ATXN7 (ataxin 7) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: ATXN7 (ataxin 7) Homo sapiens
Analyze
Symbol: ATXN7
Name: ataxin 7
RGD ID: 1350255
HGNC Page HGNC:10560
Description: Predicted to enable chromatin binding activity. Involved in microtubule cytoskeleton organization; negative regulation of microtubule depolymerization; and regulation of transcription by RNA polymerase II. Located in cytosol; microtubule cytoskeleton; and nucleoplasm. Implicated in spinocerebellar ataxia type 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADCAII; ataxin-7; Autosomal dominant cerebellar ataxia with retinal degeneration; FLJ17787; OPCA3; SAGA associated factor 73 kDa homolog; SCA7; SGF73; spinocerebellar ataxia type 7 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
GRCh38363,863,144 - 64,003,462 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl363,863,155 - 64,003,462 (+)EnsemblGRCh38hg38GRCh38
GRCh37363,848,820 - 63,989,138 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36363,825,273 - 63,961,367 (+)NCBINCBI36Build 36hg18NCBI36
Build 34363,825,272 - 63,961,367NCBI
Celera363,866,997 - 64,005,909 (+)NCBICelera
Cytogenetic Map3p14.1NCBI
HuRef363,947,138 - 64,086,205 (+)NCBIHuRef
CHM1_1363,801,559 - 63,940,470 (+)NCBICHM1_1
T2T-CHM13v2.0363,906,771 - 64,047,076 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
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
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. ATAC-king the complexity of SAGA during evolution. Spedale G, etal., Genes Dev. 2012 Mar 15;26(6):527-41. doi: 10.1101/gad.184705.111.
Additional References at PubMed
PMID:7647798   PMID:7829101   PMID:9288099   PMID:9425224   PMID:9603525   PMID:10373431   PMID:10441328   PMID:10598805   PMID:10713882   PMID:11371513   PMID:11406595   PMID:11564863  
PMID:11580893   PMID:11697524   PMID:11709544   PMID:11734547   PMID:11804332   PMID:12070661   PMID:12533095   PMID:12944423   PMID:14702039   PMID:15115762   PMID:15148151   PMID:15302935  
PMID:15316811   PMID:15342556   PMID:15932940   PMID:15936949   PMID:16325416   PMID:16389595   PMID:16494529   PMID:16713569   PMID:16962040   PMID:17026624   PMID:17254003   PMID:17375202  
PMID:17720198   PMID:18029348   PMID:18182848   PMID:18206972   PMID:18206973   PMID:18216249   PMID:18325672   PMID:19114550   PMID:19172503   PMID:19235102   PMID:19259763   PMID:19789634  
PMID:19843541   PMID:19909779   PMID:19955365   PMID:20069235   PMID:20301317   PMID:20301433   PMID:20600911   PMID:20634802   PMID:20732423   PMID:20739808   PMID:20850016   PMID:21078624  
PMID:21746879   PMID:21827908   PMID:22072678   PMID:22100762   PMID:22367614   PMID:22827889   PMID:22917585   PMID:23100044   PMID:23226359   PMID:23236151   PMID:23368522   PMID:23652004  
PMID:23828024   PMID:23892081   PMID:24129567   PMID:24374739   PMID:24859968   PMID:24981860   PMID:25056061   PMID:25643591   PMID:25755283   PMID:25869926   PMID:25900954   PMID:26002199  
PMID:26186194   PMID:26195632   PMID:26210447   PMID:27296891   PMID:27601583   PMID:27855399   PMID:28514442   PMID:28585930   PMID:28597910   PMID:28611215   PMID:28645341   PMID:29509190  
PMID:30021884   PMID:30415952   PMID:30559154   PMID:31097749   PMID:31182584   PMID:31527615   PMID:31685642   PMID:31753913   PMID:32558018   PMID:33338633   PMID:33961781   PMID:34012225  
PMID:34795231   PMID:35140242   PMID:35256949   PMID:35271311   PMID:37071664   PMID:37682711   PMID:37704626   PMID:38216551  


Genomics

Comparative Map Data
ATXN7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38363,863,144 - 64,003,462 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl363,863,155 - 64,003,462 (+)EnsemblGRCh38hg38GRCh38
GRCh37363,848,820 - 63,989,138 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36363,825,273 - 63,961,367 (+)NCBINCBI36Build 36hg18NCBI36
Build 34363,825,272 - 63,961,367NCBI
Celera363,866,997 - 64,005,909 (+)NCBICelera
Cytogenetic Map3p14.1NCBI
HuRef363,947,138 - 64,086,205 (+)NCBIHuRef
CHM1_1363,801,559 - 63,940,470 (+)NCBICHM1_1
T2T-CHM13v2.0363,906,771 - 64,047,076 (+)NCBIT2T-CHM13v2.0
Atxn7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39148,358,358 - 8,508,324 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl148,362,461 - 8,508,323 (-)EnsemblGRCm39 Ensembl
GRCm381413,961,283 - 14,107,316 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1413,961,440 - 14,107,302 (+)EnsemblGRCm38mm10GRCm38
MGSCv371414,845,005 - 14,939,816 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361412,805,758 - 12,897,327 (+)NCBIMGSCv36mm8
Celera149,673,051 - 9,770,917 (+)NCBICelera
Cytogenetic Map14A1NCBI
cM Map147.08NCBI
Atxn7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81513,547,859 - 13,693,311 (-)NCBIGRCr8
mRatBN7.21511,117,360 - 11,262,818 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1511,118,886 - 11,263,106 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01512,421,432 - 12,569,649 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1512,425,175 - 12,513,931 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01516,452,707 - 16,597,558 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41512,669,541 - 12,758,262 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1511,124,309 - 11,269,085 (-)NCBICelera
Cytogenetic Map15p16NCBI
Atxn7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555171,892,757 - 1,980,524 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555171,897,050 - 1,980,428 (-)NCBIChiLan1.0ChiLan1.0
ATXN7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2263,784,589 - 63,922,070 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1363,789,226 - 63,929,576 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0363,766,480 - 63,906,913 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1365,249,146 - 65,284,762 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl365,194,703 - 65,280,879 (+)Ensemblpanpan1.1panPan2
ATXN7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12027,226,957 - 27,335,327 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2027,224,375 - 27,333,445 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2027,151,293 - 27,291,175 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02027,463,951 - 27,603,969 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2027,465,495 - 27,556,457 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12026,960,721 - 27,100,621 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02027,311,169 - 27,450,739 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02027,415,760 - 27,555,632 (-)NCBIUU_Cfam_GSD_1.0
Atxn7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118164,032,909 - 164,167,774 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366372,426,498 - 2,508,686 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366372,422,260 - 2,508,681 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATXN7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1345,401,127 - 45,498,180 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11345,356,350 - 45,514,816 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21349,908,555 - 49,956,739 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATXN7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12224,897,045 - 25,046,188 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2224,945,248 - 25,033,687 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041141,766,784 - 141,918,997 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atxn7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248881,914,063 - 1,999,755 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248881,910,385 - 2,045,038 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATXN7
86 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000333.4:c.89ACG[7_17] microsatellite Spinocerebellar ataxia 7 [RCV001256206] Chr3:63912686..63912688 [GRCh38]
Chr3:63898362..63898364 [GRCh37]
Chr3:3p14.1		 pathogenic|benign
GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1 copy number loss See cases [RCV000050774] Chr3:61970847..68465832 [GRCh38]
Chr3:61956521..68514983 [GRCh37]
Chr3:61931561..68597673 [NCBI36]
Chr3:3p14.2-14.1		 pathogenic
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1		 pathogenic
NM_001377405.1(ATXN7):c.2137C>T (p.Leu713=) single nucleotide variant not specified [RCV000116486] Chr3:63995959 [GRCh38]
Chr3:63981635 [GRCh37]
Chr3:3p14.1		 benign|likely benign
NM_001377405.1(ATXN7):c.2178T>C (p.Ser726=) single nucleotide variant not specified [RCV000116487] Chr3:63996000 [GRCh38]
Chr3:63981676 [GRCh37]
Chr3:3p14.1		 benign|likely benign
NM_001377405.1(ATXN7):c.2584G>A (p.Val862Met) single nucleotide variant not specified [RCV000116488] Chr3:63996406 [GRCh38]
Chr3:63982082 [GRCh37]
Chr3:3p14.1		 benign|likely benign
NM_001377405.1(ATXN7):c.791A>G (p.Lys264Arg) single nucleotide variant not specified [RCV000116489] Chr3:63982224 [GRCh38]
Chr3:63967900 [GRCh37]
Chr3:3p14.1		 benign|likely benign
GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1 copy number loss See cases [RCV000139356] Chr3:63822831..64433817 [GRCh38]
Chr3:63808507..64419493 [GRCh37]
Chr3:63783547..64394533 [NCBI36]
Chr3:3p14.1		 uncertain significance
GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 copy number loss See cases [RCV000139570] Chr3:57430538..64884522 [GRCh38]
Chr3:57416265..64870197 [GRCh37]
Chr3:57391305..64845237 [NCBI36]
Chr3:3p14.3-14.1		 pathogenic
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
NM_001377405.1(ATXN7):c.844G>A (p.Val282Met) single nucleotide variant Abnormality of neuronal migration [RCV000201327] Chr3:63982277 [GRCh38]
Chr3:63967953 [GRCh37]
Chr3:3p14.1		 benign
NM_001377405.1(ATXN7):c.211T>G (p.Ser71Ala) single nucleotide variant Abnormality of neuronal migration [RCV000201402]|not provided [RCV003884384] Chr3:63912809 [GRCh38]
Chr3:63898485 [GRCh37]
Chr3:3p14.1		 pathogenic|benign|likely benign|uncertain significance
NM_001377405.1(ATXN7):c.89AGC[233] (p.Gln39_Pro40insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) microsatellite Spinocerebellar ataxia 7 [RCV000768550] Chr3:63912684..63912685 [GRCh38]
Chr3:63898362 [GRCh37]
Chr3:3p14.1		 pathogenic
NM_001377405.1(ATXN7):c.89AGC[12] (p.Gln38_Gln39dup) microsatellite not specified [RCV000454798] Chr3:63912684..63912685 [GRCh38]
Chr3:63898360..63898361 [GRCh37]
Chr3:3p14.1		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001377405.1(ATXN7):c.584G>A (p.Ser195Asn) single nucleotide variant Inborn genetic diseases [RCV003265196] Chr3:63979999 [GRCh38]
Chr3:63965675 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1370G>A (p.Gly457Asp) single nucleotide variant Inborn genetic diseases [RCV003264501] Chr3:63990184 [GRCh38]
Chr3:63975860 [GRCh37]
Chr3:3p14.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NG_008227.1:g.53130CAG[(38_130)] microsatellite Spinocerebellar ataxia 7 [RCV000003087] Chr3:3p14.1 pathogenic
NM_001377405.1(ATXN7):c.538G>A (p.Val180Ile) single nucleotide variant Inborn genetic diseases [RCV003303227]|not specified [RCV000736058] Chr3:63979953 [GRCh38]
Chr3:63965629 [GRCh37]
Chr3:3p14.1		 likely benign|uncertain significance
NM_001377405.1(ATXN7):c.*14C>A single nucleotide variant ATXN7-related condition [RCV003918232]|not provided [RCV001702554]|not specified [RCV000736109] Chr3:63999481 [GRCh38]
Chr3:63985157 [GRCh37]
Chr3:3p14.1		 benign|likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001377405.1(ATXN7):c.1012+13T>A single nucleotide variant not provided [RCV001703064]|not specified [RCV001699887] Chr3:63982458 [GRCh38]
Chr3:63968134 [GRCh37]
Chr3:3p14.1		 benign|likely benign
GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1 copy number loss not provided [RCV000846379] Chr3:57076136..65716956 [GRCh37]
Chr3:3p14.3-14.1		 pathogenic
GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1 copy number loss not provided [RCV001005439] Chr3:60449667..65561638 [GRCh37]
Chr3:3p14.2-14.1		 pathogenic
NM_001377405.1(ATXN7):c.112_113insCGCCGC (p.Gln37_Gln38insProPro) insertion Spinocerebellar ataxia 7 [RCV000791097] Chr3:63912708..63912709 [GRCh38]
Chr3:63898384..63898385 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.116A>C (p.Gln39Pro) single nucleotide variant not provided [RCV000998095] Chr3:63912714 [GRCh38]
Chr3:63898390 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1594G>A (p.Gly532Ser) single nucleotide variant Spinocerebellar ataxia 7 [RCV000790963] Chr3:63990771 [GRCh38]
Chr3:63976447 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1638C>A (p.Ala546=) single nucleotide variant not provided [RCV000998096] Chr3:63990815 [GRCh38]
Chr3:63976491 [GRCh37]
Chr3:3p14.1		 uncertain significance
GRCh37/hg19 3p14.2-14.1(chr3:62206958-63944889)x3 copy number gain not provided [RCV001005440] Chr3:62206958..63944889 [GRCh37]
Chr3:3p14.2-14.1		 uncertain significance
GRCh37/hg19 3p14.2-14.1(chr3:60844727-63983596)x1 copy number loss not provided [RCV000845843] Chr3:60844727..63983596 [GRCh37]
Chr3:3p14.2-14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del) deletion Spinocerebellar ataxia 7 [RCV001198817] Chr3:63996475..63996477 [GRCh38]
Chr3:63982151..63982153 [GRCh37]
Chr3:3p14.1		 benign
NM_001377405.1(ATXN7):c.*31C>T single nucleotide variant not provided [RCV000998097] Chr3:63999498 [GRCh38]
Chr3:63985174 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2479A>G (p.Thr827Ala) single nucleotide variant not provided [RCV001700587] Chr3:63996301 [GRCh38]
Chr3:63981977 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.1613C>G (p.Ser538Cys) single nucleotide variant Inborn genetic diseases [RCV002539699]|not provided [RCV001700913] Chr3:63990790 [GRCh38]
Chr3:63976466 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2170T>A (p.Ser724Thr) single nucleotide variant not provided [RCV001700813] Chr3:63995992 [GRCh38]
Chr3:63981668 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.273G>C (p.Leu91=) single nucleotide variant not provided [RCV001727932]|not specified [RCV001699719] Chr3:63912871 [GRCh38]
Chr3:63898547 [GRCh37]
Chr3:3p14.1		 benign|likely benign
NM_001377405.1(ATXN7):c.2120G>A (p.Arg707His) single nucleotide variant Spinocerebellar ataxia 7 [RCV002254882] Chr3:63995942 [GRCh38]
Chr3:63981618 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.89AGC[9] (p.Gln39del) microsatellite not specified [RCV001795501] Chr3:63912685..63912687 [GRCh38]
Chr3:63898361..63898363 [GRCh37]
Chr3:3p14.1		 benign
NM_001377405.1(ATXN7):c.2528C>T (p.Ser843Leu) single nucleotide variant Inborn genetic diseases [RCV002543881]|Spinocerebellar ataxia 7 [RCV001849213] Chr3:63996350 [GRCh38]
Chr3:63982026 [GRCh37]
Chr3:3p14.1		 uncertain significance
GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1 copy number loss not provided [RCV001829252] Chr3:59332508..70686155 [GRCh37]
Chr3:3p14.2-13		 pathogenic
NM_001377405.1(ATXN7):c.2119C>A (p.Arg707Ser) single nucleotide variant Tip-toe gait [RCV002221436] Chr3:63995941 [GRCh38]
Chr3:63981617 [GRCh37]
Chr3:3p14.1		 likely pathogenic
NM_001377405.1(ATXN7):c.437A>G (p.Tyr146Cys) single nucleotide variant Inborn genetic diseases [RCV003277887] Chr3:63952421 [GRCh38]
Chr3:63938097 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1739G>A (p.Arg580Gln) single nucleotide variant Inborn genetic diseases [RCV003282932] Chr3:63995561 [GRCh38]
Chr3:63981237 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.739C>T (p.Pro247Ser) single nucleotide variant Inborn genetic diseases [RCV002970463] Chr3:63980154 [GRCh38]
Chr3:63965830 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2255C>G (p.Ser752Cys) single nucleotide variant Inborn genetic diseases [RCV002836601] Chr3:63996077 [GRCh38]
Chr3:63981753 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2497A>G (p.Ile833Val) single nucleotide variant Inborn genetic diseases [RCV002883504] Chr3:63996319 [GRCh38]
Chr3:63981995 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.647C>T (p.Ser216Leu) single nucleotide variant Inborn genetic diseases [RCV002779421] Chr3:63980062 [GRCh38]
Chr3:63965738 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.632T>C (p.Val211Ala) single nucleotide variant Inborn genetic diseases [RCV002993294] Chr3:63980047 [GRCh38]
Chr3:63965723 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.403A>G (p.Ile135Val) single nucleotide variant Inborn genetic diseases [RCV002729931] Chr3:63952387 [GRCh38]
Chr3:63938063 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1288C>T (p.His430Tyr) single nucleotide variant Inborn genetic diseases [RCV002818010] Chr3:63988251 [GRCh38]
Chr3:63973927 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.101A>C (p.Gln34Pro) single nucleotide variant Inborn genetic diseases [RCV002733424] Chr3:63912699 [GRCh38]
Chr3:63898375 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2443C>T (p.Pro815Ser) single nucleotide variant Inborn genetic diseases [RCV002865246] Chr3:63996265 [GRCh38]
Chr3:63981941 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1162G>A (p.Glu388Lys) single nucleotide variant Inborn genetic diseases [RCV002818101] Chr3:63988125 [GRCh38]
Chr3:63973801 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.772G>A (p.Val258Met) single nucleotide variant Inborn genetic diseases [RCV002974253] Chr3:63982205 [GRCh38]
Chr3:63967881 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2245dup (p.Thr749fs) duplication not provided [RCV002481180] Chr3:63996065..63996066 [GRCh38]
Chr3:63981741..63981742 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1220C>G (p.Pro407Arg) single nucleotide variant Inborn genetic diseases [RCV002863953] Chr3:63988183 [GRCh38]
Chr3:63973859 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2435A>C (p.Asn812Thr) single nucleotide variant Inborn genetic diseases [RCV002694100] Chr3:63996257 [GRCh38]
Chr3:63981933 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1837C>G (p.Pro613Ala) single nucleotide variant Inborn genetic diseases [RCV002951271] Chr3:63995659 [GRCh38]
Chr3:63981335 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1885C>T (p.Pro629Ser) single nucleotide variant Inborn genetic diseases [RCV002950225] Chr3:63995707 [GRCh38]
Chr3:63981383 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.980A>G (p.Asn327Ser) single nucleotide variant ATXN7-related condition [RCV003936639]|Inborn genetic diseases [RCV002707039] Chr3:63982413 [GRCh38]
Chr3:63968089 [GRCh37]
Chr3:3p14.1		 likely benign|uncertain significance
NM_001377405.1(ATXN7):c.79G>A (p.Ala27Thr) single nucleotide variant Inborn genetic diseases [RCV002799925] Chr3:63912677 [GRCh38]
Chr3:63898353 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2153C>G (p.Ser718Cys) single nucleotide variant Inborn genetic diseases [RCV002804971] Chr3:63995975 [GRCh38]
Chr3:63981651 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1348C>T (p.Pro450Ser) single nucleotide variant Inborn genetic diseases [RCV002709126] Chr3:63988311 [GRCh38]
Chr3:63973987 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1540C>T (p.His514Tyr) single nucleotide variant Inborn genetic diseases [RCV002788568] Chr3:63990354 [GRCh38]
Chr3:63976030 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1975C>T (p.Leu659Phe) single nucleotide variant Inborn genetic diseases [RCV002849744] Chr3:63995797 [GRCh38]
Chr3:63981473 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1429C>T (p.Pro477Ser) single nucleotide variant Inborn genetic diseases [RCV002641101] Chr3:63990243 [GRCh38]
Chr3:63975919 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.763T>G (p.Ser255Ala) single nucleotide variant Inborn genetic diseases [RCV002853519] Chr3:63982196 [GRCh38]
Chr3:63967872 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.690G>C (p.Gln230His) single nucleotide variant Inborn genetic diseases [RCV002986750] Chr3:63980105 [GRCh38]
Chr3:63965781 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2084C>T (p.Ala695Val) single nucleotide variant Inborn genetic diseases [RCV002812639] Chr3:63995906 [GRCh38]
Chr3:63981582 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2246C>T (p.Thr749Met) single nucleotide variant Inborn genetic diseases [RCV002648918] Chr3:63996068 [GRCh38]
Chr3:63981744 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.230C>G (p.Thr77Arg) single nucleotide variant Inborn genetic diseases [RCV002935152] Chr3:63912828 [GRCh38]
Chr3:63898504 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2338C>T (p.Pro780Ser) single nucleotide variant Inborn genetic diseases [RCV002934196] Chr3:63996160 [GRCh38]
Chr3:63981836 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.634C>G (p.Leu212Val) single nucleotide variant Inborn genetic diseases [RCV002672415] Chr3:63980049 [GRCh38]
Chr3:63965725 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.111G>C (p.Gln37His) single nucleotide variant Inborn genetic diseases [RCV002944414] Chr3:63912709 [GRCh38]
Chr3:63898385 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.564C>G (p.Phe188Leu) single nucleotide variant Inborn genetic diseases [RCV002944495] Chr3:63979979 [GRCh38]
Chr3:63965655 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1483G>A (p.Gly495Ser) single nucleotide variant Inborn genetic diseases [RCV003299760] Chr3:63990297 [GRCh38]
Chr3:63975973 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.943C>T (p.Pro315Ser) single nucleotide variant Inborn genetic diseases [RCV003178217] Chr3:63982376 [GRCh38]
Chr3:63968052 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1417G>C (p.Val473Leu) single nucleotide variant Inborn genetic diseases [RCV003174790] Chr3:63990231 [GRCh38]
Chr3:63975907 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2366A>G (p.Lys789Arg) single nucleotide variant Inborn genetic diseases [RCV003190952] Chr3:63996188 [GRCh38]
Chr3:63981864 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1991C>T (p.Ser664Phe) single nucleotide variant Inborn genetic diseases [RCV003209240] Chr3:63995813 [GRCh38]
Chr3:63981489 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2230C>T (p.Pro744Ser) single nucleotide variant Inborn genetic diseases [RCV003215220] Chr3:63996052 [GRCh38]
Chr3:63981728 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.127C>G (p.Pro43Ala) single nucleotide variant Inborn genetic diseases [RCV003215863] Chr3:63912725 [GRCh38]
Chr3:63898401 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.179C>G (p.Pro60Arg) single nucleotide variant Inborn genetic diseases [RCV003217707] Chr3:63912777 [GRCh38]
Chr3:63898453 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2266A>G (p.Ile756Val) single nucleotide variant Inborn genetic diseases [RCV003304624] Chr3:63996088 [GRCh38]
Chr3:63981764 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2404C>G (p.Leu802Val) single nucleotide variant Inborn genetic diseases [RCV003356558] Chr3:63996226 [GRCh38]
Chr3:63981902 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.124C>T (p.Pro42Ser) single nucleotide variant Inborn genetic diseases [RCV003351974] Chr3:63912722 [GRCh38]
Chr3:63898398 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1222C>T (p.Pro408Ser) single nucleotide variant Inborn genetic diseases [RCV003379667] Chr3:63988185 [GRCh38]
Chr3:63973861 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.1486G>A (p.Glu496Lys) single nucleotide variant Inborn genetic diseases [RCV003359716] Chr3:63990300 [GRCh38]
Chr3:63975976 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.2459G>A (p.Gly820Asp) single nucleotide variant not provided [RCV003457379] Chr3:63996281 [GRCh38]
Chr3:63981957 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.143A>G (p.Gln48Arg) single nucleotide variant not specified [RCV003489655] Chr3:63912741 [GRCh38]
Chr3:63898417 [GRCh37]
Chr3:3p14.1		 uncertain significance
GRCh37/hg19 3p14.1(chr3:63842338-63918773)x1 copy number loss not provided [RCV003485391] Chr3:63842338..63918773 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.117GCC[4] (p.Pro43_Gln44insPro) microsatellite not provided [RCV003433651] Chr3:63912714..63912715 [GRCh38]
Chr3:63898390..63898391 [GRCh37]
Chr3:3p14.1		 benign
NM_001377405.1(ATXN7):c.1484G>A (p.Gly495Asp) single nucleotide variant not provided [RCV003433653] Chr3:63990298 [GRCh38]
Chr3:63975974 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.89AGC[14] (p.Gln39_Pro40insGlnGlnGlnGln) microsatellite not provided [RCV003437895] Chr3:63912684..63912685 [GRCh38]
Chr3:63898360..63898361 [GRCh37]
Chr3:3p14.1		 benign
NM_001377405.1(ATXN7):c.2301G>A (p.Ala767=) single nucleotide variant not provided [RCV003437897] Chr3:63996123 [GRCh38]
Chr3:63981799 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.500-8G>A single nucleotide variant not provided [RCV003433652] Chr3:63979907 [GRCh38]
Chr3:63965583 [GRCh37]
Chr3:3p14.1		 benign
NM_001377405.1(ATXN7):c.89AGC[15] (p.Gln39_Pro40insGlnGlnGlnGlnGln) microsatellite not provided [RCV003433650] Chr3:63912684..63912685 [GRCh38]
Chr3:63898360..63898361 [GRCh37]
Chr3:3p14.1		 benign
NM_001377405.1(ATXN7):c.37C>T (p.Pro13Ser) single nucleotide variant not provided [RCV003433649] Chr3:63912635 [GRCh38]
Chr3:63898311 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.118_119insAGCCGC (p.Gln39_Pro40insGlnPro) insertion not provided [RCV003437896] Chr3:63912714..63912715 [GRCh38]
Chr3:63898390..63898391 [GRCh37]
Chr3:3p14.1		 likely benign
GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1 copy number loss not specified [RCV003986442] Chr3:62188399..71663248 [GRCh37]
Chr3:3p14.2-13		 pathogenic
GRCh37/hg19 3p14.1(chr3:63951195-63977015)x1 copy number loss not specified [RCV003986410] Chr3:63951195..63977015 [GRCh37]
Chr3:3p14.1		 uncertain significance
NM_001377405.1(ATXN7):c.104A>C (p.Gln35Pro) single nucleotide variant ATXN7-related condition [RCV003974163] Chr3:63912702 [GRCh38]
Chr3:63898378 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.1249G>A (p.Ala417Thr) single nucleotide variant ATXN7-related condition [RCV003963814] Chr3:63988212 [GRCh38]
Chr3:63973888 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.89AGC[13] (p.Gln39_Pro40insGlnGlnGln) microsatellite ATXN7-related condition [RCV003909314] Chr3:63912684..63912685 [GRCh38]
Chr3:63898360..63898361 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.1659G>A (p.Lys553=) single nucleotide variant ATXN7-related condition [RCV003957299] Chr3:63990836 [GRCh38]
Chr3:63976512 [GRCh37]
Chr3:3p14.1		 benign
NM_001377405.1(ATXN7):c.54G>C (p.Ala18=) single nucleotide variant ATXN7-related condition [RCV003951674] Chr3:63912652 [GRCh38]
Chr3:63898328 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.916A>T (p.Ile306Phe) single nucleotide variant ATXN7-related condition [RCV003911527] Chr3:63982349 [GRCh38]
Chr3:63968025 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.2451C>A (p.Asn817Lys) single nucleotide variant ATXN7-related condition [RCV003957366] Chr3:63996273 [GRCh38]
Chr3:63981949 [GRCh37]
Chr3:3p14.1		 likely benign
NM_001377405.1(ATXN7):c.695G>A (p.Arg232Lys) single nucleotide variant ATXN7-related condition [RCV003951544] Chr3:63980110 [GRCh38]
Chr3:63965786 [GRCh37]
Chr3:3p14.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6734
Count of miRNA genes:1242
Interacting mature miRNAs:1608
Transcripts:ENST00000295900, ENST00000398590, ENST00000466529, ENST00000472569, ENST00000474112, ENST00000474513, ENST00000475897, ENST00000477516, ENST00000484332, ENST00000484668, ENST00000487717, ENST00000488239, ENST00000522345, ENST00000538065
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
A007I19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37363,897,254 - 63,897,391UniSTSGRCh37
Build 36363,872,294 - 63,872,431RGDNCBI36
Celera363,914,025 - 63,914,162RGD
Cytogenetic Map3p21UniSTS
Cytogenetic Map3p21.1-p12UniSTS
HuRef363,994,160 - 63,994,297UniSTS
GeneMap99-GB4 RH Map3191.54UniSTS
NCBI RH Map3518.3UniSTS
G16540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37363,979,642 - 63,979,751UniSTSGRCh37
Build 36363,954,682 - 63,954,791RGDNCBI36
Celera363,996,414 - 63,996,523RGD
Cytogenetic Map3p21.1-p12UniSTS
HuRef364,076,709 - 64,076,818UniSTS
SHGC-82827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37363,899,350 - 63,899,688UniSTSGRCh37
Build 36363,874,390 - 63,874,728RGDNCBI36
Celera363,916,121 - 63,916,459RGD
Cytogenetic Map3p21.1-p12UniSTS
HuRef363,996,208 - 63,996,546UniSTS
SHGC-77026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37363,982,078 - 63,982,250UniSTSGRCh37
Build 36363,957,118 - 63,957,290RGDNCBI36
Celera363,998,850 - 63,999,022RGD
Cytogenetic Map3p21.1-p12UniSTS
HuRef364,079,145 - 64,079,317UniSTS
GeneMap99-GB4 RH Map3191.29UniSTS
ATXN7_7871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37363,985,710 - 63,986,352UniSTSGRCh37
Build 36363,960,750 - 63,961,392RGDNCBI36
Celera364,002,481 - 64,003,123RGD
HuRef364,082,777 - 64,083,419UniSTS
SGC35083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37363,982,164 - 63,982,288UniSTSGRCh37
Build 36363,957,204 - 63,957,328RGDNCBI36
Celera363,998,936 - 63,999,060RGD
Cytogenetic Map3p21.1-p12UniSTS
HuRef364,079,231 - 64,079,355UniSTS
GeneMap99-GB4 RH Map3198.02UniSTS
Whitehead-RH Map3242.4UniSTS
SHGC-77032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37363,897,314 - 63,897,463UniSTSGRCh37
Build 36363,872,354 - 63,872,503RGDNCBI36
Celera363,914,085 - 63,914,234RGD
Cytogenetic Map3p21.1-p12UniSTS
HuRef363,994,220 - 63,994,369UniSTS
GeneMap99-GB4 RH Map3192.16UniSTS
NCBI RH Map3508.9UniSTS
SGC30565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37363,987,551 - 63,987,676UniSTSGRCh37
Build 36363,962,591 - 63,962,716RGDNCBI36
Celera364,004,322 - 64,004,447RGD
Cytogenetic Map3p14UniSTS
Cytogenetic Map3p21.1-p12UniSTS
HuRef364,084,618 - 64,084,743UniSTS
GeneMap99-GB4 RH Map3200.43UniSTS
Whitehead-RH Map3243.0UniSTS
D3S2349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37363,930,125 - 63,930,331UniSTSGRCh37
Build 36363,905,165 - 63,905,371RGDNCBI36
Celera363,946,896 - 63,947,102RGD
Cytogenetic Map3p21.1-p12UniSTS
HuRef364,026,981 - 64,027,187UniSTS


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 1323 1364 931 146 834 58 3161 687 1189 116 1224 1390 94 971 1912 4
Low 1115 1606 775 459 841 388 1194 1504 2519 299 217 218 80 1 233 876 2
Below cutoff 16 17 16 388 16 3 24 6 22 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA398030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF032102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF032103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF032104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF032105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF332956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ000517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL134602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI494079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP220889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM764458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295900   ⟹   ENSP00000295900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,864,560 - 64,003,462 (+)Ensembl
RefSeq Acc Id: ENST00000466529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,982,187 - 63,988,474 (+)Ensembl
RefSeq Acc Id: ENST00000472569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,982,891 - 63,988,463 (+)Ensembl
RefSeq Acc Id: ENST00000474112   ⟹   ENSP00000493724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,864,557 - 63,996,636 (+)Ensembl
RefSeq Acc Id: ENST00000474513   ⟹   ENSP00000418203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,864,557 - 63,912,675 (+)Ensembl
RefSeq Acc Id: ENST00000475897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,967,807 - 63,980,663 (+)Ensembl
RefSeq Acc Id: ENST00000477516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,990,510 - 63,995,877 (+)Ensembl
RefSeq Acc Id: ENST00000484332   ⟹   ENSP00000428277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,967,744 - 63,999,796 (+)Ensembl
RefSeq Acc Id: ENST00000484668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,988,199 - 63,990,985 (+)Ensembl
RefSeq Acc Id: ENST00000487717   ⟹   ENSP00000420234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,911,929 - 64,000,207 (+)Ensembl
RefSeq Acc Id: ENST00000488239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,968,369 - 63,982,423 (+)Ensembl
RefSeq Acc Id: ENST00000522345   ⟹   ENSP00000428067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,912,588 - 63,999,559 (+)Ensembl
RefSeq Acc Id: ENST00000538065   ⟹   ENSP00000439585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,898,399 - 64,003,453 (+)Ensembl
RefSeq Acc Id: ENST00000642539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,864,640 - 63,867,057 (+)Ensembl
RefSeq Acc Id: ENST00000643453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,998,736 - 64,002,003 (+)Ensembl
RefSeq Acc Id: ENST00000643464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,863,155 - 63,902,202 (+)Ensembl
RefSeq Acc Id: ENST00000646942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,864,640 - 63,898,497 (+)Ensembl
RefSeq Acc Id: ENST00000647117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,863,159 - 63,905,838 (+)Ensembl
RefSeq Acc Id: ENST00000650280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,864,640 - 63,903,410 (+)Ensembl
RefSeq Acc Id: ENST00000674254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,864,640 - 63,905,879 (+)Ensembl
RefSeq Acc Id: ENST00000674280   ⟹   ENSP00000501377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl363,863,867 - 64,003,462 (+)Ensembl
RefSeq Acc Id: NM_000333   ⟹   NP_000324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,864,534 - 64,003,462 (+)NCBI
GRCh37363,849,785 - 63,989,240 (+)NCBI
Build 36363,825,273 - 63,961,367 (+)NCBI Archive
HuRef363,947,138 - 64,086,205 (+)ENTREZGENE
CHM1_1363,801,559 - 63,940,470 (+)NCBI
T2T-CHM13v2.0363,908,142 - 64,047,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128149   ⟹   NP_001121621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,967,794 - 64,003,462 (+)NCBI
GRCh37363,849,785 - 63,989,240 (+)NCBI
HuRef363,947,138 - 64,086,205 (+)ENTREZGENE
CHM1_1363,904,755 - 63,940,470 (+)NCBI
T2T-CHM13v2.0364,011,404 - 64,047,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001177387   ⟹   NP_001170858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,898,399 - 64,003,462 (+)NCBI
GRCh37363,849,785 - 63,989,240 (+)NCBI
HuRef363,947,138 - 64,086,205 (+)ENTREZGENE
CHM1_1363,835,412 - 63,940,470 (+)NCBI
T2T-CHM13v2.0363,942,016 - 64,047,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377405   ⟹   NP_001364334
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,863,867 - 64,003,462 (+)NCBI
T2T-CHM13v2.0363,907,494 - 64,047,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377406   ⟹   NP_001364335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,912,112 - 64,003,462 (+)NCBI
T2T-CHM13v2.0363,955,730 - 64,047,076 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165269
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,863,144 - 63,902,450 (+)NCBI
T2T-CHM13v2.0363,906,771 - 63,946,068 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165270
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,863,144 - 63,904,197 (+)NCBI
T2T-CHM13v2.0363,906,771 - 63,947,815 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000324   ⟸   NM_000333
- Peptide Label: isoform a
- UniProtKB: O75329 (UniProtKB/Swiss-Prot),   O75328 (UniProtKB/Swiss-Prot),   E9PHP9 (UniProtKB/Swiss-Prot),   B4E207 (UniProtKB/Swiss-Prot),   Q9Y6P8 (UniProtKB/Swiss-Prot),   O15265 (UniProtKB/Swiss-Prot),   A0A2R8YDD6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001170858   ⟸   NM_001177387
- Peptide Label: isoform b
- UniProtKB: A0A2R8YDD6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121621   ⟸   NM_001128149
- Peptide Label: isoform c
- UniProtKB: A0A2R8YDD6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364334   ⟸   NM_001377405
- Peptide Label: isoform a
- UniProtKB: O75329 (UniProtKB/Swiss-Prot),   O75328 (UniProtKB/Swiss-Prot),   O15265 (UniProtKB/Swiss-Prot),   E9PHP9 (UniProtKB/Swiss-Prot),   B4E207 (UniProtKB/Swiss-Prot),   Q9Y6P8 (UniProtKB/Swiss-Prot),   A0A2R8YDD6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364335   ⟸   NM_001377406
- Peptide Label: isoform a
- UniProtKB: O75329 (UniProtKB/Swiss-Prot),   O75328 (UniProtKB/Swiss-Prot),   O15265 (UniProtKB/Swiss-Prot),   E9PHP9 (UniProtKB/Swiss-Prot),   B4E207 (UniProtKB/Swiss-Prot),   Q9Y6P8 (UniProtKB/Swiss-Prot),   A0A2R8YDD6 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000501377   ⟸   ENST00000674280
RefSeq Acc Id: ENSP00000295900   ⟸   ENST00000295900
RefSeq Acc Id: ENSP00000428067   ⟸   ENST00000522345
RefSeq Acc Id: ENSP00000439585   ⟸   ENST00000538065
RefSeq Acc Id: ENSP00000428277   ⟸   ENST00000484332
RefSeq Acc Id: ENSP00000420234   ⟸   ENST00000487717
RefSeq Acc Id: ENSP00000493724   ⟸   ENST00000474112
RefSeq Acc Id: ENSP00000418203   ⟸   ENST00000474513
Protein Domains
SCA7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15265-F1-model_v2 AlphaFold O15265 1-892 view protein structure

Promoters
RGD ID:6801649
Promoter ID:HG_KWN:45432
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:NM_000333,   UC003DLV.2,   UC010HNU.1,   UC010HNV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36363,824,336 - 63,825,512 (+)MPROMDB
RGD ID:6864878
Promoter ID:EPDNEW_H5604
Type:initiation region
Name:ATXN7_7
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,863,155 - 63,863,215EPDNEW
RGD ID:6864882
Promoter ID:EPDNEW_H5605
Type:initiation region
Name:ATXN7_6
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,863,540 - 63,863,600EPDNEW
RGD ID:6864886
Promoter ID:EPDNEW_H5607
Type:initiation region
Name:ATXN7_5
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,864,150 - 63,864,210EPDNEW
RGD ID:6812254
Promoter ID:HG_ACW:54384
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ATXN7.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36363,872,856 - 63,873,687 (+)MPROMDB
RGD ID:6864892
Promoter ID:EPDNEW_H5610
Type:initiation region
Name:ATXN7_1
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,912,112 - 63,912,172EPDNEW
RGD ID:6864894
Promoter ID:EPDNEW_H5611
Type:initiation region
Name:ATXN7_12
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,912,728 - 63,912,788EPDNEW
RGD ID:6864896
Promoter ID:EPDNEW_H5612
Type:initiation region
Name:ATXN7_9
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,913,144 - 63,913,204EPDNEW
RGD ID:6800588
Promoter ID:HG_KWN:45434
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001128149,   UC010HNW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36363,928,516 - 63,929,016 (+)MPROMDB
RGD ID:6864898
Promoter ID:EPDNEW_H5613
Type:initiation region
Name:ATXN7_2
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,967,808 - 63,967,868EPDNEW
RGD ID:6864900
Promoter ID:EPDNEW_H5614
Type:initiation region
Name:ATXN7_8
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,980,114 - 63,980,174EPDNEW
RGD ID:6864902
Promoter ID:EPDNEW_H5615
Type:initiation region
Name:ATXN7_10
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5616  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,982,258 - 63,982,318EPDNEW
RGD ID:6864904
Promoter ID:EPDNEW_H5616
Type:initiation region
Name:ATXN7_4
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5617  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38363,999,609 - 63,999,669EPDNEW
RGD ID:6864906
Promoter ID:EPDNEW_H5617
Type:initiation region
Name:ATXN7_3
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38364,000,996 - 64,001,056EPDNEW
RGD ID:6864908
Promoter ID:EPDNEW_H5618
Type:initiation region
Name:ATXN7_11
Description:ataxin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5604  EPDNEW_H5605  EPDNEW_H5607  EPDNEW_H5610  EPDNEW_H5611  EPDNEW_H5612  EPDNEW_H5613  EPDNEW_H5614  EPDNEW_H5615  EPDNEW_H5616  EPDNEW_H5617  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38364,003,056 - 64,003,116EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10560 AgrOrtholog
COSMIC ATXN7 COSMIC
Ensembl Genes ENSG00000163635 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285258 Ensembl
Ensembl Transcript ENST00000295900 ENTREZGENE
  ENST00000295900.10 UniProtKB/Swiss-Prot
  ENST00000474112.5 UniProtKB/TrEMBL
  ENST00000474513.6 UniProtKB/TrEMBL
  ENST00000484332 ENTREZGENE
  ENST00000484332.1 UniProtKB/Swiss-Prot
  ENST00000487717 ENTREZGENE
  ENST00000487717.5 UniProtKB/Swiss-Prot
  ENST00000522345 ENTREZGENE
  ENST00000522345.2 UniProtKB/Swiss-Prot
  ENST00000643464 ENTREZGENE
  ENST00000674280 ENTREZGENE
  ENST00000674280.1 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.140.670 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163635 GTEx
  ENSG00000285258 GTEx
HGNC ID HGNC:10560 ENTREZGENE
Human Proteome Map ATXN7 Human Proteome Map
InterPro SCA7_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6314 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6314 ENTREZGENE
OMIM 607640 OMIM
PANTHER ATAXIN 7 RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15117:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SCA7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34973 PharmGKB
PROSITE SCA7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GX67_HUMAN UniProtKB/TrEMBL
  A0A2R8YDD6 ENTREZGENE, UniProtKB/TrEMBL
  ATX7_HUMAN UniProtKB/Swiss-Prot
  B4E207 ENTREZGENE
  E9PHP9 ENTREZGENE
  O15265 ENTREZGENE
  O75328 ENTREZGENE
  O75329 ENTREZGENE
  Q9UPD8_HUMAN UniProtKB/TrEMBL
  Q9Y6P8 ENTREZGENE
UniProt Secondary A0A0A6YYU1 UniProtKB/TrEMBL
  A0A0K0K1H5 UniProtKB/TrEMBL
  B4E207 UniProtKB/Swiss-Prot
  E9PHP9 UniProtKB/Swiss-Prot
  F6U365 UniProtKB/TrEMBL
  O75328 UniProtKB/Swiss-Prot
  O75329 UniProtKB/Swiss-Prot
  Q9Y6P8 UniProtKB/Swiss-Prot