ATXN1 (ataxin 1) - Rat Genome Database

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Gene: ATXN1 (ataxin 1) Homo sapiens
Analyze
Symbol: ATXN1
Name: ataxin 1
RGD ID: 1344585
HGNC Page HGNC:10548
Description: Enables identical protein binding activity; protein self-association; and single-stranded RNA binding activity. Involved in negative regulation of DNA-templated transcription and nuclear export. Located in cytosol; nuclear inclusion body; and nuclear lumen. Implicated in spinocerebellar ataxia type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alternative ataxin1; ataxin-1; ATX1; D6S504E; SCA1; spinocerebellar ataxia type 1 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38616,299,112 - 16,761,460 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl616,299,112 - 16,761,491 (-)EnsemblGRCh38hg38GRCh38
GRCh37616,299,343 - 16,761,691 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36616,407,322 - 16,869,700 (-)NCBINCBI36Build 36hg18NCBI36
Build 34616,407,322 - 16,869,700NCBI
Celera617,537,162 - 17,999,561 (-)NCBICelera
Cytogenetic Map6p22.3NCBI
HuRef616,246,641 - 16,707,370 (-)NCBIHuRef
CHM1_1616,301,995 - 16,764,390 (-)NCBICHM1_1
T2T-CHM13v2.0616,171,667 - 16,634,155 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-colchicine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroacetaldehyde  (EXP)
chromium(6+)  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
daunorubicin  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
elemental selenium  (EXP)
Enterolactone  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fenvalerate  (ISO)
folic acid  (EXP,ISO)
fonofos  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
hydroxyurea  (EXP)
ibuprofen  (EXP)
ifosfamide  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
maneb  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (EXP)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
propiconazole  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
succimer  (ISO)
sunitinib  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brainstem morphology  (IAGP)
Abnormal flash visual evoked potentials  (IAGP)
Abnormal nerve conduction velocity  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Abnormality of somatosensory evoked potentials  (IAGP)
Adult onset  (IAGP)
Areflexia  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Bradykinesia  (IAGP)
Bulbar palsy  (IAGP)
Bulbar signs  (IAGP)
Cerebellar atrophy  (IAGP)
Chorea  (IAGP)
Cognitive impairment  (IAGP)
Decreased amplitude of sensory action potentials  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased sensory nerve conduction velocity  (IAGP)
Dilated fourth ventricle  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Dorsal column degeneration  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
Dysmetric saccades  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Fasciculations  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Gaze-evoked nystagmus  (IAGP)
Generalized hypotonia  (IAGP)
Genetic anticipation with paternal anticipation bias  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hypermetric saccades  (IAGP)
Hyperreflexia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired distal tactile sensation  (IAGP)
Impaired horizontal smooth pursuit  (IAGP)
Impaired pain sensation  (IAGP)
Impaired proprioception  (IAGP)
Impaired vibratory sensation  (IAGP)
Inertia  (IAGP)
Limb ataxia  (IAGP)
Loss of Purkinje cells in the cerebellar vermis  (IAGP)
Memory impairment  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Nystagmus  (IAGP)
Olivopontocerebellar atrophy  (IAGP)
Ophthalmoparesis  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Paresthesia  (IAGP)
Peripheral neuropathy  (IAGP)
Postural tremor  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Proximal muscle weakness  (IAGP)
Respiratory failure  (IAGP)
Scanning speech  (IAGP)
Schizophrenia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slow saccadic eye movements  (IAGP)
Slurred speech  (IAGP)
Spasticity  (IAGP)
Spinocerebellar atrophy  (IAGP)
Spinocerebellar tract degeneration  (IAGP)
Staring gaze  (IAGP)
Supranuclear ophthalmoplegia  (IAGP)
Tip-toe gait  (IAGP)
Truncal ataxia  (IAGP)
Upgaze palsy  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1582256   PMID:7647801   PMID:7951322   PMID:8358429   PMID:8619528   PMID:8634720   PMID:8872471   PMID:9097953   PMID:9353120   PMID:9353121   PMID:10713882   PMID:11001934  
PMID:11121205   PMID:11136710   PMID:11781699   PMID:11804332   PMID:11807410   PMID:11973625   PMID:12062018   PMID:12093161   PMID:12360291   PMID:12411613   PMID:12477932   PMID:12659632  
PMID:12741986   PMID:12757707   PMID:12757932   PMID:14574404   PMID:14583607   PMID:14756671   PMID:14985428   PMID:15016912   PMID:15148151   PMID:15167689   PMID:15292212   PMID:15300851  
PMID:15342556   PMID:15615787   PMID:15750336   PMID:15878393   PMID:15893665   PMID:16121196   PMID:16311891   PMID:16344560   PMID:16380905   PMID:16389595   PMID:16497448   PMID:16614004  
PMID:16713569   PMID:16831871   PMID:16967484   PMID:17110330   PMID:17127076   PMID:17190598   PMID:17442486   PMID:17557114   PMID:17646162   PMID:17925862   PMID:18029348   PMID:18160752  
PMID:18166084   PMID:18182848   PMID:18216249   PMID:18231590   PMID:18337722   PMID:18439907   PMID:18519031   PMID:19049837   PMID:19208651   PMID:19235102   PMID:19259763   PMID:19451621  
PMID:19500214   PMID:19597981   PMID:20018885   PMID:20037628   PMID:20069235   PMID:20097758   PMID:20132795   PMID:20220018   PMID:20301317   PMID:20301363   PMID:20308783   PMID:20379614  
PMID:20477910   PMID:20936779   PMID:21302343   PMID:21308649   PMID:21315774   PMID:21475249   PMID:21653829   PMID:21835928   PMID:21873635   PMID:22330095   PMID:22491195   PMID:22511762  
PMID:22666429   PMID:22780124   PMID:22916034   PMID:23197749   PMID:23275563   PMID:23294540   PMID:23333304   PMID:23377640   PMID:23414517   PMID:23528090   PMID:23536093   PMID:23634774  
PMID:23652004   PMID:23719381   PMID:23760502   PMID:24032423   PMID:24155902   PMID:24324551   PMID:24326307   PMID:24858692   PMID:24882209   PMID:25344417   PMID:25416956   PMID:25641559  
PMID:25959826   PMID:26002199   PMID:26522012   PMID:26760575   PMID:26879337   PMID:27193757   PMID:27466200   PMID:27577232   PMID:27686464   PMID:27918534   PMID:28212558   PMID:28514442  
PMID:28551466   PMID:28611215   PMID:29055568   PMID:29274668   PMID:29507755   PMID:29844126   PMID:29852174   PMID:30314815   PMID:30391819   PMID:30507379   PMID:31381977   PMID:31753913  
PMID:32296183   PMID:32339968   PMID:32408088   PMID:32763910   PMID:32814053   PMID:32908313   PMID:33159825   PMID:33640491   PMID:33772540   PMID:33961781   PMID:34302818   PMID:34635619  
PMID:35140242   PMID:35271311   PMID:35903875   PMID:35906672   PMID:36208132   PMID:36629882   PMID:36931259   PMID:37689310   PMID:38297188  


Genomics

Comparative Map Data
ATXN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38616,299,112 - 16,761,460 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl616,299,112 - 16,761,491 (-)EnsemblGRCh38hg38GRCh38
GRCh37616,299,343 - 16,761,691 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36616,407,322 - 16,869,700 (-)NCBINCBI36Build 36hg18NCBI36
Build 34616,407,322 - 16,869,700NCBI
Celera617,537,162 - 17,999,561 (-)NCBICelera
Cytogenetic Map6p22.3NCBI
HuRef616,246,641 - 16,707,370 (-)NCBIHuRef
CHM1_1616,301,995 - 16,764,390 (-)NCBICHM1_1
T2T-CHM13v2.0616,171,667 - 16,634,155 (-)NCBIT2T-CHM13v2.0
Atxn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391345,703,231 - 46,118,467 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1345,703,231 - 46,118,484 (-)EnsemblGRCm39 Ensembl
GRCm381345,549,755 - 45,964,991 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1345,549,755 - 45,965,008 (-)EnsemblGRCm38mm10GRCm38
MGSCv371345,650,262 - 46,060,345 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361345,565,865 - 45,975,948 (-)NCBIMGSCv36mm8
Celera1346,630,758 - 47,041,580 (-)NCBICelera
Cytogenetic Map13A5NCBI
cM Map1321.98NCBI
Atxn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81718,943,397 - 19,354,751 (+)NCBIGRCr8
mRatBN7.21718,737,491 - 19,142,360 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1718,737,533 - 19,142,360 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1718,622,877 - 19,027,380 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01720,226,714 - 20,631,212 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01718,550,018 - 18,954,499 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01719,160,986 - 19,533,814 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1719,249,952 - 19,533,814 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01721,184,036 - 21,473,347 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01721,544,083 - 21,559,271 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41724,719,383 - 25,138,270 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13103,267,365 - 103,268,238 (+)NCBI
Celera1718,442,710 - 18,844,739 (+)NCBICelera
Cytogenetic Map17p14NCBI
Atxn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554839,536,261 - 9,552,321 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554839,159,877 - 9,559,453 (+)NCBIChiLan1.0ChiLan1.0
ATXN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2530,966,019 - 30,995,125 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1626,957,458 - 26,980,693 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0616,155,049 - 16,952,827 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1616,519,331 - 16,978,090 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl616,526,563 - 16,548,566 (-)Ensemblpanpan1.1panPan2
ATXN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13515,458,498 - 15,863,829 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3515,452,135 - 15,649,747 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3515,407,327 - 15,813,549 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03515,554,267 - 15,960,589 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3515,547,891 - 15,745,477 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13515,378,364 - 15,779,653 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03515,430,962 - 15,836,082 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03516,757,017 - 17,163,739 (-)NCBIUU_Cfam_GSD_1.0
Atxn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049469,209,716 - 9,230,696 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365522,505,238 - 2,521,231 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365522,498,711 - 2,521,225 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATXN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl712,301,013 - 12,457,450 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1712,299,938 - 12,730,850 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2712,896,238 - 13,321,905 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATXN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11755,810,621 - 55,832,565 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1755,810,279 - 55,832,472 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604416,382,231 - 16,840,941 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atxn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475610,011,250 - 10,160,469 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247569,770,261 - 10,167,560 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATXN1
106 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38]) microsatellite Spinocerebellar ataxia type 1 [RCV000008537] Chr6:16327687..16327722 [GRCh38]
Chr6:16327918..16327953 [GRCh37]
Chr6:6p22.3		 pathogenic
NM_000332.3(ATXN1):c.-160-44169G>A single nucleotide variant Lung cancer [RCV000096669] Chr6:16372639 [GRCh38]
Chr6:16372870 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_000332.3(ATXN1):c.-298-13407G>A single nucleotide variant Lung cancer [RCV000096681] Chr6:16499516 [GRCh38]
Chr6:16499747 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_000332.3(ATXN1):c.-488-7608A>T single nucleotide variant Lung cancer [RCV000096690] Chr6:16593515 [GRCh38]
Chr6:16593746 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh38/hg38 6p24.1-22.3(chr6:13093117-22126024)x3 copy number gain See cases [RCV000051897] Chr6:13093117..22126024 [GRCh38]
Chr6:13093349..22126253 [GRCh37]
Chr6:13201335..22234232 [NCBI36]
Chr6:6p24.1-22.3		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p23-22.3(chr6:13684282-16645068)x1 copy number loss See cases [RCV000052179] Chr6:13684282..16645068 [GRCh38]
Chr6:13684514..16645299 [GRCh37]
Chr6:13792493..16753278 [NCBI36]
Chr6:6p23-22.3		 pathogenic
GRCh38/hg38 6p22.3(chr6:16447921-16825336)x3 copy number gain See cases [RCV000053341] Chr6:16447921..16825336 [GRCh38]
Chr6:16448152..16825567 [GRCh37]
Chr6:16556131..16933546 [NCBI36]
Chr6:6p22.3		 uncertain significance
NM_000332.3(ATXN1):c.1101C>T (p.Pro367=) single nucleotide variant Malignant melanoma [RCV000067209] Chr6:16327210 [GRCh38]
Chr6:16327441 [GRCh37]
Chr6:16435420 [NCBI36]
Chr6:6p22.3		 not provided
NM_000332.3(ATXN1):c.1536C>T (p.Ser512=) single nucleotide variant Malignant melanoma [RCV000061351] Chr6:16326775 [GRCh38]
Chr6:16327006 [GRCh37]
Chr6:16434985 [NCBI36]
Chr6:6p22.3		 not provided
NM_000332.3(ATXN1):c.1061A>G (p.His354Arg) single nucleotide variant Malignant melanoma [RCV000061352] Chr6:16327250 [GRCh38]
Chr6:16327481 [GRCh37]
Chr6:16435460 [NCBI36]
Chr6:6p22.3		 not provided
NM_000332.3(ATXN1):c.284C>T (p.Ser95Phe) single nucleotide variant Malignant melanoma [RCV000061353] Chr6:16328027 [GRCh38]
Chr6:16328258 [GRCh37]
Chr6:16436237 [NCBI36]
Chr6:6p22.3		 not provided
NM_001128164.2(ATXN1):c.927T>G (p.Ala309=) single nucleotide variant not provided [RCV003436929]|not specified [RCV000116476] Chr6:16327384 [GRCh38]
Chr6:16327615 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.1212A>G (p.Glu404=) single nucleotide variant not specified [RCV000116468] Chr6:16327099 [GRCh38]
Chr6:16327330 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.2257C>T (p.Pro753Ser) single nucleotide variant not specified [RCV000116469] Chr6:16306520 [GRCh38]
Chr6:16306751 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.474A>G (p.Ala158=) single nucleotide variant not provided [RCV001709487]|not specified [RCV000116470] Chr6:16327837 [GRCh38]
Chr6:16328068 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.633T>G (p.His211Gln) single nucleotide variant not specified [RCV000116471] Chr6:16327678 [GRCh38]
Chr6:16327909 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.639G>T (p.Gln213His) single nucleotide variant not specified [RCV000116472] Chr6:16327672 [GRCh38]
Chr6:16327903 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.645G>T (p.Gln215His) single nucleotide variant not specified [RCV000116473] Chr6:16327666 [GRCh38]
Chr6:16327897 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.675G>C (p.Gln225His) single nucleotide variant not specified [RCV000116474] Chr6:16327636 [GRCh38]
Chr6:16327867 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.927T>C (p.Ala309=) single nucleotide variant not specified [RCV000116475] Chr6:16327384 [GRCh38]
Chr6:16327615 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup) microsatellite ATXN1-related condition [RCV003977554]|Spinocerebellar ataxia type 1 [RCV000625420]|not specified [RCV000202699] Chr6:16327684..16327685 [GRCh38]
Chr6:16327915..16327916 [GRCh37]
Chr6:6p22.3		 pathogenic|benign|likely benign
GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1 copy number loss See cases [RCV000137275] Chr6:14730556..17554091 [GRCh38]
Chr6:14730787..17554322 [GRCh37]
Chr6:14838766..17662301 [NCBI36]
Chr6:6p23-22.3		 likely pathogenic
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3 copy number gain See cases [RCV000140810] Chr6:14958760..18580908 [GRCh38]
Chr6:14958991..18581139 [GRCh37]
Chr6:15066970..18689118 [NCBI36]
Chr6:6p23-22.3		 uncertain significance
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
NM_001128164.2(ATXN1):c.624G>T (p.Gln208His) single nucleotide variant not specified [RCV000192324] Chr6:16327687 [GRCh38]
Chr6:16327918 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.636G>T (p.Gln212His) single nucleotide variant not specified [RCV000192823] Chr6:16327675 [GRCh38]
Chr6:16327906 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His) single nucleotide variant Spinocerebellar ataxia type 1 [RCV001262838]|not specified [RCV000193645] Chr6:16327690 [GRCh38]
Chr6:16327921 [GRCh37]
Chr6:6p22.3		 likely benign|uncertain significance
NM_001128164.2(ATXN1):c.630G>T (p.Gln210His) single nucleotide variant not specified [RCV000193766] Chr6:16327681 [GRCh38]
Chr6:16327912 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.633_635del (p.His211del) deletion not specified [RCV000194795] Chr6:16327676..16327678 [GRCh38]
Chr6:16327907..16327909 [GRCh37]
Chr6:6p22.3		 pathogenic|uncertain significance
NM_001128164.2(ATXN1):c.588GCA[12] (p.Gln208del) microsatellite ATXN1-related condition [RCV003982939]|not provided [RCV001357459]|not specified [RCV000194686] Chr6:16327685..16327687 [GRCh38]
Chr6:16327916..16327918 [GRCh37]
Chr6:6p22.3		 pathogenic|likely benign|uncertain significance
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001128164.2(ATXN1):c.636GCA[12] (p.Gln224_Gln225del) microsatellite ATXN1-related condition [RCV003966209]|not provided [RCV001573582] Chr6:16327634..16327639 [GRCh38]
Chr6:16327865..16327870 [GRCh37]
Chr6:6p22.3		 pathogenic|benign|likely benign
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)x3 copy number gain See cases [RCV000447409] Chr6:8269414..17402660 [GRCh37]
Chr6:6p24.3-22.3		 likely pathogenic
GRCh37/hg19 6p22.3(chr6:16568082-17047673)x3 copy number gain See cases [RCV000445971] Chr6:16568082..17047673 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:16348584-16559316)x1 copy number loss See cases [RCV000448848] Chr6:16348584..16559316 [GRCh37]
Chr6:6p22.3		 likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.3(chr6:16350981-16598133)x1 copy number loss See cases [RCV000510760] Chr6:16350981..16598133 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.1843G>A (p.Val615Ile) single nucleotide variant Inborn genetic diseases [RCV003256652] Chr6:16326468 [GRCh38]
Chr6:16326699 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.603G>T (p.Gln201His) single nucleotide variant Inborn genetic diseases [RCV003284913] Chr6:16327708 [GRCh38]
Chr6:16327939 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1651C>T (p.Gln551Ter) single nucleotide variant not provided [RCV000524006] Chr6:16326660 [GRCh38]
Chr6:16326891 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.606G>T (p.Gln202His) single nucleotide variant Inborn genetic diseases [RCV003277855] Chr6:16327705 [GRCh38]
Chr6:16327936 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1144G>A (p.Val382Met) single nucleotide variant Inborn genetic diseases [RCV003257738] Chr6:16327167 [GRCh38]
Chr6:16327398 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.638_639insTCA (p.Gln212_Gln213insHis) insertion ATXN1-related condition [RCV003919808] Chr6:16327672..16327673 [GRCh38]
Chr6:16327903..16327904 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1 copy number loss See cases [RCV000512269] Chr6:13693852..24225515 [GRCh37]
Chr6:6p23-22.3		 pathogenic
NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val) single nucleotide variant Spinocerebellar ataxia type 1 [RCV000625149]|not specified [RCV000736061] Chr6:16306627 [GRCh38]
Chr6:16306858 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup) microsatellite ATXN1-related condition [RCV003980212]|Spinocerebellar ataxia type 1 [RCV000625419]|not specified [RCV001702529] Chr6:16327633..16327634 [GRCh38]
Chr6:16327864..16327865 [GRCh37]
Chr6:6p22.3		 pathogenic|benign
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p22.3(chr6:16441703-16860111)x3 copy number gain not provided [RCV000682651] Chr6:16441703..16860111 [GRCh37]
Chr6:6p22.3		 likely benign|uncertain significance
Single allele duplication not provided [RCV000677919] Chr6:16469060..16755939 [GRCh37]
Chr6:6p22.3		 likely benign
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.3(chr6:16390939-16400090)x3 copy number gain not provided [RCV000745482] Chr6:16390939..16400090 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:16391575-16399407)x3 copy number gain not provided [RCV000745483] Chr6:16391575..16399407 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:16391575-16399680)x3 copy number gain not provided [RCV000745484] Chr6:16391575..16399680 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:16391575-16399841)x3 copy number gain not provided [RCV000745485] Chr6:16391575..16399841 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:16391575-16400090)x3 copy number gain not provided [RCV000745486] Chr6:16391575..16400090 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:16391928-16405720)x3 copy number gain not provided [RCV000745487] Chr6:16391928..16405720 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:16579372-16579733)x1 copy number loss not provided [RCV000745488] Chr6:16579372..16579733 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:16634454-16773382)x3 copy number gain not provided [RCV000745489] Chr6:16634454..16773382 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:16710750-16771465)x3 copy number gain not provided [RCV000745490] Chr6:16710750..16771465 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1 copy number loss not provided [RCV000848884] Chr6:13910125..22000204 [GRCh37]
Chr6:6p23-22.3		 pathogenic
GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3 copy number gain not provided [RCV000849796] Chr6:13248587..18083552 [GRCh37]
Chr6:6p24.1-22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1678G>A (p.Val560Met) single nucleotide variant not provided [RCV000998539] Chr6:16326633 [GRCh38]
Chr6:16326864 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p23-22.3(chr6:14715955-17223929)x3 copy number gain not provided [RCV000849040] Chr6:14715955..17223929 [GRCh37]
Chr6:6p23-22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:16441242-16871357)x3 copy number gain not provided [RCV000848558] Chr6:16441242..16871357 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser) single nucleotide variant Spinocerebellar ataxia type 1 [RCV001199336] Chr6:16326507 [GRCh38]
Chr6:16326738 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His) single nucleotide variant ATXN1-related condition [RCV003908443]|Inborn genetic diseases [RCV002559262]|Spinocerebellar ataxia type 1 [RCV001198089] Chr6:16327702 [GRCh38]
Chr6:16327933 [GRCh37]
Chr6:6p22.3		 likely benign|uncertain significance
GRCh37/hg19 6p22.3(chr6:16586453-16701334)x3 copy number gain not provided [RCV000845839] Chr6:16586453..16701334 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.2143G>A (p.Gly715Ser) single nucleotide variant Inborn genetic diseases [RCV002549094]|not provided [RCV000998538] Chr6:16306634 [GRCh38]
Chr6:16306865 [GRCh37]
Chr6:6p22.3		 likely benign|uncertain significance
NM_001128164.2(ATXN1):c.1405C>A (p.Gln469Lys) single nucleotide variant not provided [RCV003326185] Chr6:16326906 [GRCh38]
Chr6:16327137 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.140C>T (p.Pro47Leu) single nucleotide variant Inborn genetic diseases [RCV003241702] Chr6:16328171 [GRCh38]
Chr6:16328402 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1004G>A (p.Gly335Glu) single nucleotide variant Inborn genetic diseases [RCV003293827] Chr6:16327307 [GRCh38]
Chr6:16327538 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:16445707-16860111)x3 copy number gain not provided [RCV001005781] Chr6:16445707..16860111 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.556A>T (p.Ser186Cys) single nucleotide variant ATXN1-related condition [RCV003921352]|not provided [RCV001702258] Chr6:16327755 [GRCh38]
Chr6:16327986 [GRCh37]
Chr6:6p22.3		 benign|likely benign
GRCh37/hg19 6p22.3(chr6:16380586-16437689)x1 copy number loss not provided [RCV001005780] Chr6:16380586..16437689 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.1917+14G>T single nucleotide variant not provided [RCV001764872] Chr6:16326380 [GRCh38]
Chr6:16326611 [GRCh37]
Chr6:6p22.3		 benign
NM_001128164.2(ATXN1):c.1563G>C (p.Thr521=) single nucleotide variant Tip-toe gait [RCV001352904] Chr6:16326748 [GRCh38]
Chr6:16326979 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.95C>G (p.Thr32Ser) single nucleotide variant not provided [RCV001356166] Chr6:16328216 [GRCh38]
Chr6:16328447 [GRCh37]
Chr6:6p22.3		 benign|likely benign
NM_001128164.2(ATXN1):c.627T>G (p.His209Gln) single nucleotide variant ATXN1-related condition [RCV003973219]|not provided [RCV001358385] Chr6:16327684 [GRCh38]
Chr6:16327915 [GRCh37]
Chr6:6p22.3		 likely benign|uncertain significance
NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup) microsatellite not provided [RCV001572960]|not specified [RCV001529494] Chr6:16327633..16327634 [GRCh38]
Chr6:16327864..16327865 [GRCh37]
Chr6:6p22.3		 pathogenic|benign|likely benign
NM_001128164.2(ATXN1):c.1068C>A (p.Tyr356Ter) single nucleotide variant not provided [RCV001758574] Chr6:16327243 [GRCh38]
Chr6:16327474 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:16572172-17047673)x3 copy number gain not provided [RCV001836558] Chr6:16572172..17047673 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:16348584-16559316) copy number loss not specified [RCV002053557] Chr6:16348584..16559316 [GRCh37]
Chr6:6p22.3		 likely pathogenic
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660) copy number gain not specified [RCV002053552] Chr6:8269414..17402660 [GRCh37]
Chr6:6p24.3-22.3		 likely pathogenic
GRCh37/hg19 6p22.3(chr6:16568082-17047673) copy number gain not specified [RCV002053559] Chr6:16568082..17047673 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:16441703-16871298)x3 copy number gain not provided [RCV001829075] Chr6:16441703..16871298 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1575C>T (p.Thr525=) single nucleotide variant not provided [RCV002214379] Chr6:16326736 [GRCh38]
Chr6:16326967 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys) single nucleotide variant Spinocerebellar ataxia type 1 [RCV003485770]|Tip-toe gait [RCV002225250]|not provided [RCV003434454] Chr6:16327539 [GRCh38]
Chr6:16327770 [GRCh37]
Chr6:6p22.3		 likely pathogenic|benign
NM_001128164.2(ATXN1):c.2076del (p.Asn692fs) deletion not provided [RCV002293637] Chr6:16306701 [GRCh38]
Chr6:16306932 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.636GCA[13] (p.Gln225del) microsatellite Hepatocellular carcinoma [RCV002302710] Chr6:16327634..16327636 [GRCh38]
Chr6:16327865..16327867 [GRCh37]
Chr6:6p22.3		 pathogenic
NM_001128164.2(ATXN1):c.636GCA[17] (p.Gln225_His226insGlnGlnGln) microsatellite Hepatocellular carcinoma [RCV002302712] Chr6:16327633..16327634 [GRCh38]
Chr6:16327864..16327865 [GRCh37]
Chr6:6p22.3		 pathogenic
NM_001128164.2(ATXN1):c.636GCA[25] (p.Gln225_His226insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) microsatellite Hepatocellular carcinoma [RCV002302715] Chr6:16327633..16327634 [GRCh38]
Chr6:16327864..16327865 [GRCh37]
Chr6:6p22.3		 pathogenic
NM_001128164.2(ATXN1):c.-160-39282_-160-39238del deletion Schizophrenia [RCV002463487] Chr6:16367708..16367752 [GRCh38]
Chr6:16367939..16367983 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.627_629del (p.His209del) deletion Hepatocellular carcinoma [RCV002302684] Chr6:16327682..16327684 [GRCh38]
Chr6:16327913..16327915 [GRCh37]
Chr6:6p22.3		 pathogenic
NM_001128164.2(ATXN1):c.588GCA[15] (p.Gln208_His209insGlnGln) microsatellite ATXN1-related condition [RCV003974128] Chr6:16327684..16327685 [GRCh38]
Chr6:16327915..16327916 [GRCh37]
Chr6:6p22.3		 pathogenic|likely benign
GRCh37/hg19 6p22.3(chr6:16445708-16860111)x3 copy number gain not provided [RCV002475744] Chr6:16445708..16860111 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1 copy number loss not provided [RCV002475759] Chr6:12005630..22849647 [GRCh37]
Chr6:6p24.1-22.3		 pathogenic
NM_001128164.2(ATXN1):c.1112G>A (p.Ser371Asn) single nucleotide variant Inborn genetic diseases [RCV002840232] Chr6:16327199 [GRCh38]
Chr6:16327430 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.612G>T (p.Gln204His) single nucleotide variant Inborn genetic diseases [RCV002773207] Chr6:16327699 [GRCh38]
Chr6:16327930 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.512G>A (p.Arg171His) single nucleotide variant Inborn genetic diseases [RCV002752312] Chr6:16327799 [GRCh38]
Chr6:16328030 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1174G>A (p.Ala392Thr) single nucleotide variant Inborn genetic diseases [RCV002688742] Chr6:16327137 [GRCh38]
Chr6:16327368 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.772G>A (p.Gly258Ser) single nucleotide variant Inborn genetic diseases [RCV002793634] Chr6:16327539 [GRCh38]
Chr6:16327770 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.618G>T (p.Gln206His) single nucleotide variant Inborn genetic diseases [RCV002687967] Chr6:16327693 [GRCh38]
Chr6:16327924 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001128164.2(ATXN1):c.715C>A (p.Pro239Thr) single nucleotide variant Inborn genetic diseases [RCV002759243] Chr6:16327596 [GRCh38]
Chr6:16327827 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.2170G>A (p.Ala724Thr) single nucleotide variant Inborn genetic diseases [RCV002823155] Chr6:16306607 [GRCh38]
Chr6:16306838 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1127C>T (p.Ser376Leu) single nucleotide variant Inborn genetic diseases [RCV002661746] Chr6:16327184 [GRCh38]
Chr6:16327415 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.314C>T (p.Ala105Val) single nucleotide variant Inborn genetic diseases [RCV002738266] Chr6:16327997 [GRCh38]
Chr6:16328228 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.2339G>A (p.Arg780His) single nucleotide variant Inborn genetic diseases [RCV002873872] Chr6:16306438 [GRCh38]
Chr6:16306669 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.2420T>C (p.Ile807Thr) single nucleotide variant Inborn genetic diseases [RCV002893205] Chr6:16306357 [GRCh38]
Chr6:16306588 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1694C>T (p.Ala565Val) single nucleotide variant Inborn genetic diseases [RCV002697896] Chr6:16326617 [GRCh38]
Chr6:16326848 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.853C>G (p.Pro285Ala) single nucleotide variant Inborn genetic diseases [RCV002697155] Chr6:16327458 [GRCh38]
Chr6:16327689 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.572C>T (p.Pro191Leu) single nucleotide variant Inborn genetic diseases [RCV002812285] Chr6:16327739 [GRCh38]
Chr6:16327970 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.274G>A (p.Ala92Thr) single nucleotide variant Inborn genetic diseases [RCV002960643] Chr6:16328037 [GRCh38]
Chr6:16328268 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1033G>C (p.Gly345Arg) single nucleotide variant Inborn genetic diseases [RCV002855891] Chr6:16327278 [GRCh38]
Chr6:16327509 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.2417G>T (p.Cys806Phe) single nucleotide variant Inborn genetic diseases [RCV002959917] Chr6:16306360 [GRCh38]
Chr6:16306591 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.2437G>A (p.Val813Ile) single nucleotide variant ATXN1-related condition [RCV003963730]|Inborn genetic diseases [RCV002678836] Chr6:16306340 [GRCh38]
Chr6:16306571 [GRCh37]
Chr6:6p22.3		 likely benign|uncertain significance
NM_001128164.2(ATXN1):c.1073C>G (p.Ser358Cys) single nucleotide variant Inborn genetic diseases [RCV002679294] Chr6:16327238 [GRCh38]
Chr6:16327469 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1198G>A (p.Ala400Thr) single nucleotide variant Inborn genetic diseases [RCV003379244] Chr6:16327113 [GRCh38]
Chr6:16327344 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.406A>G (p.Ser136Gly) single nucleotide variant Inborn genetic diseases [RCV003366718] Chr6:16327905 [GRCh38]
Chr6:16328136 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1009C>T (p.Pro337Ser) single nucleotide variant Inborn genetic diseases [RCV003367289] Chr6:16327302 [GRCh38]
Chr6:16327533 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.719C>A (p.Pro240Gln) single nucleotide variant Inborn genetic diseases [RCV003366234] Chr6:16327592 [GRCh38]
Chr6:16327823 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.1695G>A (p.Ala565=) single nucleotide variant not provided [RCV003436516] Chr6:16326616 [GRCh38]
Chr6:16326847 [GRCh37]
Chr6:6p22.3		 benign
NM_001128164.2(ATXN1):c.638_639insTCAGCAGCA (p.Gln212_Gln213insHisGlnGln) microsatellite not provided [RCV003436519] Chr6:16327672..16327673 [GRCh38]
Chr6:16327903..16327904 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.627_644del (p.His209_Gln214del) deletion not provided [RCV003436518] Chr6:16327667..16327684 [GRCh38]
Chr6:16327898..16327915 [GRCh37]
Chr6:6p22.3		 benign
NM_001128164.2(ATXN1):c.267G>T (p.Pro89=) single nucleotide variant not provided [RCV003436521] Chr6:16328044 [GRCh38]
Chr6:16328275 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.2214C>T (p.Leu738=) single nucleotide variant not provided [RCV003436515] Chr6:16306563 [GRCh38]
Chr6:16306794 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.623_624insTCA (p.Gln207_Gln208insHis) insertion not provided [RCV003436520] Chr6:16327687..16327688 [GRCh38]
Chr6:16327918..16327919 [GRCh37]
Chr6:6p22.3		 benign
NM_001128164.2(ATXN1):c.995G>A (p.Arg332Gln) single nucleotide variant not provided [RCV003436517] Chr6:16327316 [GRCh38]
Chr6:16327547 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val) single nucleotide variant Spinocerebellar ataxia type 1 [RCV003486023] Chr6:16326809 [GRCh38]
Chr6:16327040 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1 copy number loss not specified [RCV003986623] Chr6:12872219..17276508 [GRCh37]
Chr6:6p24.1-22.3		 pathogenic
NM_001128164.2(ATXN1):c.1871C>T (p.Pro624Leu) single nucleotide variant ATXN1-related condition [RCV003939379] Chr6:16326440 [GRCh38]
Chr6:16326671 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.1635A>G (p.Pro545=) single nucleotide variant ATXN1-related condition [RCV003892311] Chr6:16326676 [GRCh38]
Chr6:16326907 [GRCh37]
Chr6:6p22.3		 likely benign
GRCh37/hg19 6p22.3(chr6:16445707-16860111)x3 copy number gain not specified [RCV003986618] Chr6:16445707..16860111 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_001128164.2(ATXN1):c.627TCAGCA[3] (p.Gln212_Gln213insHisGln) microsatellite ATXN1-related condition [RCV003949520] Chr6:16327672..16327673 [GRCh38]
Chr6:16327903..16327904 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.588GCA[17] (p.Gln208_His209insGlnGlnGlnGln) microsatellite ATXN1-related condition [RCV003984593] Chr6:16327684..16327685 [GRCh38]
Chr6:16327915..16327916 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.158G>A (p.Arg53Gln) single nucleotide variant ATXN1-related condition [RCV003927270] Chr6:16328153 [GRCh38]
Chr6:16328384 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.1503G>A (p.Ala501=) single nucleotide variant ATXN1-related condition [RCV003964580] Chr6:16326808 [GRCh38]
Chr6:16327039 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.588GCA[16] (p.Gln208_His209insGlnGlnGln) microsatellite ATXN1-related condition [RCV003974334] Chr6:16327684..16327685 [GRCh38]
Chr6:16327915..16327916 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.644_645insTCA (p.Gln214_Gln215insHis) insertion ATXN1-related condition [RCV003932221] Chr6:16327666..16327667 [GRCh38]
Chr6:16327897..16327898 [GRCh37]
Chr6:6p22.3		 benign
NM_001128164.2(ATXN1):c.627TCAGCA[1] (p.209HQ[1]) microsatellite ATXN1-related condition [RCV003981308] Chr6:16327673..16327678 [GRCh38]
Chr6:16327904..16327909 [GRCh37]
Chr6:6p22.3		 benign
NM_001128164.2(ATXN1):c.302C>T (p.Thr101Met) single nucleotide variant ATXN1-related condition [RCV003959593] Chr6:16328009 [GRCh38]
Chr6:16328240 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.1128G>A (p.Ser376=) single nucleotide variant not provided [RCV003885823] Chr6:16327183 [GRCh38]
Chr6:16327414 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.1170G>A (p.Thr390=) single nucleotide variant ATXN1-related condition [RCV003904234] Chr6:16327141 [GRCh38]
Chr6:16327372 [GRCh37]
Chr6:6p22.3		 benign
NM_001128164.2(ATXN1):c.647_648insTCA (p.Gln215_Gln216insHis) insertion ATXN1-related condition [RCV003904768] Chr6:16327663..16327664 [GRCh38]
Chr6:16327894..16327895 [GRCh37]
Chr6:6p22.3		 benign
NM_001128164.2(ATXN1):c.318C>T (p.Tyr106=) single nucleotide variant ATXN1-related condition [RCV003971404] Chr6:16327993 [GRCh38]
Chr6:16328224 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.630_632dup (p.Gln210_His211insGln) duplication ATXN1-related condition [RCV003956964] Chr6:16327678..16327679 [GRCh38]
Chr6:16327909..16327910 [GRCh37]
Chr6:6p22.3		 benign
NM_001128164.2(ATXN1):c.570G>A (p.Thr190=) single nucleotide variant ATXN1-related condition [RCV003949533] Chr6:16327741 [GRCh38]
Chr6:16327972 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.1024C>T (p.Leu342=) single nucleotide variant ATXN1-related condition [RCV003949870] Chr6:16327287 [GRCh38]
Chr6:16327518 [GRCh37]
Chr6:6p22.3		 likely benign
NM_001128164.2(ATXN1):c.2031A>G (p.Ser677=) single nucleotide variant ATXN1-related condition [RCV003914179] Chr6:16306746 [GRCh38]
Chr6:16306977 [GRCh37]
Chr6:6p22.3		 benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18758459
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350
MIR19Ahsa-miR-19a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18758459
MIR19Ahsa-miR-19a-3pMirecordsexternal_infoNANA18758459
MIR19B2hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18758459
MIR19B1hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18758459
MIR130Ahsa-miR-130a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18758459
MIR130Ahsa-miR-130a-5pMirecordsexternal_infoNANA18758459
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18758459
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350

Predicted Target Of
Summary Value
Count of predictions:6571
Count of miRNA genes:1324
Interacting mature miRNAs:1692
Transcripts:ENST00000244769, ENST00000436367, ENST00000467008, ENST00000473388, ENST00000479680, ENST00000483591, ENST00000483954, ENST00000492857, ENST00000495178, ENST00000498374
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D6S274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,746,146 - 16,746,323UniSTSGRCh37
GRCh37616,746,144 - 16,746,338UniSTSGRCh37
Build 36616,854,125 - 16,854,302RGDNCBI36
Celera617,983,987 - 17,984,160RGD
Celera617,983,985 - 17,984,175UniSTS
Cytogenetic Map6p23UniSTS
HuRef616,692,354 - 16,692,527UniSTS
HuRef616,692,352 - 16,692,542UniSTS
Marshfield Genetic Map632.62RGD
Genethon Genetic Map632.4UniSTS
TNG Radiation Hybrid Map69549.0UniSTS
deCODE Assembly Map637.2UniSTS
Whitehead-RH Map695.8UniSTS
NCBI RH Map6239.4UniSTS
D6S288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,390,837 - 16,391,068UniSTSGRCh37
GRCh37616,390,821 - 16,391,054UniSTSGRCh37
Build 36616,498,816 - 16,499,047RGDNCBI36
Celera617,628,642 - 17,628,873RGD
Celera617,628,626 - 17,628,859UniSTS
Cytogenetic Map6p23UniSTS
HuRef616,338,057 - 16,338,290UniSTS
HuRef616,338,073 - 16,338,304UniSTS
Marshfield Genetic Map631.01RGD
Genethon Genetic Map630.8UniSTS
TNG Radiation Hybrid Map69380.0UniSTS
deCODE Assembly Map635.99UniSTS
GeneMap99-GB4 RH Map665.64UniSTS
NCBI RH Map6151.6UniSTS
GeneMap99-G3 RH Map61017.0UniSTS
STS-X79204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,299,645 - 16,299,767UniSTSGRCh37
Build 36616,407,624 - 16,407,746RGDNCBI36
Celera617,537,464 - 17,537,586RGD
Cytogenetic Map6p23UniSTS
HuRef616,246,943 - 16,247,065UniSTS
GeneMap99-GB4 RH Map660.1UniSTS
NCBI RH Map6151.0UniSTS
WI-9349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,303,895 - 16,303,999UniSTSGRCh37
Build 36616,411,874 - 16,411,978RGDNCBI36
Celera617,541,714 - 17,541,818RGD
Cytogenetic Map6p23UniSTS
HuRef616,251,193 - 16,251,297UniSTS
GeneMap99-GB4 RH Map662.83UniSTS
Whitehead-YAC Contig Map6 UniSTS
WI-16958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,471,619 - 16,471,745UniSTSGRCh37
Build 36616,579,598 - 16,579,724RGDNCBI36
Celera617,709,419 - 17,709,545RGD
Cytogenetic Map6p23UniSTS
HuRef616,419,282 - 16,419,408UniSTS
GeneMap99-GB4 RH Map664.63UniSTS
Whitehead-RH Map683.0UniSTS
1216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,624,057 - 16,624,134UniSTSGRCh37
Build 36616,732,036 - 16,732,113RGDNCBI36
Celera617,861,896 - 17,861,973RGD
Cytogenetic Map6p23UniSTS
HuRef616,570,255 - 16,570,332UniSTS
GeneMap99-GB4 RH Map665.95UniSTS
SHGC-33945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,758,091 - 16,758,240UniSTSGRCh37
Build 36616,866,070 - 16,866,219RGDNCBI36
Celera617,995,932 - 17,996,081RGD
Cytogenetic Map6p23UniSTS
HuRef616,704,299 - 16,704,448UniSTS
Whitehead-RH Map61.4UniSTS
NCBI RH Map64.3UniSTS
GeneMap99-G3 RH Map61017.0UniSTS
RH35931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,758,100 - 16,758,226UniSTSGRCh37
Build 36616,866,079 - 16,866,205RGDNCBI36
Celera617,995,941 - 17,996,067RGD
Cytogenetic Map6p23UniSTS
HuRef616,704,308 - 16,704,434UniSTS
SHGC-79186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,318,681 - 16,318,978UniSTSGRCh37
Build 36616,426,660 - 16,426,957RGDNCBI36
Celera617,556,498 - 17,556,795RGD
Cytogenetic Map6p23UniSTS
HuRef616,265,977 - 16,266,274UniSTS
TNG Radiation Hybrid Map69412.0UniSTS
RH118967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,705,143 - 16,705,417UniSTSGRCh37
Build 36616,813,122 - 16,813,396RGDNCBI36
Celera617,942,990 - 17,943,264RGD
Cytogenetic Map6p23UniSTS
HuRef616,651,353 - 16,651,627UniSTS
TNG Radiation Hybrid Map69569.0UniSTS
G62333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,587,681 - 16,587,863UniSTSGRCh37
Build 36616,695,660 - 16,695,842RGDNCBI36
Celera617,825,472 - 17,825,654RGD
Cytogenetic Map6p23UniSTS
HuRef616,534,980 - 16,535,162UniSTS
D6S324E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,762,767 - 16,762,873UniSTSGRCh37
Build 36616,870,746 - 16,870,852RGDNCBI36
Celera618,000,607 - 18,000,713RGD
Cytogenetic Map6p23UniSTS
HuRef616,708,501 - 16,708,607UniSTS
D6S1354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,469,572 - 16,469,719UniSTSGRCh37
Build 36616,577,551 - 16,577,698RGDNCBI36
Celera617,707,373 - 17,707,520RGD
Cytogenetic Map6p23UniSTS
HuRef616,417,236 - 16,417,383UniSTS
GDB:216047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,327,779 - 16,327,976UniSTSGRCh37
Build 36616,435,758 - 16,435,955RGDNCBI36
Celera617,565,596 - 17,565,794RGD
Cytogenetic Map6p23UniSTS
HuRef616,275,075 - 16,275,284UniSTS
GDB:216054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,327,785 - 16,327,996UniSTSGRCh37
Build 36616,435,764 - 16,435,975RGDNCBI36
Celera617,565,602 - 17,565,814RGD
Cytogenetic Map6p23UniSTS
HuRef616,275,081 - 16,275,304UniSTS
GDB:681830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,327,837 - 16,327,979UniSTSGRCh37
Build 36616,435,816 - 16,435,958RGDNCBI36
Celera617,565,654 - 17,565,797RGD
Cytogenetic Map6p23UniSTS
HuRef616,275,133 - 16,275,287UniSTS
SHGC-146680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,689,065 - 16,689,395UniSTSGRCh37
Build 36616,797,044 - 16,797,374RGDNCBI36
Celera617,926,912 - 17,927,242RGD
Cytogenetic Map6p23UniSTS
HuRef616,635,275 - 16,635,605UniSTS
TNG Radiation Hybrid Map69581.0UniSTS
PMC109045P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,327,850 - 16,327,971UniSTSGRCh37
Build 36616,435,829 - 16,435,950RGDNCBI36
Celera617,565,668 - 17,565,789RGD
Cytogenetic Map6p23UniSTS
HuRef616,275,146 - 16,275,279UniSTS
SCA1_796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,301,242 - 16,302,116UniSTSGRCh37
Build 36616,409,221 - 16,410,095RGDNCBI36
Celera617,539,061 - 17,539,935RGD
HuRef616,248,540 - 16,249,414UniSTS
SGC30752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,324,194 - 16,324,321UniSTSGRCh37
Build 36616,432,173 - 16,432,300RGDNCBI36
Celera617,562,011 - 17,562,138RGD
Cytogenetic Map6p23UniSTS
HuRef616,271,490 - 16,271,617UniSTS
GeneMap99-GB4 RH Map664.06UniSTS
Whitehead-RH Map683.1UniSTS
STS-AA010260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,545,680 - 16,545,884UniSTSGRCh37
Build 36616,653,659 - 16,653,863RGDNCBI36
Celera617,783,456 - 17,783,660RGD
Cytogenetic Map6p23UniSTS
HuRef616,492,962 - 16,493,166UniSTS
GeneMap99-GB4 RH Map656.45UniSTS
NCBI RH Map6130.6UniSTS
RH46829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,471,640 - 16,471,825UniSTSGRCh37
Build 36616,579,619 - 16,579,804RGDNCBI36
Celera617,709,440 - 17,709,625RGD
Cytogenetic Map6p23UniSTS
HuRef616,419,303 - 16,419,488UniSTS
GeneMap99-GB4 RH Map665.53UniSTS
RH71007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,327,848 - 16,327,978UniSTSGRCh37
Build 36616,435,827 - 16,435,957RGDNCBI36
Celera617,565,665 - 17,565,796RGD
Cytogenetic Map6p23UniSTS
HuRef616,275,144 - 16,275,286UniSTS
GeneMap99-GB4 RH Map660.1UniSTS
NCBI RH Map6151.0UniSTS
WI-19222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,302,397 - 16,302,657UniSTSGRCh37
Build 36616,410,376 - 16,410,636RGDNCBI36
Celera617,540,216 - 17,540,476RGD
Cytogenetic Map6p23UniSTS
HuRef616,249,695 - 16,249,955UniSTS
GeneMap99-GB4 RH Map665.64UniSTS
Whitehead-RH Map681.3UniSTS
NCBI RH Map6151.6UniSTS
D6S1461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,653,918 - 16,654,018UniSTSGRCh37
Build 36616,761,897 - 16,761,997RGDNCBI36
Celera617,891,757 - 17,891,857RGD
Cytogenetic Map6p23UniSTS
HuRef616,600,116 - 16,600,216UniSTS
Whitehead-YAC Contig Map6 UniSTS
D6S2131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,692,856 - 16,693,036UniSTSGRCh37
Build 36616,800,835 - 16,801,015RGDNCBI36
Celera617,930,703 - 17,930,883RGD
Cytogenetic Map6p23UniSTS
HuRef616,639,066 - 16,639,246UniSTS
Stanford-G3 RH Map6885.0UniSTS
G15977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,302,000 - 16,302,248UniSTSGRCh37
Build 36616,409,979 - 16,410,227RGDNCBI36
Celera617,539,819 - 17,540,067RGD
Cytogenetic Map6p23UniSTS
HuRef616,249,298 - 16,249,546UniSTS
D6S274  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p23UniSTS
Marshfield Genetic Map632.62UniSTS
Genethon Genetic Map632.4UniSTS
deCODE Assembly Map637.2UniSTS
Whitehead-RH Map695.8UniSTS
NCBI RH Map6239.4UniSTS
D6S288  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p23UniSTS
Marshfield Genetic Map631.01UniSTS
Genethon Genetic Map630.8UniSTS
deCODE Assembly Map635.99UniSTS
GeneMap99-GB4 RH Map665.64UniSTS
NCBI RH Map6151.6UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 580 1113 467 26 604 25 846 249 1031 70 544 743 14 1 38 735 3 2
Low 1854 1858 1256 596 1303 438 3507 1930 2703 347 905 845 160 1166 2053 1
Below cutoff 5 20 3 2 26 2 4 15 1 6 13 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001357857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_152111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_152112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_152113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_152114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA774255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL009031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF666802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF670717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP365416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ016046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX505133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB291268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX901140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N52856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000244769   ⟹   ENSP00000244769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,299,112 - 16,761,456 (-)Ensembl
RefSeq Acc Id: ENST00000436367   ⟹   ENSP00000416360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,299,112 - 16,761,460 (-)Ensembl
RefSeq Acc Id: ENST00000467008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,736,851 - 16,761,476 (-)Ensembl
RefSeq Acc Id: ENST00000473388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,485,135 - 16,761,460 (-)Ensembl
RefSeq Acc Id: ENST00000479680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,752,962 - 16,761,479 (-)Ensembl
RefSeq Acc Id: ENST00000483591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,432,564 - 16,750,092 (-)Ensembl
RefSeq Acc Id: ENST00000483954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,666,968 - 16,761,456 (-)Ensembl
RefSeq Acc Id: ENST00000492857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,739,602 - 16,761,463 (-)Ensembl
RefSeq Acc Id: ENST00000495178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,614,975 - 16,753,308 (-)Ensembl
RefSeq Acc Id: ENST00000498374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,738,465 - 16,761,491 (-)Ensembl
RefSeq Acc Id: ENST00000642969   ⟹   ENSP00000493530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,327,724 - 16,328,281 (-)Ensembl
RefSeq Acc Id: ENST00000643828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,666,517 - 16,761,370 (-)Ensembl
RefSeq Acc Id: ENST00000646259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,614,979 - 16,761,370 (-)Ensembl
RefSeq Acc Id: ENST00000675689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,485,112 - 16,760,091 (-)Ensembl
RefSeq Acc Id: ENST00000676138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl616,735,454 - 16,760,102 (-)Ensembl
RefSeq Acc Id: NM_000332   ⟹   NP_000323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,299,112 - 16,761,460 (-)NCBI
GRCh37616,299,343 - 16,761,721 (-)ENTREZGENE
Build 36616,407,322 - 16,869,700 (-)NCBI Archive
HuRef616,246,641 - 16,707,370 (-)ENTREZGENE
CHM1_1616,301,995 - 16,764,390 (-)NCBI
T2T-CHM13v2.0616,171,667 - 16,634,155 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001128164   ⟹   NP_001121636
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,299,112 - 16,761,460 (-)NCBI
GRCh37616,299,343 - 16,761,721 (-)ENTREZGENE
HuRef616,246,641 - 16,707,370 (-)ENTREZGENE
CHM1_1616,301,995 - 16,764,390 (-)NCBI
T2T-CHM13v2.0616,171,667 - 16,634,155 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001357857   ⟹   NP_001344786
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,299,112 - 16,761,460 (-)NCBI
T2T-CHM13v2.0616,171,667 - 16,634,155 (-)NCBI
Sequence:
RefSeq Acc Id: NR_152111
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,734,947 - 16,761,460 (-)NCBI
T2T-CHM13v2.0616,607,648 - 16,634,155 (-)NCBI
Sequence:
RefSeq Acc Id: NR_152112
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,734,947 - 16,761,460 (-)NCBI
T2T-CHM13v2.0616,607,648 - 16,634,155 (-)NCBI
Sequence:
RefSeq Acc Id: NR_152113
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,734,947 - 16,760,184 (-)NCBI
T2T-CHM13v2.0616,607,648 - 16,632,879 (-)NCBI
Sequence:
RefSeq Acc Id: NR_152114
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,734,947 - 16,760,184 (-)NCBI
T2T-CHM13v2.0616,607,648 - 16,632,879 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001121636   ⟸   NM_001128164
- Peptide Label: isoform ATXN1
- UniProtKB: Q9UJG2 (UniProtKB/Swiss-Prot),   Q17S02 (UniProtKB/Swiss-Prot),   Q9Y4J1 (UniProtKB/Swiss-Prot),   P54253 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000323   ⟸   NM_000332
- Peptide Label: isoform ATXN1
- UniProtKB: Q9UJG2 (UniProtKB/Swiss-Prot),   Q17S02 (UniProtKB/Swiss-Prot),   Q9Y4J1 (UniProtKB/Swiss-Prot),   P54253 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001344786   ⟸   NM_001357857
- Peptide Label: isoform Alt-ATXN1
- UniProtKB: A0A2R8YCF3 (UniProtKB/TrEMBL),   L0EPB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000244769   ⟸   ENST00000244769
RefSeq Acc Id: ENSP00000493530   ⟸   ENST00000642969
RefSeq Acc Id: ENSP00000416360   ⟸   ENST00000436367
Protein Domains
AXH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P54253-F1-model_v2 AlphaFold P54253 1-815 view protein structure

Promoters
RGD ID:6872114
Promoter ID:EPDNEW_H9222
Type:initiation region
Name:ATXN1_1
Description:ataxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9223  EPDNEW_H9224  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,761,454 - 16,761,514EPDNEW
RGD ID:6872116
Promoter ID:EPDNEW_H9223
Type:initiation region
Name:ATXN1_3
Description:ataxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9222  EPDNEW_H9224  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,761,579 - 16,761,639EPDNEW
RGD ID:6872122
Promoter ID:EPDNEW_H9224
Type:multiple initiation site
Name:ATXN1_2
Description:ataxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9222  EPDNEW_H9223  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38616,762,831 - 16,762,891EPDNEW
RGD ID:6812903
Promoter ID:HG_ACW:67489
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   NB4
Transcripts:ATXN1.HAPR07,   ATXN1.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36616,868,049 - 16,868,549 (-)MPROMDB
RGD ID:6804676
Promoter ID:HG_KWN:52416
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000244769,   NM_000332,   NM_001128164,   OTTHUMT00000329716,   OTTHUMT00000329718,   OTTHUMT00000329719,   OTTHUMT00000329721,   OTTHUMT00000329722,   OTTHUMT00000329724,   UC003NBV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36616,869,591 - 16,870,792 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10548 AgrOrtholog
COSMIC ATXN1 COSMIC
Ensembl Genes ENSG00000124788 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000244769 ENTREZGENE
  ENST00000244769.8 UniProtKB/Swiss-Prot
  ENST00000436367 ENTREZGENE
  ENST00000436367.6 UniProtKB/Swiss-Prot
  ENST00000642969 ENTREZGENE
  ENST00000642969.1 UniProtKB/TrEMBL
  ENST00000676138 ENTREZGENE
GTEx ENSG00000124788 GTEx
HGNC ID HGNC:10548 ENTREZGENE
Human Proteome Map ATXN1 Human Proteome Map
InterPro Ataxin-1_N UniProtKB/Swiss-Prot
  ATAXIN1-like UniProtKB/Swiss-Prot
  Ataxin_AXH_dom UniProtKB/Swiss-Prot
  Ataxin_AXH_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:6310 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6310 ENTREZGENE
OMIM 601556 OMIM
PANTHER PTHR13392 UniProtKB/Swiss-Prot
  PTHR13392:SF5 UniProtKB/Swiss-Prot
Pfam ATXN-1_C UniProtKB/Swiss-Prot
  AXH UniProtKB/Swiss-Prot
PharmGKB PA34958 PharmGKB
PROSITE AXH UniProtKB/Swiss-Prot
SMART AXH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF102031 UniProtKB/Swiss-Prot
UniProt A0A2R8YCF3 ENTREZGENE, UniProtKB/TrEMBL
  ATX1_HUMAN UniProtKB/Swiss-Prot
  L0EPB8 ENTREZGENE, UniProtKB/TrEMBL
  P54253 ENTREZGENE
  Q17S02 ENTREZGENE
  Q96C81_HUMAN UniProtKB/TrEMBL
  Q96FF1_HUMAN UniProtKB/TrEMBL
  Q9UJG2 ENTREZGENE
  Q9Y4J1 ENTREZGENE
UniProt Secondary Q17S02 UniProtKB/Swiss-Prot
  Q9UJG2 UniProtKB/Swiss-Prot
  Q9Y4J1 UniProtKB/Swiss-Prot