38]
Chr9:86588855 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.517-16del deletion not provided [RCV001613648] Chr9:83972988 [GRCh38]
Chr9:86587903 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.157-60T>C single nucleotide variant not provided [RCV001641932] Chr9:83977111 [GRCh38]
Chr9:86592026 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.875del (p.Pro292fs) deletion Inborn genetic diseases [RCV001266832] Chr9:83971960 [GRCh38]
Chr9:86586875 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.1294del (p.Asp432fs) deletion Intellectual disability [RCV001261372] Chr9:83970229 [GRCh38]
Chr9:86585144 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.1273G>T (p.Glu425Ter) single nucleotide variant not provided [RCV001268075] Chr9:83970250 [GRCh38]
Chr9:86585165 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.676_678del (p.Asp226del) deletion Inborn genetic diseases [RCV001267557] Chr9:83972157..83972159 [GRCh38]
Chr9:86587072..86587074 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.573_574del (p.Arg191fs) microsatellite Au-Kline syndrome [RCV001330885] Chr9:83972915..83972916 [GRCh38]
Chr9:86587830..86587831 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.1093-4T>G single nucleotide variant AU-KLINE SYNDROME [RCV001330884] Chr9:83970916 [GRCh38]
Chr9:86585831 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.645+1G>T single nucleotide variant Au-Kline syndrome [RCV001330886] Chr9:83972843 [GRCh38]
Chr9:86587758 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.954-5T>G single nucleotide variant not provided [RCV001310657] Chr9:83971731 [GRCh38]
Chr9:86586646 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.1282G>A (p.Glu428Lys) single nucleotide variant Au-Kline syndrome [RCV001391299] Chr9:83970241 [GRCh38]
Chr9:86585156 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.452T>A (p.Ile151Asn) single nucleotide variant Generalized hypotonia [RCV001526568] Chr9:83973350 [GRCh38]
Chr9:86588265 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.213+206C>T single nucleotide variant not provided [RCV001674744] Chr9:83976789 [GRCh38]
Chr9:86591704 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.-28+40_-28+41del deletion not provided [RCV001708729] Chr9:83978332..83978333 [GRCh38]
Chr9:86593247..86593248 [GRCh37]
Chr9:9q21.32		 benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_031263.4(HNRNPK):c.854C>T (p.Pro285Leu) single nucleotide variant not provided [RCV001761305] Chr9:83971981 [GRCh38]
Chr9:86586896 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.142C>G (p.Leu48Val) single nucleotide variant not provided [RCV001764134] Chr9:83977703 [GRCh38]
Chr9:86592618 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.*49T>C single nucleotide variant not provided [RCV001770772] Chr9:83969358 [GRCh38]
Chr9:86584273 [GRCh37]
Chr9:9q21.32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_031263.4(HNRNPK):c.1225C>T (p.Arg409Trp) single nucleotide variant Au-Kline syndrome [RCV001843891] Chr9:83970298 [GRCh38]
Chr9:86585213 [GRCh37]
Chr9:9q21.32		 likely pathogenic|uncertain significance
NM_031263.4(HNRNPK):c.1183C>T (p.Pro395Ser) single nucleotide variant Au-Kline syndrome [RCV001839388] Chr9:83970745 [GRCh38]
Chr9:86585660 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1359C>G (p.Asn453Lys) single nucleotide variant Au-Kline syndrome [RCV001839194] Chr9:83970164 [GRCh38]
Chr9:86585079 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.203T>C (p.Leu68Pro) single nucleotide variant Au-Kline syndrome [RCV002086754] Chr9:83977005 [GRCh38]
Chr9:86591920 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.953+14T>G single nucleotide variant not provided [RCV002116576] Chr9:83971868 [GRCh38]
Chr9:86586783 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1191+9C>T single nucleotide variant HNRNPK-related disorder [RCV003966266]|not provided [RCV003112445] Chr9:83970728 [GRCh38]
Chr9:86585643 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1206T>C (p.Ile402=) single nucleotide variant not provided [RCV003115117] Chr9:83970317 [GRCh38]
Chr9:86585232 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.59-1G>C single nucleotide variant Au-Kline syndrome [RCV004797344] Chr9:83977787 [GRCh38]
Chr9:86592702 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.824C>T (p.Pro275Leu) single nucleotide variant not provided [RCV003156452] Chr9:83972011 [GRCh38]
Chr9:86586926 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.460_461del (p.Leu155fs) microsatellite Au-Kline syndrome [RCV003148044] Chr9:83973341..83973342 [GRCh38]
Chr9:86588256..86588257 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.448T>A (p.Leu150Met) single nucleotide variant not provided [RCV003149285] Chr9:83973354 [GRCh38]
Chr9:86588269 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1240C>T (p.Arg414Cys) single nucleotide variant Au-Kline syndrome [RCV002250047] Chr9:83970283 [GRCh38]
Chr9:86585198 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.989G>A (p.Gly330Glu) single nucleotide variant not provided [RCV002251789] Chr9:83971691 [GRCh38]
Chr9:86586606 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.1109A>G (p.Asp370Gly) single nucleotide variant Au-Kline syndrome [RCV002249073] Chr9:83970819 [GRCh38]
Chr9:86585734 [GRCh37]
Chr9:9q21.32		 likely pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_031263.4(HNRNPK):c.1109-3C>G single nucleotide variant Au-Kline syndrome [RCV002274461] Chr9:83970822 [GRCh38]
Chr9:86585737 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.1040_1041del (p.Ser347fs) microsatellite Au-Kline syndrome [RCV002285084] Chr9:83971324..83971325 [GRCh38]
Chr9:86586239..86586240 [GRCh37]
Chr9:9q21.32		 pathogenic
GRCh37/hg19 9q21.32(chr9:86588817-86588888)x1 copy number loss not provided [RCV002276216] Chr9:86588817..86588888 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.79A>C (p.Met27Leu) single nucleotide variant not provided [RCV002263502] Chr9:83977766 [GRCh38]
Chr9:86592681 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1048_1051del (p.Asp350fs) deletion Au-Kline syndrome [RCV002287866] Chr9:83971314..83971317 [GRCh38]
Chr9:86586229..86586232 [GRCh37]
Chr9:9q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_031263.4(HNRNPK):c.402+1G>A single nucleotide variant Au-Kline syndrome [RCV003330330] Chr9:83973901 [GRCh38]
Chr9:86588816 [GRCh37]
Chr9:9q21.32		 pathogenic|likely pathogenic
NM_031263.4(HNRNPK):c.620_637del (p.Lys207_Leu212del) deletion Au-Kline syndrome [RCV002282750] Chr9:83972852..83972869 [GRCh38]
Chr9:86587767..86587784 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.1370A>G (p.Gln457Arg) single nucleotide variant not provided [RCV002464707] Chr9:83969432 [GRCh38]
Chr9:86584347 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1192-7_1192-3del deletion Au-Kline syndrome [RCV002466335] Chr9:83970334..83970338 [GRCh38]
Chr9:86585249..86585253 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.440T>A (p.Leu147Ter) single nucleotide variant Au-Kline syndrome [RCV002472166] Chr9:83973362 [GRCh38]
Chr9:86588277 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.517-7_521del deletion Au-Kline syndrome [RCV003152908] Chr9:83972968..83972979 [GRCh38]
Chr9:86587883..86587894 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.1198G>A (p.Gly400Arg) single nucleotide variant Au-Kline syndrome [RCV003223436]|not provided [RCV002300756] Chr9:83970325 [GRCh38]
Chr9:86585240 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.517-4A>G single nucleotide variant not provided [RCV002858203] Chr9:83972976 [GRCh38]
Chr9:86587891 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.330+18dup duplication not provided [RCV002750866] Chr9:83974498..83974499 [GRCh38]
Chr9:86589413..86589414 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1192-17T>C single nucleotide variant not provided [RCV002750328] Chr9:83970348 [GRCh38]
Chr9:86585263 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.156+17T>A single nucleotide variant not provided [RCV002751002] Chr9:83977672 [GRCh38]
Chr9:86592587 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.12A>G (p.Glu4=) single nucleotide variant not provided [RCV003032919] Chr9:83978241 [GRCh38]
Chr9:86593156 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.330+18del deletion not provided [RCV002755806] Chr9:83974499 [GRCh38]
Chr9:86589414 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1118A>G (p.Tyr373Cys) single nucleotide variant not provided [RCV002756375] Chr9:83970810 [GRCh38]
Chr9:86585725 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1192-20del deletion not provided [RCV002730939] Chr9:83970351 [GRCh38]
Chr9:86585266 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.213+8T>C single nucleotide variant not provided [RCV002996759] Chr9:83976987 [GRCh38]
Chr9:86591902 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.330+18T>A single nucleotide variant not provided [RCV002750123] Chr9:83974499 [GRCh38]
Chr9:86589414 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1083T>C (p.Tyr361=) single nucleotide variant not provided [RCV003081534] Chr9:83971282 [GRCh38]
Chr9:86586197 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1009-11A>G single nucleotide variant not provided [RCV002736596] Chr9:83971367 [GRCh38]
Chr9:86586282 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1092+1G>A single nucleotide variant Inborn genetic diseases [RCV002762143] Chr9:83971272 [GRCh38]
Chr9:86586187 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.525A>G (p.Gln175=) single nucleotide variant not provided [RCV002620962] Chr9:83972964 [GRCh38]
Chr9:86587879 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.157-18T>C single nucleotide variant not provided [RCV002736099] Chr9:83977069 [GRCh38]
Chr9:86591984 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1092+20C>T single nucleotide variant not provided [RCV002736106] Chr9:83971253 [GRCh38]
Chr9:86586168 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.516+15dup duplication not provided [RCV002760545] Chr9:83973270..83973271 [GRCh38]
Chr9:86588185..86588186 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1092+10_1092+26del deletion not provided [RCV002736614] Chr9:83971247..83971263 [GRCh38]
Chr9:86586162..86586178 [GRCh37]
Chr9:9q21.32		 benign|uncertain significance
NM_031263.4(HNRNPK):c.882C>T (p.Pro294=) single nucleotide variant not provided [RCV002785286] Chr9:83971953 [GRCh38]
Chr9:86586868 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.645+13A>G single nucleotide variant not provided [RCV002866476] Chr9:83972831 [GRCh38]
Chr9:86587746 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.59-10T>C single nucleotide variant not provided [RCV002982748] Chr9:83977796 [GRCh38]
Chr9:86592711 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.59-15A>T single nucleotide variant not provided [RCV002745841] Chr9:83977801 [GRCh38]
Chr9:86592716 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.522T>C (p.Thr174=) single nucleotide variant not provided [RCV002765571] Chr9:83972967 [GRCh38]
Chr9:86587882 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1362-15dup duplication not provided [RCV002741267] Chr9:83969454..83969455 [GRCh38]
Chr9:86584369..86584370 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1362-15del deletion not provided [RCV002765443] Chr9:83969455 [GRCh38]
Chr9:86584370 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.646-10C>T single nucleotide variant not provided [RCV003024586] Chr9:83972199 [GRCh38]
Chr9:86587114 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.398dup (p.Leu133fs) duplication not provided [RCV003022960] Chr9:83973905..83973906 [GRCh38]
Chr9:86588820..86588821 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.825A>G (p.Pro275=) single nucleotide variant not provided [RCV002741384] Chr9:83972010 [GRCh38]
Chr9:86586925 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1362-16T>C single nucleotide variant not provided [RCV002829631] Chr9:83969456 [GRCh38]
Chr9:86584371 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.645+7C>A single nucleotide variant not provided [RCV002602895] Chr9:83972837 [GRCh38]
Chr9:86587752 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.575T>G (p.Val192Gly) single nucleotide variant Au-Kline syndrome [RCV002810025] Chr9:83972914 [GRCh38]
Chr9:86587829 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.517-16dup duplication not provided [RCV002745958] Chr9:83972987..83972988 [GRCh38]
Chr9:86587902..86587903 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1109-20C>T single nucleotide variant not provided [RCV002746179] Chr9:83970839 [GRCh38]
Chr9:86585754 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1009-9C>T single nucleotide variant not provided [RCV003011520] Chr9:83971365 [GRCh38]
Chr9:86586280 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.953+16dup duplication not provided [RCV002746092] Chr9:83971865..83971866 [GRCh38]
Chr9:86586780..86586781 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.10G>A (p.Glu4Lys) single nucleotide variant not provided [RCV002834609] Chr9:83978243 [GRCh38]
Chr9:86593158 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.403-12C>T single nucleotide variant not provided [RCV002811286] Chr9:83973411 [GRCh38]
Chr9:86588326 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1362-6_1362-5dup duplication not provided [RCV003063957] Chr9:83969444..83969445 [GRCh38]
Chr9:86584359..86584360 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.67C>T (p.Pro23Ser) single nucleotide variant Inborn genetic diseases [RCV002897166] Chr9:83977778 [GRCh38]
Chr9:86592693 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.84A>G (p.Glu28=) single nucleotide variant not provided [RCV002834852] Chr9:83977761 [GRCh38]
Chr9:86592676 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.953+17G>T single nucleotide variant not provided [RCV002745981] Chr9:83971865 [GRCh38]
Chr9:86586780 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1251G>A (p.Ser417=) single nucleotide variant not provided [RCV002607161] Chr9:83970272 [GRCh38]
Chr9:86585187 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.886C>T (p.Arg296Ter) single nucleotide variant Au-Kline syndrome [RCV003989822]|Neonatal encephalopathy [RCV003154303]|not provided [RCV003565622] Chr9:83971949 [GRCh38]
Chr9:86586864 [GRCh37]
Chr9:9q21.32		 pathogenic|likely pathogenic
NM_031263.4(HNRNPK):c.584T>C (p.Ile195Thr) single nucleotide variant Inborn genetic diseases [RCV003164883]|not provided [RCV003159408] Chr9:83972905 [GRCh38]
Chr9:86587820 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.214-4G>A single nucleotide variant not provided [RCV003221537] Chr9:83975509 [GRCh38]
Chr9:86590424 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.950_953+1dup duplication not provided [RCV003223303] Chr9:83971880..83971881 [GRCh38]
Chr9:86586795..86586796 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.455A>T (p.His152Leu) single nucleotide variant Au-Kline syndrome [RCV003135606] Chr9:83973347 [GRCh38]
Chr9:86588262 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.214-6A>G single nucleotide variant Au-Kline syndrome [RCV003226047]|Inborn genetic diseases [RCV004634241] Chr9:83975511 [GRCh38]
Chr9:86590426 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1108+1G>T single nucleotide variant not provided [RCV003228295] Chr9:83970896 [GRCh38]
Chr9:86585811 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.214-55T>A single nucleotide variant not provided [RCV003322089] Chr9:83975560 [GRCh38]
Chr9:86590475 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1191+2T>G single nucleotide variant Au-Kline syndrome [RCV003336595] Chr9:83970735 [GRCh38]
Chr9:86585650 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.871C>T (p.Pro291Ser) single nucleotide variant not provided [RCV003332521] Chr9:83971964 [GRCh38]
Chr9:86586879 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.139A>G (p.Ile47Val) single nucleotide variant Inborn genetic diseases [RCV003348418]|not provided [RCV003456583] Chr9:83977706 [GRCh38]
Chr9:86592621 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1092+7T>C single nucleotide variant not provided [RCV003571732] Chr9:83971266 [GRCh38]
Chr9:86586181 [GRCh37]
Chr9:9q21.32		 benign|uncertain significance
NM_031263.4(HNRNPK):c.566C>T (p.Thr189Ile) single nucleotide variant HNRNPK-related disorder [RCV003403072] Chr9:83972923 [GRCh38]
Chr9:86587838 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.1053_1054dup (p.Trp352fs) duplication HNRNPK-related disorder [RCV003404491] Chr9:83971310..83971311 [GRCh38]
Chr9:86586225..86586226 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.80T>C (p.Met27Thr) single nucleotide variant not provided [RCV003457557] Chr9:83977765 [GRCh38]
Chr9:86592680 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.709G>A (p.Gly237Ser) single nucleotide variant Au-Kline syndrome [RCV003458291] Chr9:83972126 [GRCh38]
Chr9:86587041 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.137G>T (p.Arg46Leu) single nucleotide variant not provided [RCV003443278] Chr9:83977708 [GRCh38]
Chr9:86592623 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.720A>C (p.Thr240=) single nucleotide variant not provided [RCV003430116] Chr9:83972115 [GRCh38]
Chr9:86587030 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1009-1G>A single nucleotide variant not provided [RCV003425698] Chr9:83971357 [GRCh38]
Chr9:86586272 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1109-1G>A single nucleotide variant HNRNPK-related disorder [RCV003403071] Chr9:83970820 [GRCh38]
Chr9:86585735 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.953+17G>C single nucleotide variant not provided [RCV003715957] Chr9:83971865 [GRCh38]
Chr9:86586780 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.156+5A>G single nucleotide variant not provided [RCV003695659] Chr9:83977684 [GRCh38]
Chr9:86592599 [GRCh37]
Chr9:9q21.32		 benign|uncertain significance
NM_031263.4(HNRNPK):c.1240del (p.Arg414fs) deletion not provided [RCV003693622] Chr9:83970283 [GRCh38]
Chr9:86585198 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.1093-15dup duplication not provided [RCV003715018] Chr9:83970926..83970927 [GRCh38]
Chr9:86585841..86585842 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.165G>A (p.Gly55=) single nucleotide variant not provided [RCV003689637] Chr9:83977043 [GRCh38]
Chr9:86591958 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1326C>T (p.Asp442=) single nucleotide variant not provided [RCV003687139] Chr9:83970197 [GRCh38]
Chr9:86585112 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1361+7T>G single nucleotide variant Au-Kline syndrome [RCV003984415]|not provided [RCV003712821] Chr9:83970155 [GRCh38]
Chr9:86585070 [GRCh37]
Chr9:9q21.32		 likely benign|uncertain significance
NM_031263.4(HNRNPK):c.1008+7A>G single nucleotide variant not provided [RCV003546264] Chr9:83971665 [GRCh38]
Chr9:86586580 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.59-14C>T single nucleotide variant not provided [RCV003660032] Chr9:83977800 [GRCh38]
Chr9:86592715 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.359C>T (p.Thr120Ile) single nucleotide variant not provided [RCV003689739] Chr9:83973945 [GRCh38]
Chr9:86588860 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.384T>A (p.Asp128Glu) single nucleotide variant not provided [RCV003549936] Chr9:83973920 [GRCh38]
Chr9:86588835 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.807T>G (p.Gly269=) single nucleotide variant not provided [RCV003702968] Chr9:83972028 [GRCh38]
Chr9:86586943 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.795T>C (p.Pro265=) single nucleotide variant not provided [RCV003726120] Chr9:83972040 [GRCh38]
Chr9:86586955 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.517-7dup duplication not provided [RCV003702245] Chr9:83972978..83972979 [GRCh38]
Chr9:86587893..86587894 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.690C>T (p.Tyr230=) single nucleotide variant not provided [RCV003703220] Chr9:83972145 [GRCh38]
Chr9:86587060 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1042G>A (p.Ala348Thr) single nucleotide variant Inborn genetic diseases [RCV004985511]|not provided [RCV003703411] Chr9:83971323 [GRCh38]
Chr9:86586238 [GRCh37]
Chr9:9q21.32		 likely benign|uncertain significance
NM_031263.4(HNRNPK):c.517-10C>T single nucleotide variant not provided [RCV003703190] Chr9:83972982 [GRCh38]
Chr9:86587897 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.953+8G>T single nucleotide variant not provided [RCV003725776] Chr9:83971874 [GRCh38]
Chr9:86586789 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.680C>A (p.Pro227His) single nucleotide variant not provided [RCV003559776] Chr9:83972155 [GRCh38]
Chr9:86587070 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.600T>C (p.Asp200=) single nucleotide variant not provided [RCV003702777] Chr9:83972889 [GRCh38]
Chr9:86587804 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.763A>G (p.Met255Val) single nucleotide variant not provided [RCV003667156] Chr9:83972072 [GRCh38]
Chr9:86586987 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1009-6dup duplication not provided [RCV003664272] Chr9:83971361..83971362 [GRCh38]
Chr9:86586276..86586277 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.43A>G (p.Thr15Ala) single nucleotide variant not provided [RCV003668268] Chr9:83978210 [GRCh38]
Chr9:86593125 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.516+13_516+15del deletion not provided [RCV003697883] Chr9:83973271..83973273 [GRCh38]
Chr9:86588186..86588188 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.16C>T (p.Pro6Ser) single nucleotide variant not provided [RCV003725314] Chr9:83978237 [GRCh38]
Chr9:86593152 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.403-17T>C single nucleotide variant not provided [RCV003697870] Chr9:83973416 [GRCh38]
Chr9:86588331 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1097G>C (p.Gly366Ala) single nucleotide variant not provided [RCV003666726] Chr9:83970908 [GRCh38]
Chr9:86585823 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.334C>T (p.Leu112=) single nucleotide variant not provided [RCV003731328] Chr9:83973970 [GRCh38]
Chr9:86588885 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.386C>G (p.Ala129Gly) single nucleotide variant not provided [RCV003705193] Chr9:83973918 [GRCh38]
Chr9:86588833 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1093-13T>C single nucleotide variant not provided [RCV003679535] Chr9:83970925 [GRCh38]
Chr9:86585840 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1153G>A (p.Gly385Arg) single nucleotide variant not provided [RCV003682785] Chr9:83970775 [GRCh38]
Chr9:86585690 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.516+3A>T single nucleotide variant not provided [RCV003553711] Chr9:83973283 [GRCh38]
Chr9:86588198 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1101C>T (p.Ser367=) single nucleotide variant HNRNPK-related disorder [RCV003946676]|not provided [RCV003551152] Chr9:83970904 [GRCh38]
Chr9:86585819 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.268A>G (p.Ile90Val) single nucleotide variant not provided [RCV003733400] Chr9:83974579 [GRCh38]
Chr9:86589494 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.258-7T>G single nucleotide variant not provided [RCV003551669] Chr9:83974596 [GRCh38]
Chr9:86589511 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1002C>T (p.Asp334=) single nucleotide variant not provided [RCV003731215] Chr9:83971678 [GRCh38]
Chr9:86586593 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.675T>C (p.Tyr225=) single nucleotide variant not provided [RCV003722407] Chr9:83972160 [GRCh38]
Chr9:86587075 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.876TCC[1] (p.Pro294del) microsatellite not provided [RCV003871424] Chr9:83971954..83971956 [GRCh38]
Chr9:86586869..86586871 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1192-6T>C single nucleotide variant not provided [RCV003565792] Chr9:83970337 [GRCh38]
Chr9:86585252 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.765G>A (p.Met255Ile) single nucleotide variant not provided [RCV003721796] Chr9:83972070 [GRCh38]
Chr9:86586985 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.516+20del deletion not provided [RCV003707361] Chr9:83973266 [GRCh38]
Chr9:86588181 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.511C>T (p.Arg171Ter) single nucleotide variant Au-Kline syndrome [RCV003985999] Chr9:83973291 [GRCh38]
Chr9:86588206 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.1126G>A (p.Gly376Ser) single nucleotide variant not provided [RCV003722956] Chr9:83970802 [GRCh38]
Chr9:86585717 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.240CAG[1] (p.Ser82del) microsatellite not provided [RCV003681432] Chr9:83975474..83975476 [GRCh38]
Chr9:86590389..86590391 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1297C>A (p.Arg433=) single nucleotide variant not provided [RCV003676428] Chr9:83970226 [GRCh38]
Chr9:86585141 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1108+17G>T single nucleotide variant not provided [RCV003710252] Chr9:83970880 [GRCh38]
Chr9:86585795 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.594A>G (p.Lys198=) single nucleotide variant not provided [RCV003708830] Chr9:83972895 [GRCh38]
Chr9:86587810 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.891C>T (p.Gly297=) single nucleotide variant not provided [RCV003707662] Chr9:83971944 [GRCh38]
Chr9:86586859 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.71C>G (p.Ala24Gly) single nucleotide variant not provided [RCV003821969] Chr9:83977774 [GRCh38]
Chr9:86592689 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.331-17T>C single nucleotide variant not provided [RCV003710705] Chr9:83973990 [GRCh38]
Chr9:86588905 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.90A>G (p.Glu30=) single nucleotide variant not provided [RCV003564016] Chr9:83977755 [GRCh38]
Chr9:86592670 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.995G>A (p.Arg332His) single nucleotide variant Au-Kline syndrome [RCV003990030] Chr9:83971685 [GRCh38]
Chr9:86586600 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.66_95del (p.Pro23_Ala32del) deletion Au-Kline syndrome [RCV004527109] Chr9:83977750..83977779 [GRCh38]
Chr9:86592665..86592694 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.563C>G (p.Ser188Cys) single nucleotide variant Au-Kline syndrome [RCV004555224]|HNRNPK-related disorder [RCV004755048] Chr9:83972926 [GRCh38]
Chr9:86587841 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1093-2A>C single nucleotide variant Au-Kline syndrome [RCV004566630] Chr9:83970914 [GRCh38]
Chr9:86585829 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.1000G>A (p.Asp334Asn) single nucleotide variant Inborn genetic diseases [RCV004399801] Chr9:83971680 [GRCh38]
Chr9:86586595 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.213+1G>A single nucleotide variant Inborn genetic diseases [RCV004399803] Chr9:83976994 [GRCh38]
Chr9:86591909 [GRCh37]
Chr9:9q21.32		 likely pathogenic|uncertain significance
NM_031263.4(HNRNPK):c.516+2dup duplication Inborn genetic diseases [RCV004399804] Chr9:83973283..83973284 [GRCh38]
Chr9:86588198..86588199 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1021G>A (p.Ala341Thr) single nucleotide variant Inborn genetic diseases [RCV004399802] Chr9:83971344 [GRCh38]
Chr9:86586259 [GRCh37]
Chr9:9q21.32		 likely benign
NC_000009.11:g.(?_86585632)_(86585847_?)dup duplication not provided [RCV004582077] Chr9:86585632..86585847 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.838_840del (p.Tyr280del) deletion not provided [RCV004590920] Chr9:83971995..83971997 [GRCh38]
Chr9:86586910..86586912 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1122_1123insT (p.Gly375fs) insertion Au-Kline syndrome [RCV004594969] Chr9:83970805..83970806 [GRCh38]
Chr9:86585720..86585721 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.892G>A (p.Gly298Ser) single nucleotide variant Inborn genetic diseases [RCV004632940] Chr9:83971943 [GRCh38]
Chr9:86586858 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.245G>C (p.Ser82Thr) single nucleotide variant Inborn genetic diseases [RCV004632941] Chr9:83975474 [GRCh38]
Chr9:86590389 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.517-6C>G single nucleotide variant Au-Kline syndrome [RCV004595180] Chr9:83972978 [GRCh38]
Chr9:86587893 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.446T>C (p.Leu149Pro) single nucleotide variant Au-Kline syndrome [RCV004595182] Chr9:83973356 [GRCh38]
Chr9:86588271 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.462T>G (p.Ser154Arg) single nucleotide variant Au-Kline syndrome [RCV004595183] Chr9:83973340 [GRCh38]
Chr9:86588255 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.27C>G (p.Thr9=) single nucleotide variant not provided [RCV004778949] Chr9:83978226 [GRCh38]
Chr9:86593141 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.112A>G (p.Asn38Asp) single nucleotide variant not provided [RCV004766245] Chr9:83977733 [GRCh38]
Chr9:86592648 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.557C>T (p.Pro186Leu) single nucleotide variant not provided [RCV004781426] Chr9:83972932 [GRCh38]
Chr9:86587847 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.847A>G (p.Met283Val) single nucleotide variant not provided [RCV004761313] Chr9:83971988 [GRCh38]
Chr9:86586903 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.214-13A>G single nucleotide variant not provided [RCV004722200] Chr9:83975518 [GRCh38]
Chr9:86590433 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.533T>C (p.Ile178Thr) single nucleotide variant HNRNPK-related disorder [RCV004730701] Chr9:83972956 [GRCh38]
Chr9:86587871 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.289A>G (p.Ile97Val) single nucleotide variant not provided [RCV004774882] Chr9:83974558 [GRCh38]
Chr9:86589473 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1003G>A (p.Gly335Ser) single nucleotide variant not provided [RCV004761047] Chr9:83971677 [GRCh38]
Chr9:86586592 [GRCh37]
Chr9:9q21.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_031263.4(HNRNPK):c.156+3A>G single nucleotide variant not provided [RCV004727609] Chr9:83977686 [GRCh38]
Chr9:86592601 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.547G>A (p.Glu183Lys) single nucleotide variant not provided [RCV005004006] Chr9:83972942 [GRCh38]
Chr9:86587857 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.26C>T (p.Thr9Ile) single nucleotide variant Inborn genetic diseases [RCV004985877] Chr9:83978227 [GRCh38]
Chr9:86593142 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1214A>C (p.Lys405Thr) single nucleotide variant Au-Kline syndrome [RCV005002127] Chr9:83970309 [GRCh38]
Chr9:86585224 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.516+14_516+15del deletion not provided [RCV005174641] Chr9:83973271..83973272 [GRCh38]
Chr9:86588186..86588187 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1038C>T (p.Asp346=) single nucleotide variant not provided [RCV005146228] Chr9:83971327 [GRCh38]
Chr9:86586242 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.292G>A (p.Gly98Arg) single nucleotide variant not provided [RCV005054752] Chr9:83974555 [GRCh38]
Chr9:86589470 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.156+11del deletion not provided [RCV005162053] Chr9:83977678 [GRCh38]
Chr9:86592593 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.922C>G (p.Pro308Ala) single nucleotide variant not provided [RCV005250799] Chr9:83971913 [GRCh38]
Chr9:86586828 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.576T>G (p.Val192=) single nucleotide variant not provided [RCV005153760] Chr9:83972913 [GRCh38]
Chr9:86587828 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.953+16del deletion not provided [RCV005178049] Chr9:83971866 [GRCh38]
Chr9:86586781 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.1192-9T>C single nucleotide variant not provided [RCV005128619] Chr9:83970340 [GRCh38]
Chr9:86585255 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.58+25A>G single nucleotide variant not provided [RCV005245243] Chr9:83978170 [GRCh38]
Chr9:86593085 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.214-18C>T single nucleotide variant not provided [RCV005151366] Chr9:83975523 [GRCh38]
Chr9:86590438 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.136C>T (p.Arg46Cys) single nucleotide variant Au-Kline syndrome [RCV005234177]|not provided [RCV005402271] Chr9:83977709 [GRCh38]
Chr9:86592624 [GRCh37]
Chr9:9q21.32		 pathogenic|likely pathogenic
NM_031263.4(HNRNPK):c.1379A>G (p.Asp460Gly) single nucleotide variant not provided [RCV005243048] Chr9:83969423 [GRCh38]
Chr9:86584338 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.646-10_646-9del microsatellite not provided [RCV005162680] Chr9:83972198..83972199 [GRCh38]
Chr9:86587113..86587114 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1192T>C (p.Leu398=) single nucleotide variant not provided [RCV005083273] Chr9:83970331 [GRCh38]
Chr9:86585246 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.258-9_258-7del deletion not provided [RCV005163832] Chr9:83974596..83974598 [GRCh38]
Chr9:86589511..86589513 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1093-15del deletion not provided [RCV005166921] Chr9:83970927 [GRCh38]
Chr9:86585842 [GRCh37]
Chr9:9q21.32		 benign
NM_031263.4(HNRNPK):c.702T>C (p.Tyr234=) single nucleotide variant not provided [RCV005162352] Chr9:83972133 [GRCh38]
Chr9:86587048 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.598G>A (p.Asp200Asn) single nucleotide variant not provided [RCV005154635] Chr9:83972891 [GRCh38]
Chr9:86587806 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.453T>A (p.Ile151=) single nucleotide variant not provided [RCV005160353] Chr9:83973349 [GRCh38]
Chr9:86588264 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.1364T>C (p.Val455Ala) single nucleotide variant not provided [RCV005156514] Chr9:83969438 [GRCh38]
Chr9:86584353 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1074dup (p.Met359fs) duplication Au-Kline syndrome [RCV005215804] Chr9:83971290..83971291 [GRCh38]
Chr9:86586205..86586206 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.331-8A>G single nucleotide variant not provided [RCV005180346] Chr9:83973981 [GRCh38]
Chr9:86588896 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.833G>C (p.Arg278Thr) single nucleotide variant not provided [RCV005156335] Chr9:83972002 [GRCh38]
Chr9:86586917 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.645+6_645+7insA insertion not provided [RCV005128725] Chr9:83972837..83972838 [GRCh38]
Chr9:86587752..86587753 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.202C>G (p.Leu68Val) single nucleotide variant not provided [RCV005152023] Chr9:83977006 [GRCh38]
Chr9:86591921 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.157-13G>A single nucleotide variant not provided [RCV005177785] Chr9:83977064 [GRCh38]
Chr9:86591979 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.954-18_954-16del microsatellite not provided [RCV005178176] Chr9:83971742..83971744 [GRCh38]
Chr9:86586657..86586659 [GRCh37]
Chr9:9q21.32		 likely benign
NM_031263.4(HNRNPK):c.380C>T (p.Ser127Phe) single nucleotide variant not provided [RCV005203841] Chr9:83973924 [GRCh38]
Chr9:86588839 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.703G>A (p.Asp235Asn) single nucleotide variant Inborn genetic diseases [RCV005345505] Chr9:83972132 [GRCh38]
Chr9:86587047 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.980_983dup (p.Pro329fs) duplication Au-Kline syndrome [RCV005253456] Chr9:83971696..83971697 [GRCh38]
Chr9:86586611..86586612 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.999del (p.Arg332_Tyr333insTer) deletion Au-Kline syndrome [RCV005253345] Chr9:83971681 [GRCh38]
Chr9:86586596 [GRCh37]
Chr9:9q21.32		 likely pathogenic
NM_031263.4(HNRNPK):c.949G>C (p.Gly317Arg) single nucleotide variant not provided [RCV005256431] Chr9:83971886 [GRCh38]
Chr9:86586801 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1025A>G (p.Asp342Gly) single nucleotide variant not provided [RCV005416964] Chr9:83971340 [GRCh38]
Chr9:86586255 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.504_507del (p.Lys168fs) deletion Au-Kline syndrome [RCV005412218] Chr9:83973295..83973298 [GRCh38]
Chr9:86588210..86588213 [GRCh37]
Chr9:9q21.32		 pathogenic
NM_031263.4(HNRNPK):c.1309A>G (p.Ile437Val) single nucleotide variant not provided [RCV005414846] Chr9:83970214 [GRCh38]
Chr9:86585129 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.517-1_524del deletion Au-Kline syndrome [RCV005403795] Chr9:83972965..83972973 [GRCh38]
Chr9:86587880..86587888 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.1071G>T (p.Trp357Cys) single nucleotide variant not provided [RCV005415264] Chr9:83971294 [GRCh38]
Chr9:86586209 [GRCh37]
Chr9:9q21.32		 uncertain significance
NM_031263.4(HNRNPK):c.256C>T (p.Arg86Cys) single nucleotide variant not provided [RCV005410568] Chr9:83975463 [GRCh38]
Chr9:86590378 [GRCh37]
Chr9:9q21.32		 pathogenic
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR450A2hsa-miR-450a-5pMirtarbaseexternal_infoWestern blot//MicroarrayFunctional MTI18230805
MIR21hsa-miR-21-5pOncomiRDBexternal_infoNANA18829576
MIR450A1hsa-miR-450a-5pMirtarbaseexternal_infoWestern blot//MicroarrayFunctional MTI18230805

Predicted Target Of
Summary Value
Count of predictions:2520
Count of miRNA genes:764
Interacting mature miRNAs:880
Transcripts:ENST00000351839, ENST00000360384, ENST00000376256, ENST00000376263, ENST00000376264, ENST00000376281, ENST00000457156, ENST00000472778, ENST00000481820, ENST00000483135, ENST00000492865, ENST00000493362
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597086583GWAS1182657_Hlymphocyte count QTL GWAS1182657 (human)4e-22lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)98398015583980156Human
597191068GWAS1287142_Hsex hormone-binding globulin measurement QTL GWAS1287142 (human)3e-50sex hormone-binding globulin measurement98398058383980584Human
597037795GWAS1133869_Hheel bone mineral density QTL GWAS1133869 (human)2e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)98397839983978400Human
597079283GWAS1175357_Hplatelet count QTL GWAS1175357 (human)6e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)98398058383980584Human
597189309GWAS1285383_Hfree androgen index QTL GWAS1285383 (human)3e-15free androgen index98397839983978400Human
597279665GWAS1375739_Hhigh density lipoprotein cholesterol measurement QTL GWAS1375739 (human)8e-09blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)98397711183977112Human
597280211GWAS1376285_Hsex hormone-binding globulin measurement QTL GWAS1376285 (human)1e-13sex hormone-binding globulin measurement98398058383980584Human
597254066GWAS1350140_Hplatelet-to-lymphocyte ratio QTL GWAS1350140 (human)4e-21platelet quantity (VT:0003179)98398058383980584Human
597144681GWAS1240755_Hhigh density lipoprotein cholesterol measurement QTL GWAS1240755 (human)1e-09blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)98397711183977112Human
597160745GWAS1256819_Hlipid measurement QTL GWAS1256819 (human)0.000002lipid amount (VT:0001547)blood lipid measurement (CMO:0000050)98397852883978529Human
596976970GWAS1096489_Hbody height QTL GWAS1096489 (human)2e-32body height98398015583980156Human

Markers in Region
D15S1328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37986,583,610 - 86,583,765UniSTSGRCh37
GRCh37396,070,341 - 96,070,496UniSTSGRCh37
Build 36397,553,031 - 97,553,186RGDNCBI36
Celera957,154,623 - 57,154,778UniSTS
Celera394,458,975 - 94,459,130RGD
Cytogenetic Map9q21.32-q21.33UniSTS
Cytogenetic Map3q11.2UniSTS
HuRef956,409,243 - 56,409,398UniSTS
HuRef393,439,760 - 93,439,915UniSTS
WI-9204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37986,583,916 - 86,584,024UniSTSGRCh37
Build 36985,773,736 - 85,773,844RGDNCBI36
Celera957,154,929 - 57,155,037RGD
Cytogenetic Map9q21.32-q21.33UniSTS
HuRef956,409,549 - 56,409,657UniSTS
HNRPK_448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375126,846,000 - 126,846,724UniSTSGRCh37
GRCh37986,583,096 - 86,583,837UniSTSGRCh37
Build 365126,873,899 - 126,874,623RGDNCBI36
Celera5122,976,808 - 122,977,532RGD
Celera957,154,109 - 57,154,850UniSTS
HuRef956,408,729 - 56,409,470UniSTS
HuRef5122,037,297 - 122,038,021UniSTS
IB2336  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q21.32-q21.33UniSTS
GeneMap99-GB4 RH Map9270.93UniSTS
Whitehead-RH Map9317.2UniSTS
HNRPK-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37986,584,324 - 86,585,122UniSTSGRCh37
Celera957,155,337 - 57,156,135UniSTS
HuRef956,409,957 - 56,410,755UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY911506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU736090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA394419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC318847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC407458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC428989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S74678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000351839   ⟹   ENSP00000317788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,197 - 83,978,452 (-)Ensembl
Ensembl Acc Id: ENST00000360384   ⟹   ENSP00000353552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,909 - 83,980,250 (-)Ensembl
Ensembl Acc Id: ENST00000376256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,973,292 - 83,975,770 (-)Ensembl
Ensembl Acc Id: ENST00000376263   ⟹   ENSP00000365439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,083 - 83,980,215 (-)Ensembl
Ensembl Acc Id: ENST00000376281   ⟹   ENSP00000365458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,083 - 83,980,604 (-)Ensembl
Ensembl Acc Id: ENST00000457156   ⟹   ENSP00000409456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,969,162 - 83,980,246 (-)Ensembl
Ensembl Acc Id: ENST00000472778   ⟹   ENSP00000475098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,969 - 83,980,616 (-)Ensembl
Ensembl Acc Id: ENST00000481820   ⟹   ENSP00000473957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,969,496 - 83,971,294 (-)Ensembl
Ensembl Acc Id: ENST00000483135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,976,508 - 83,980,595 (-)Ensembl
Ensembl Acc Id: ENST00000492865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,969,416 - 83,971,146 (-)Ensembl
Ensembl Acc Id: ENST00000493362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,969,198 - 83,970,786 (-)Ensembl
Ensembl Acc Id: ENST00000704004   ⟹   ENSP00000515617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,083 - 83,980,194 (-)Ensembl
Ensembl Acc Id: ENST00000704005   ⟹   ENSP00000515618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,121 - 83,980,620 (-)Ensembl
Ensembl Acc Id: ENST00000704006   ⟹   ENSP00000515619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,231 - 83,980,221 (-)Ensembl
Ensembl Acc Id: ENST00000704007   ⟹   ENSP00000515620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,302 - 83,980,194 (-)Ensembl
Ensembl Acc Id: ENST00000704008   ⟹   ENSP00000515621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,302 - 83,980,615 (-)Ensembl
Ensembl Acc Id: ENST00000704009   ⟹   ENSP00000515622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,302 - 83,980,615 (-)Ensembl
Ensembl Acc Id: ENST00000704010   ⟹   ENSP00000515623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,369 - 83,980,615 (-)Ensembl
Ensembl Acc Id: ENST00000704011   ⟹   ENSP00000515624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,385 - 83,980,185 (-)Ensembl
Ensembl Acc Id: ENST00000704012   ⟹   ENSP00000515625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,441 - 83,980,630 (-)Ensembl
Ensembl Acc Id: ENST00000704013   ⟹   ENSP00000515626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,454 - 83,980,215 (-)Ensembl
Ensembl Acc Id: ENST00000704014   ⟹   ENSP00000515627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,970,162 - 83,979,452 (-)Ensembl
Ensembl Acc Id: ENST00000704015   ⟹   ENSP00000515628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,970,164 - 83,980,631 (-)Ensembl
Ensembl Acc Id: ENST00000704016   ⟹   ENSP00000515629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,970,764 - 83,980,627 (-)Ensembl
Ensembl Acc Id: ENST00000704051   ⟹   ENSP00000515654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,276 - 83,979,955 (-)Ensembl
Ensembl Acc Id: ENST00000704052   ⟹   ENSP00000515655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,415 - 83,980,246 (-)Ensembl
Ensembl Acc Id: ENST00000704053   ⟹   ENSP00000515656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,423 - 83,980,006 (-)Ensembl
Ensembl Acc Id: ENST00000704054   ⟹   ENSP00000515657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,927 - 83,980,615 (-)Ensembl
Ensembl Acc Id: ENST00000704055   ⟹   ENSP00000515658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,945 - 83,980,219 (-)Ensembl
Ensembl Acc Id: ENST00000704056   ⟹   ENSP00000515659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,969 - 83,980,614 (-)Ensembl
Ensembl Acc Id: ENST00000704057   ⟹   ENSP00000515660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,975 - 83,979,621 (-)Ensembl
Ensembl Acc Id: ENST00000704058   ⟹   ENSP00000515661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,968,975 - 83,979,621 (-)Ensembl
Ensembl Acc Id: ENST00000704059   ⟹   ENSP00000515662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,969,275 - 83,979,981 (-)Ensembl
Ensembl Acc Id: ENST00000704060   ⟹   ENSP00000515663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl983,974,529 - 83,980,615 (-)Ensembl
RefSeq Acc Id: NM_001318186   ⟹   NP_001305115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,968,083 - 83,980,215 (-)NCBI
CHM1_1986,729,595 - 86,741,783 (-)NCBI
T2T-CHM13v2.0996,118,364 - 96,130,496 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318187   ⟹   NP_001305116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,968,083 - 83,980,215 (-)NCBI
CHM1_1986,729,595 - 86,741,783 (-)NCBI
T2T-CHM13v2.0996,118,364 - 96,130,496 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318188   ⟹   NP_001305117
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,968,083 - 83,980,215 (-)NCBI
CHM1_1986,729,595 - 86,741,783 (-)NCBI
T2T-CHM13v2.0996,118,364 - 96,130,496 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002140   ⟹   NP_002131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,968,083 - 83,980,615 (-)NCBI
GRCh37986,582,998 - 86,595,692 (-)NCBI
Build 36985,772,912 - 85,785,339 (-)NCBI Archive
HuRef956,408,631 - 56,421,199 (-)ENTREZGENE
CHM1_1986,729,595 - 86,742,294 (-)NCBI
T2T-CHM13v2.0996,118,364 - 96,130,896 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031262   ⟹   NP_112552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,968,083 - 83,980,615 (-)NCBI
GRCh37986,582,998 - 86,595,692 (-)NCBI
Build 36985,772,912 - 85,785,339 (-)NCBI Archive
HuRef956,408,631 - 56,421,199 (-)ENTREZGENE
CHM1_1986,729,595 - 86,742,294 (-)NCBI
T2T-CHM13v2.0996,118,364 - 96,130,896 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031263   ⟹   NP_112553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,968,083 - 83,980,215 (-)NCBI
GRCh37986,582,998 - 86,595,692 (-)NCBI
Build 36985,772,912 - 85,784,902 (-)NCBI Archive
HuRef956,408,631 - 56,421,199 (-)ENTREZGENE
CHM1_1986,729,595 - 86,741,783 (-)NCBI
T2T-CHM13v2.0996,118,364 - 96,130,496 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251960   ⟹   XP_005252017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,968,083 - 83,980,215 (-)NCBI
GRCh37986,582,998 - 86,595,692 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251963   ⟹   XP_005252020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,968,083 - 83,980,615 (-)NCBI
GRCh37986,582,998 - 86,595,692 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251965   ⟹   XP_005252022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,968,083 - 83,980,215 (-)NCBI
GRCh37986,582,998 - 86,595,692 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054362855   ⟹   XP_054218830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0996,118,364 - 96,130,528 (-)NCBI
RefSeq Acc Id: XM_054362856   ⟹   XP_054218831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0996,118,364 - 96,130,896 (-)NCBI
RefSeq Acc Id: XM_054362857   ⟹   XP_054218832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0996,118,364 - 96,130,528 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001305115 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305116 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305117 (Get FASTA)   NCBI Sequence Viewer  
  NP_002131 (Get FASTA)   NCBI Sequence Viewer  
  NP_112552 (Get FASTA)   NCBI Sequence Viewer  
  NP_112553 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252017 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252020 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252022 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218830 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218831 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218832 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB20770 (Get FASTA)   NCBI Sequence Viewer  
  AAH00355 (Get FASTA)   NCBI Sequence Viewer  
  AAH14980 (Get FASTA)   NCBI Sequence Viewer  
  AAW84289 (Get FASTA)   NCBI Sequence Viewer  
  BAD92799 (Get FASTA)   NCBI Sequence Viewer  
  BAF84025 (Get FASTA)   NCBI Sequence Viewer  
  BAG53278 (Get FASTA)   NCBI Sequence Viewer  
  BAG53872 (Get FASTA)   NCBI Sequence Viewer  
  BAG57412 (Get FASTA)   NCBI Sequence Viewer  
  BAG62413 (Get FASTA)   NCBI Sequence Viewer  
  BAG70077 (Get FASTA)   NCBI Sequence Viewer  
  BAG70204 (Get FASTA)   NCBI Sequence Viewer  
  CAA51267 (Get FASTA)   NCBI Sequence Viewer  
  CAG33052 (Get FASTA)   NCBI Sequence Viewer  
  EAW62675 (Get FASTA)   NCBI Sequence Viewer  
  EAW62676 (Get FASTA)   NCBI Sequence Viewer  
  EAW62677 (Get FASTA)   NCBI Sequence Viewer  
  EAW62678 (Get FASTA)   NCBI Sequence Viewer  
  EAW62679 (Get FASTA)   NCBI Sequence Viewer  
  EAW62680 (Get FASTA)   NCBI Sequence Viewer  
  EAW62681 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000317788.4
  ENSP00000353552
  ENSP00000353552.5
  ENSP00000365439
  ENSP00000365439.3
  ENSP00000365458
  ENSP00000365458.4
  ENSP00000409456
  ENSP00000409456.2
  ENSP00000515617
  ENSP00000515617.1
  ENSP00000515618.1
  ENSP00000515619.1
  ENSP00000515623
  ENSP00000515624
  ENSP00000515624.1
  ENSP00000515626
  ENSP00000515654.1
  ENSP00000515655.1
  ENSP00000515656.1
  ENSP00000515659
  ENSP00000515660.1
  ENSP00000515661.1
  ENSP00000515662.1
GenBank Protein P61978 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_112552   ⟸   NM_031262
- Peptide Label: isoform b
- UniProtKB: Q922Y7 (UniProtKB/Swiss-Prot),   Q6IBN1 (UniProtKB/Swiss-Prot),   Q60577 (UniProtKB/Swiss-Prot),   Q5T6W4 (UniProtKB/Swiss-Prot),   Q59F98 (UniProtKB/Swiss-Prot),   Q15671 (UniProtKB/Swiss-Prot),   Q07244 (UniProtKB/Swiss-Prot),   Q96J62 (UniProtKB/Swiss-Prot),   P61978 (UniProtKB/Swiss-Prot),   A0A994J782 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002131   ⟸   NM_002140
- Peptide Label: isoform a
- UniProtKB: Q5EC54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_112553   ⟸   NM_031263
- Peptide Label: isoform a
- UniProtKB: Q5EC54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005252020   ⟸   XM_005251963
- Peptide Label: isoform X2
- UniProtKB: A0A994J4E9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005252017   ⟸   XM_005251960
- Peptide Label: isoform X1
- UniProtKB: Q5EC54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005252022   ⟸   XM_005251965
- Peptide Label: isoform X2
- UniProtKB: A0A994J4E9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305115   ⟸   NM_001318186
- Peptide Label: isoform c
- UniProtKB: B4DUQ1 (UniProtKB/TrEMBL),   A0A994J4E9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305116   ⟸   NM_001318187
- Peptide Label: isoform d
- UniProtKB: A0A994J4E9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305117   ⟸   NM_001318188
- Peptide Label: isoform b
- UniProtKB: Q922Y7 (UniProtKB/Swiss-Prot),   Q6IBN1 (UniProtKB/Swiss-Prot),   Q60577 (UniProtKB/Swiss-Prot),   Q5T6W4 (UniProtKB/Swiss-Prot),   Q59F98 (UniProtKB/Swiss-Prot),   Q15671 (UniProtKB/Swiss-Prot),   Q07244 (UniProtKB/Swiss-Prot),   Q96J62 (UniProtKB/Swiss-Prot),   P61978 (UniProtKB/Swiss-Prot),   A0A994J782 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000353552   ⟸   ENST00000360384
Ensembl Acc Id: ENSP00000365439   ⟸   ENST00000376263
Ensembl Acc Id: ENSP00000365458   ⟸   ENST00000376281
Ensembl Acc Id: ENSP00000473957   ⟸   ENST00000481820
Ensembl Acc Id: ENSP00000409456   ⟸   ENST00000457156
Ensembl Acc Id: ENSP00000317788   ⟸   ENST00000351839
Ensembl Acc Id: ENSP00000475098   ⟸   ENST00000472778
Ensembl Acc Id: ENSP00000515625   ⟸   ENST00000704012
Ensembl Acc Id: ENSP00000515657   ⟸   ENST00000704054
Ensembl Acc Id: ENSP00000515663   ⟸   ENST00000704060
Ensembl Acc Id: ENSP00000515629   ⟸   ENST00000704016
Ensembl Acc Id: ENSP00000515623   ⟸   ENST00000704010
Ensembl Acc Id: ENSP00000515654   ⟸   ENST00000704051
Ensembl Acc Id: ENSP00000515628   ⟸   ENST00000704015
Ensembl Acc Id: ENSP00000515624   ⟸   ENST00000704011
Ensembl Acc Id: ENSP00000515627   ⟸   ENST00000704014
Ensembl Acc Id: ENSP00000515661   ⟸   ENST00000704058
Ensembl Acc Id: ENSP00000515660   ⟸   ENST00000704057
Ensembl Acc Id: ENSP00000515619   ⟸   ENST00000704006
Ensembl Acc Id: ENSP00000515662   ⟸   ENST00000704059
Ensembl Acc Id: ENSP00000515659   ⟸   ENST00000704056
Ensembl Acc Id: ENSP00000515622   ⟸   ENST00000704009
Ensembl Acc Id: ENSP00000515618   ⟸   ENST00000704005
Ensembl Acc Id: ENSP00000515617   ⟸   ENST00000704004
Ensembl Acc Id: ENSP00000515620   ⟸   ENST00000704007
Ensembl Acc Id: ENSP00000515621   ⟸   ENST00000704008
Ensembl Acc Id: ENSP00000515655   ⟸   ENST00000704052
Ensembl Acc Id: ENSP00000515626   ⟸   ENST00000704013
Ensembl Acc Id: ENSP00000515658   ⟸   ENST00000704055
Ensembl Acc Id: ENSP00000515656   ⟸   ENST00000704053
RefSeq Acc Id: XP_054218831   ⟸   XM_054362856
- Peptide Label: isoform X2
- UniProtKB: A0A994J4E9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218832   ⟸   XM_054362857
- Peptide Label: isoform X2
- UniProtKB: A0A994J4E9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218830   ⟸   XM_054362855
- Peptide Label: isoform X1
- UniProtKB: Q5EC54 (UniProtKB/TrEMBL)
Protein Domains
K Homology   KH   ROK N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P61978-F1-model_v2 AlphaFold P61978 1-463 view protein structure

Promoters
RGD ID:7215341
Promoter ID:EPDNEW_H13417
Type:initiation region
Name:HNRNPK_2
Description:heterogeneous nuclear ribonucleoprotein K
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13419  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,208 - 83,980,268EPDNEW
RGD ID:7215345
Promoter ID:EPDNEW_H13419
Type:initiation region
Name:HNRNPK_1
Description:heterogeneous nuclear ribonucleoprotein K
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13417  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38983,980,599 - 83,980,659EPDNEW
RGD ID:6807774
Promoter ID:HG_KWN:63840
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000052851,   OTTHUMT00000052853,   OTTHUMT00000052854
Position:
Human AssemblyChrPosition (strand)Source
Build 36985,774,946 - 85,776,472 (-)MPROMDB
RGD ID:6807800
Promoter ID:HG_KWN:63842
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376256,   UC004AND.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36985,779,441 - 85,781,262 (-)MPROMDB
RGD ID:6807775
Promoter ID:HG_KWN:63843
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:UC004ANE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36985,782,016 - 85,782,687 (-)MPROMDB
RGD ID:6807585
Promoter ID:HG_KWN:63844
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000351839
Position:
Human AssemblyChrPosition (strand)Source
Build 36985,783,064 - 85,783,564 (-)MPROMDB
RGD ID:6808053
Promoter ID:HG_KWN:63845
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:ENST00000376258,   ENST00000376264,   ENST00000376268,   NM_002140,   NM_024945,   NM_031262,   NM_031263,   OTTHUMT00000052848,   OTTHUMT00000052849,   OTTHUMT00000052852,   UC004ANG.2,   UC004ANH.2,   UC004ANI.2,   UC004ANJ.2,   UC004ANK.2,   UC004ANN.2,   UC004ANP.2,   UC004ANR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36985,784,236 - 85,786,197 (+)MPROMDB
RGD ID:6852306
Promoter ID:EP73960
Type:initiation region
Name:HS_HNRPK_2
Description:Heterogeneous nuclear ribonucleoprotein K.
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 alsoEP73959  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36985,784,953 - 85,785,013EPD
RGD ID:6852304
Promoter ID:EP73959
Type:initiation region
Name:HS_HNRPK_1
Description:Heterogeneous nuclear ribonucleoprotein K.
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 alsoEP73960  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36985,785,328 - 85,785,388EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5044 AgrOrtholog
COSMIC HNRNPK COSMIC
Ensembl Genes ENSG00000165119 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000351839.7 UniProtKB/Swiss-Prot
  ENST00000360384 ENTREZGENE
  ENST00000360384.9 UniProtKB/Swiss-Prot
  ENST00000376263 ENTREZGENE
  ENST00000376263.8 UniProtKB/Swiss-Prot
  ENST00000376281 ENTREZGENE
  ENST00000376281.8 UniProtKB/Swiss-Prot
  ENST00000457156 ENTREZGENE
  ENST00000457156.6 UniProtKB/Swiss-Prot
  ENST00000704004 ENTREZGENE
  ENST00000704004.1 UniProtKB/Swiss-Prot
  ENST00000704005.1 UniProtKB/Swiss-Prot
  ENST00000704006.1 UniProtKB/Swiss-Prot
  ENST00000704010 ENTREZGENE
  ENST00000704011 ENTREZGENE
  ENST00000704011.1 UniProtKB/Swiss-Prot
  ENST00000704013 ENTREZGENE
  ENST00000704051.1 UniProtKB/Swiss-Prot
  ENST00000704052.1 UniProtKB/Swiss-Prot
  ENST00000704053.1 UniProtKB/Swiss-Prot
  ENST00000704056 ENTREZGENE
  ENST00000704057.1 UniProtKB/Swiss-Prot
  ENST00000704058.1 UniProtKB/Swiss-Prot
  ENST00000704059.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.1370.10 UniProtKB/Swiss-Prot
GTEx ENSG00000165119 GTEx
HGNC ID HGNC:5044 ENTREZGENE
Human Proteome Map HNRNPK Human Proteome Map
InterPro KH_dom UniProtKB/Swiss-Prot
  KH_dom_type_1 UniProtKB/Swiss-Prot
  KH_dom_type_1_sf UniProtKB/Swiss-Prot
  ROK_N UniProtKB/Swiss-Prot
KEGG Report hsa:3190 UniProtKB/Swiss-Prot
NCBI Gene 3190 ENTREZGENE
OMIM 600712 OMIM
PANTHER KH DOMAIN CONTAINING RNA BINDING PROTEIN UniProtKB/Swiss-Prot
Pfam KH_1 UniProtKB/Swiss-Prot
  ROKNT UniProtKB/Swiss-Prot
PharmGKB PA162391350 PharmGKB
PROSITE KH_TYPE_1 UniProtKB/Swiss-Prot
SMART SM00322 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54791 UniProtKB/Swiss-Prot
UniProt A0A994J4E9 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J4S7_HUMAN UniProtKB/TrEMBL
  A0A994J4U9_HUMAN UniProtKB/TrEMBL
  A0A994J6T5_HUMAN UniProtKB/TrEMBL
  A0A994J6U9_HUMAN UniProtKB/TrEMBL
  A0A994J782 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J795_HUMAN UniProtKB/TrEMBL
  B4DUQ1 ENTREZGENE, UniProtKB/TrEMBL
  HNRPK_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q07244 ENTREZGENE
  Q15671 ENTREZGENE
  Q59F98 ENTREZGENE
  Q5EC54 ENTREZGENE, UniProtKB/TrEMBL
  Q5T6W2_HUMAN UniProtKB/TrEMBL
  Q5T6W4 ENTREZGENE
  Q60577 ENTREZGENE
  Q6IBN1 ENTREZGENE
  Q922Y7 ENTREZGENE
  Q96J62 ENTREZGENE
  S4R359_HUMAN UniProtKB/TrEMBL
  S4R457_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q07244 UniProtKB/Swiss-Prot
  Q15671 UniProtKB/Swiss-Prot
  Q59F98 UniProtKB/Swiss-Prot
  Q5T6W4 UniProtKB/Swiss-Prot
  Q60577 UniProtKB/Swiss-Prot
  Q6IBN1 UniProtKB/Swiss-Prot
  Q922Y7 UniProtKB/Swiss-Prot
  Q96J62 UniProtKB/Swiss-Prot