ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) - Rat Genome Database

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Gene: ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) Homo sapiens
Analyze
Symbol: ITPR1
Name: inositol 1,4,5-trisphosphate receptor type 1
RGD ID: 732978
HGNC Page HGNC
Description: Enables calcium channel inhibitor activity. Involved in negative regulation of calcium-mediated signaling and response to hypoxia. Located in platelet dense granule membrane and platelet dense tubular network. Implicated in Gillespie syndrome; spinocerebellar ataxia type 15; and spinocerebellar ataxia type 29. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACV; CLA4; DKFZp313E1334; DKFZp313N1434; inositol 1,4,5-triphosphate receptor, type 1; inositol 1,4,5-trisphosphate receptor, type 1; INSP3R1; IP3 receptor; IP3R; IP3R 1; IP3R1; PPP1R94; SCA15; SCA16; SCA29; spinocerebellar ataxia 15; spinocerebellar ataxia 16; type 1 inositol 1,4,5-trisphosphate receptor; type 1 InsP3 receptor
RGD Orthologs
Mouse
Rat
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
GRCh3834,493,348 - 4,847,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl34,493,345 - 4,847,506 (+)EnsemblGRCh38hg38GRCh38
GRCh3734,535,032 - 4,889,190 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3634,510,034 - 4,864,286 (+)NCBINCBI36hg18NCBI36
Build 3434,510,135 - 4,864,079NCBI
Celera34,473,120 - 4,827,522 (+)NCBI
Cytogenetic Map3p26.1NCBI
HuRef34,468,779 - 4,822,934 (+)NCBIHuRef
CHM1_134,485,103 - 4,839,760 (+)NCBICHM1_1
T2T-CHM13v2.034,487,354 - 4,841,309 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(E)-thiamethoxam  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1D-myo-inositol 1,4,5-trisphosphate  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
acetaldehyde  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium acetate  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bexarotene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A5  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
calcium atom  (EXP)
calcium(0)  (EXP)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cycloheximide  (EXP)
cypermethrin  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
emodin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (EXP,ISO)
etoposide  (EXP)
fenthion  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fomepizole  (EXP)
formaldehyde  (EXP)
genistein  (EXP)
glyphosate  (EXP)
GW 4064  (ISO)
halothane  (ISO)
homocysteine  (EXP)
hydrogen peroxide  (EXP)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
linsidomine  (EXP)
maneb  (ISO)
melatonin  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
N-hexadecanoylsphingosine  (ISO)
nevirapine  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
oxycodone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
potassium chloride  (ISO)
procaine  (EXP)
progesterone  (EXP)
propanal  (EXP)
propiconazole  (ISO)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
sarin  (EXP)
SB 431542  (EXP)
scopolamine  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
Soman  (ISO)
succimer  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
tauroursodeoxycholic acid  (ISO)
testosterone  (EXP)
thapsigargin  (ISO)
thiamethoxam  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
toluene  (ISO)
topiramate  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
xestospongin C  (EXP)
XL147  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway  (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
Alzheimer's disease pathway  (IEA)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
calcium transport pathway  (TAS)
calcium/calcium-mediated signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
glutamate signaling pathway  (IEA)
gonadotropin-releasing hormone signaling pathway  (IEA)
Huntington's disease pathway  (IEA)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
long term depression  (IEA)
long term potentiation  (IEA)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
phosphatidylinositol 3-kinase signaling pathway  (IEA)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellum morphology  (IAGP)
Abnormal saccadic eye movements  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of the pulmonary artery  (IAGP)
Adult onset  (IAGP)
Aniridia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Behavioral abnormality  (IAGP)
Broad-based gait  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Delayed ability to walk  (IAGP)
Delayed fine motor development  (IAGP)
Delayed gross motor development  (IAGP)
Delayed social development  (IAGP)
Delayed speech and language development  (IAGP)
Diffuse cerebellar atrophy  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
Dysmetric saccades  (IAGP)
Focal impaired awareness seizure  (IAGP)
Gait ataxia  (IAGP)
Gaze-evoked horizontal nystagmus  (IAGP)
Gaze-evoked nystagmus  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Head tremor  (IAGP)
Hearing abnormality  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the iris  (IAGP)
Hypotonia  (IAGP)
Impaired smooth pursuit  (IAGP)
Impaired tandem gait  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intention tremor  (IAGP)
Juvenile onset  (IAGP)
Limb ataxia  (IAGP)
Mask-like facies  (IAGP)
Motor delay  (IAGP)
Nonprogressive cerebellar ataxia  (IAGP)
Nystagmus  (IAGP)
Ocular anterior segment dysgenesis  (IAGP)
Oculomotor apraxia  (IAGP)
Postural tremor  (IAGP)
Scanning speech  (IAGP)
Slowly progressive  (IAGP)
Slurred speech  (IAGP)
Spastic ataxia  (IAGP)
Truncal ataxia  (IAGP)
Truncal titubation  (IAGP)
Upper limb postural tremor  (IAGP)
Visual fixation instability  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15. Di Gregorio E, etal., Cerebellum. 2010 Mar;9(1):115-23.
2. Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease. Ginzburg L and Futerman AH, J Neurochem. 2005 Dec;95(6):1619-28. Epub 2005 Nov 8.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Intracerebroventricular administration of quinolinic acid induces a selective decrease of inositol(1,4,5)-trisphosphate receptor in rat brain. Haug LS, etal., Neurochem Int. 1998 Aug;33(2):109-19.
5. Decreased inositol (1,4,5)-trisphosphate receptor levels in Alzheimer's disease cerebral cortex: selectivity of changes and possible correlation to pathological severity. Haug LS, etal., Neurodegeneration. 1996 Jun;5(2):169-76.
6. Mechanism of ER stress-induced brain damage by IP(3) receptor. Higo T, etal., Neuron. 2010 Dec 9;68(5):865-78.
7. Functional Role of Intracellular Calcium Receptor Inositol 1,4,5-Trisphosphate Type 1 in Rat Hippocampus after Neonatal Anoxia. Ikebara JM, etal., PLoS One. 2017 Jan 10;12(1):e0169861. doi: 10.1371/journal.pone.0169861. eCollection 2017.
8. Hypoxia modulates gene expression of IP3 receptors in rodent cerebellum. Jurkovicova D, etal., Pflugers Arch. 2007 Jun;454(3):415-25. Epub 2007 Feb 7.
9. Calpain-cleaved type 1 inositol 1,4,5-trisphosphate receptor (InsP(3)R1) has InsP(3)-independent gating and disrupts intracellular Ca(2+) homeostasis. Kopil CM, etal., J Biol Chem. 2011 Oct 14;286(41):35998-6010. Epub 2011 Aug 22.
10. Peripheral gene expression profile of mechanical hyperalgesia induced by repeated cold stress in SHRSP5/Dmcr rats. Kozaki Y, etal., J Physiol Sci. 2015 Sep;65(5):417-25. doi: 10.1007/s12576-015-0380-9. Epub 2015 May 14.
11. Altered expression of type 1 inositol 1,4,5-trisphosphate receptor in the Ngsk Prnp deficient mice. Lee HP, etal., Neuroscience. 2010 May 19;167(3):799-808. Epub 2010 Feb 26.
12. The effect of substance P on asthmatic rat airway smooth muscle cell proliferation, migration, and cytoplasmic calcium concentration in vitro. Li M, etal., J Inflamm (Lond). 2011 Jul 21;8(1):18.
13. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Marelli C, etal., Arch Neurol. 2011 May;68(5):637-43.
14. Type 1 inositol 1,4,5-trisphosphate receptor knock-out mice: their phenotypes and their meaning in neuroscience and clinical practice. Matsumoto M and Nagata E, J Mol Med (Berl). 1999 May;77(5):406-11.
15. Mapping a cardiomyopathy locus to chromosome 3p22-p25. Olson TM and Keating MT, J Clin Invest 1996 Jan 15;97(2):528-32.
16. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Neuroprotective effects of inositol 1,4,5-trisphosphate receptor C-terminal fragment in a Huntington's disease mouse model. Tang TS, etal., J Neurosci. 2009 Feb 4;29(5):1257-66.
23. Regulation of inositol 1,4,5-trisphosphate-induced Ca2+ release by reversible phosphorylation and dephosphorylation. Vanderheyden V, etal., Biochim Biophys Acta. 2009 Jun;1793(6):959-70. doi: 10.1016/j.bbamcr.2008.12.003. Epub 2008 Dec 16.
24. Inositol 1,4,5-trisphosphate receptor 1 mutation perturbs glucose homeostasis and enhances susceptibility to diet-induced diabetes. Ye R, etal., J Endocrinol. 2011 Aug;210(2):209-17. Epub 2011 May 12.
25. In situ hybridization of mRNA expression for IP3 receptor and IP3-3-kinase in rat brain after transient focal cerebral ischemia. Zhang SX, etal., Brain Res Mol Brain Res. 1995 Sep;32(2):252-60.
Additional References at PubMed
PMID:1693919   PMID:7500840   PMID:7559486   PMID:7852357   PMID:7945203   PMID:8132516   PMID:8132598   PMID:8521476   PMID:8648241   PMID:8713116   PMID:8889548   PMID:9278393  
PMID:9346894   PMID:9511764   PMID:9607712   PMID:9808459   PMID:9853757   PMID:10209024   PMID:10724174   PMID:10737800   PMID:10828023   PMID:10843712   PMID:10874040   PMID:11163362  
PMID:11329013   PMID:11413485   PMID:11445634   PMID:11524429   PMID:11574661   PMID:11587548   PMID:11723290   PMID:11782428   PMID:11956293   PMID:12032348   PMID:12196544   PMID:12356940  
PMID:12444087   PMID:12477932   PMID:12480535   PMID:12525476   PMID:12529267   PMID:12606542   PMID:12611586   PMID:12676536   PMID:12717445   PMID:12754204   PMID:12766172   PMID:12828938  
PMID:14505576   PMID:14570872   PMID:14635192   PMID:14685260   PMID:14697242   PMID:14707143   PMID:14761954   PMID:14981189   PMID:15067324   PMID:15104175   PMID:15146197   PMID:15148151  
PMID:15613488   PMID:15623527   PMID:15623688   PMID:15652484   PMID:16091359   PMID:16223735   PMID:16237118   PMID:16278292   PMID:16344560   PMID:16454711   PMID:16621795   PMID:16723353  
PMID:16793548   PMID:16844763   PMID:16990268   PMID:16990611   PMID:17081983   PMID:17130290   PMID:17256008   PMID:17437169   PMID:17502376   PMID:17590087   PMID:17690304   PMID:17696464  
PMID:17932120   PMID:18056410   PMID:18250332   PMID:18303017   PMID:18364356   PMID:18579805   PMID:18657507   PMID:18708078   PMID:18990696   PMID:19120137   PMID:19147678   PMID:19220705  
PMID:19240031   PMID:19325567   PMID:19429868   PMID:19666470   PMID:19706527   PMID:19730683   PMID:19854836   PMID:19934645   PMID:19946888   PMID:20010695   PMID:20301317   PMID:20301536  
PMID:20360068   PMID:20379614   PMID:20395455   PMID:20395553   PMID:20427533   PMID:20437544   PMID:20632399   PMID:20669319   PMID:21046461   PMID:21071436   PMID:21367767   PMID:21382133  
PMID:21457704   PMID:21762810   PMID:21784978   PMID:21827915   PMID:21873635   PMID:22045699   PMID:22082873   PMID:22318346   PMID:22473799   PMID:22761998   PMID:22770472   PMID:22818390  
PMID:22837378   PMID:22855054   PMID:22872699   PMID:22929228   PMID:22986007   PMID:23122728   PMID:23251661   PMID:23535729   PMID:23553787   PMID:23582047   PMID:23884412   PMID:23955339  
PMID:23983250   PMID:24078636   PMID:24602615   PMID:24904548   PMID:24947355   PMID:24971541   PMID:25201980   PMID:25297632   PMID:25368151   PMID:25431134   PMID:25468730   PMID:25498830  
PMID:25645916   PMID:25740420   PMID:25794864   PMID:25882839   PMID:25966694   PMID:25981959   PMID:26009177   PMID:26186194   PMID:26255430   PMID:26496610   PMID:26616647   PMID:27039371  
PMID:27048564   PMID:27048566   PMID:27098757   PMID:27108797   PMID:27108798   PMID:27184076   PMID:27430888   PMID:27588468   PMID:27862915   PMID:27880917   PMID:27908616   PMID:27995898  
PMID:28395930   PMID:28442571   PMID:28488678   PMID:28492556   PMID:28514442   PMID:28598420   PMID:28620721   PMID:28826917   PMID:29117863   PMID:29138405   PMID:29169895   PMID:29186133  
PMID:29241542   PMID:29395067   PMID:29478914   PMID:29507755   PMID:29663667   PMID:29925855   PMID:30021884   PMID:30185837   PMID:30196744   PMID:30429331   PMID:30540949   PMID:30764601  
PMID:30833792   PMID:30999914   PMID:31056421   PMID:31091453   PMID:31180492   PMID:31199789   PMID:31240132   PMID:31586073   PMID:31648575   PMID:31871319   PMID:31979185   PMID:31980649  
PMID:32877691   PMID:33375812   PMID:33949769   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34244565   PMID:34301929   PMID:34338282   PMID:34432599   PMID:34709727   PMID:34822110  
PMID:35022238   PMID:35166236   PMID:35271311   PMID:35354048  


Genomics

Comparative Map Data
ITPR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3834,493,348 - 4,847,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl34,493,345 - 4,847,506 (+)EnsemblGRCh38hg38GRCh38
GRCh3734,535,032 - 4,889,190 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3634,510,034 - 4,864,286 (+)NCBINCBI36hg18NCBI36
Build 3434,510,135 - 4,864,079NCBI
Celera34,473,120 - 4,827,522 (+)NCBI
Cytogenetic Map3p26.1NCBI
HuRef34,468,779 - 4,822,934 (+)NCBIHuRef
CHM1_134,485,103 - 4,839,760 (+)NCBICHM1_1
T2T-CHM13v2.034,487,354 - 4,841,309 (+)NCBI
Itpr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396108,190,044 - 108,528,077 (+)NCBIGRCm39mm39
GRCm39 Ensembl6108,190,057 - 108,528,070 (+)Ensembl
GRCm386108,213,083 - 108,551,116 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6108,213,096 - 108,551,109 (+)EnsemblGRCm38mm10GRCm38
MGSCv376108,163,090 - 108,501,108 (+)NCBIGRCm37mm9NCBIm37
MGSCv366108,178,895 - 108,516,886 (+)NCBImm8
Celera6110,018,018 - 110,348,287 (+)NCBICelera
Cytogenetic Map6E1- E2NCBI
cM Map649.74NCBI
Itpr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24141,187,377 - 141,554,240 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl4141,187,418 - 141,510,491 (+)Ensembl
Rnor_6.04140,247,297 - 140,580,749 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4140,247,313 - 140,580,748 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04204,714,729 - 205,047,901 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44143,705,360 - 144,030,051NCBIRGSC3.4rn4RGSC3.4
Celera4129,839,611 - 130,162,657 (+)NCBICelera
RH 3.4 Map4 RGD
Cytogenetic Map4q41NCBI
ITPR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.134,549,775 - 4,904,811 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl34,572,921 - 4,904,811 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v034,448,574 - 4,802,545 (+)NCBIMhudiblu_PPA_v0panPan3
ITPR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12012,746,171 - 13,065,256 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2012,747,315 - 13,064,198 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2012,719,920 - 13,038,750 (-)NCBI
ROS_Cfam_1.02012,789,247 - 13,108,309 (-)NCBI
ROS_Cfam_1.0 Ensembl2012,789,627 - 13,108,328 (-)Ensembl
UMICH_Zoey_3.12012,494,231 - 12,813,462 (-)NCBI
UNSW_CanFamBas_1.02012,835,196 - 13,153,754 (-)NCBI
UU_Cfam_GSD_1.02012,821,769 - 13,140,816 (-)NCBI
Itpr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494210,941,137 - 11,243,016 (+)NCBI
SpeTri2.0NW_0049365773,896,455 - 4,198,396 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITPR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1361,068,126 - 61,398,908 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11361,068,131 - 61,398,918 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21367,499,295 - 67,702,956 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ITPR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12240,574,569 - 40,925,857 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2240,574,374 - 40,926,842 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041125,743,247 - 126,095,217 (-)NCBIVero_WHO_p1.0
Itpr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477314,856,804 - 15,193,168 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462477314,856,803 - 15,193,173 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D3S1304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3736,919,306 - 6,919,572UniSTSGRCh37
GRCh3736,919,270 - 6,919,416UniSTSGRCh37
Build 3636,894,306 - 6,894,572RGDNCBI36
Celera36,856,858 - 6,857,124RGD
Celera36,856,822 - 6,856,968UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3p26UniSTS
HuRef36,853,481 - 6,853,741UniSTS
HuRef36,853,445 - 6,853,591UniSTS
Marshfield Genetic Map322.33UniSTS
Marshfield Genetic Map322.33RGD
Genethon Genetic Map316.5UniSTS
TNG Radiation Hybrid Map34774.0UniSTS
deCODE Assembly Map319.61UniSTS
Stanford-G3 RH Map3253.0UniSTS
GeneMap99-GB4 RH Map330.88UniSTS
Whitehead-RH Map337.1UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3113.0UniSTS
GeneMap99-G3 RH Map3253.0UniSTS
D3S3630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3732,700,554 - 2,700,735UniSTSGRCh37
Build 3632,675,554 - 2,675,735RGDNCBI36
Celera32,639,778 - 2,639,957RGD
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map3p26UniSTS
HuRef32,634,146 - 2,634,325UniSTS
Marshfield Genetic Map310.7UniSTS
Marshfield Genetic Map310.7RGD
Genethon Genetic Map34.9UniSTS
TNG Radiation Hybrid Map31738.0UniSTS
deCODE Assembly Map36.08UniSTS
Stanford-G3 RH Map364.0UniSTS
GeneMap99-GB4 RH Map316.82UniSTS
NCBI RH Map362.7UniSTS
GeneMap99-G3 RH Map364.0UniSTS
D8S1804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,864,668 - 124,864,876UniSTSGRCh37
Build 368124,933,849 - 124,934,057RGDNCBI36
Celera8121,052,216 - 121,052,424RGD
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map8q24.1UniSTS
Cytogenetic Map3p26.1UniSTS
HuRef8120,191,361 - 120,191,561UniSTS
Marshfield Genetic Map8131.69UniSTS
Marshfield Genetic Map8131.69RGD
Genethon Genetic Map8130.5UniSTS
TNG Radiation Hybrid Map860184.0UniSTS
deCODE Assembly Map8127.49UniSTS
D3S1560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,049,114 - 4,049,264UniSTSGRCh37
GRCh3734,048,990 - 4,049,240UniSTSGRCh37
Build 3634,023,990 - 4,024,240RGDNCBI36
Celera33,989,178 - 3,989,328UniSTS
Celera33,989,054 - 3,989,304RGD
Cytogenetic Map3p26.2UniSTS
Cytogenetic Map3p26.1UniSTS
HuRef33,984,058 - 3,984,204UniSTS
HuRef33,983,934 - 3,984,180UniSTS
Marshfield Genetic Map318.97UniSTS
Marshfield Genetic Map318.97RGD
Genethon Genetic Map312.9UniSTS
TNG Radiation Hybrid Map33664.0UniSTS
GeneMap99-GB4 RH Map323.73UniSTS
Whitehead-RH Map318.4UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map310.0UniSTS
SHGC-76664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,771,741 - 4,771,890UniSTSGRCh37
Build 3634,746,741 - 4,746,890RGDNCBI36
Celera34,709,742 - 4,709,891RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,705,249 - 4,705,398UniSTS
TNG Radiation Hybrid Map33221.0UniSTS
GeneMap99-GB4 RH Map320.27UniSTS
Whitehead-RH Map320.5UniSTS
NCBI RH Map310.0UniSTS
RH102411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,674,166 - 4,674,351UniSTSGRCh37
Build 3634,649,166 - 4,649,351RGDNCBI36
Celera34,612,170 - 4,612,355RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,607,715 - 4,607,900UniSTS
GeneMap99-GB4 RH Map320.47UniSTS
RH104411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,790,953 - 4,791,101UniSTSGRCh37
Build 3634,765,953 - 4,766,101RGDNCBI36
Celera34,728,953 - 4,729,101RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,724,441 - 4,724,589UniSTS
GeneMap99-GB4 RH Map323.93UniSTS
RH121104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,870,553 - 4,870,879UniSTSGRCh37
Build 3634,845,553 - 4,845,879RGDNCBI36
Celera34,808,551 - 4,808,877RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,803,963 - 4,804,289UniSTS
TNG Radiation Hybrid Map33163.0UniSTS
SHGC-147293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,727,064 - 4,727,388UniSTSGRCh37
Build 3634,702,064 - 4,702,388RGDNCBI36
Celera34,665,069 - 4,665,393RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,660,559 - 4,660,883UniSTS
TNG Radiation Hybrid Map33246.0UniSTS
G19634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,888,904 - 4,889,040UniSTSGRCh37
Build 3634,863,904 - 4,864,040RGDNCBI36
Celera34,826,902 - 4,827,038RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,822,312 - 4,822,448UniSTS
A001T36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,888,904 - 4,889,040UniSTSGRCh37
Build 3634,863,904 - 4,864,040RGDNCBI36
Celera34,826,902 - 4,827,038RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,822,312 - 4,822,448UniSTS
GeneMap99-GB4 RH Map321.95UniSTS
NCBI RH Map310.0UniSTS
SHGC-50648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,849,317 - 4,849,434UniSTSGRCh37
Build 3634,824,317 - 4,824,434RGDNCBI36
Celera34,787,317 - 4,787,434RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,782,737 - 4,782,854UniSTS
TNG Radiation Hybrid Map33178.0UniSTS
SHGC-153500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,568,474 - 4,568,752UniSTSGRCh37
Build 3634,543,474 - 4,543,752RGDNCBI36
Celera34,506,565 - 4,506,843RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,502,200 - 4,502,478UniSTS
SHGC-112572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,696,537 - 4,696,853UniSTSGRCh37
Build 3634,671,537 - 4,671,853RGDNCBI36
Celera34,634,542 - 4,634,858RGD
Cytogenetic Map3p26.1UniSTS
TNG Radiation Hybrid Map33269.0UniSTS
SHGC-59934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,819,318 - 4,819,447UniSTSGRCh37
Build 3634,794,318 - 4,794,447RGDNCBI36
Celera34,757,318 - 4,757,447RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,752,792 - 4,752,921UniSTS
TNG Radiation Hybrid Map33321.0UniSTS
D3S1750E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,879,483 - 4,879,628UniSTSGRCh37
Build 3634,854,483 - 4,854,628RGDNCBI36
Celera34,817,481 - 4,817,626RGD
HuRef34,812,903 - 4,813,048UniSTS
ITPR1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,888,268 - 4,888,426UniSTSGRCh37
Build 3634,863,268 - 4,863,426RGDNCBI36
Celera34,826,266 - 4,826,424RGD
HuRef34,821,676 - 4,821,834UniSTS
D3S3340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,888,158 - 4,888,490UniSTSGRCh37
Build 3634,863,158 - 4,863,490RGDNCBI36
Celera34,826,156 - 4,826,488RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,821,566 - 4,821,898UniSTS
GeneMap99-GB4 RH Map320.37UniSTS
Whitehead-RH Map323.1UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map310.0UniSTS
GeneMap99-G3 RH Map3161.0UniSTS
RH68059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,819,084 - 4,819,194UniSTSGRCh37
Build 3634,794,084 - 4,794,194RGDNCBI36
Celera34,757,084 - 4,757,194RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,752,558 - 4,752,668UniSTS
GeneMap99-GB4 RH Map323.63UniSTS
IB262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3734,888,698 - 4,888,850UniSTSGRCh37
Build 3634,863,698 - 4,863,850RGDNCBI36
Celera34,826,696 - 4,826,848RGD
Cytogenetic Map3p26.1UniSTS
HuRef34,822,106 - 4,822,258UniSTS
GeneMap99-GB4 RH Map323.83UniSTS
Whitehead-RH Map318.0UniSTS
NCBI RH Map336.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5520
Count of miRNA genes:1060
Interacting mature miRNAs:1323
Transcripts:ENST00000302640, ENST00000354582, ENST00000357086, ENST00000423119, ENST00000443694, ENST00000456211, ENST00000463980, ENST00000467056, ENST00000467545, ENST00000472205, ENST00000477577, ENST00000478515, ENST00000479831, ENST00000481415, ENST00000487016, ENST00000490572, ENST00000491868, ENST00000493491, ENST00000494681, ENST00000544951
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.


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 1682 1387 1126 115 678 7 1710 918 2164 173 785 1306 108 572 1196 1
Low 719 1522 580 489 1192 438 2640 1268 1552 244 664 288 63 632 1589 3
Below cutoff 33 80 20 19 80 20 6 9 13 2 11 17 3 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001099952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF009963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI470158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW501800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG202086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM695661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ006717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN431631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV355426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D26070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA060305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB260851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB544988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB576768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U23850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302640   ⟹   ENSP00000306253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,516,492 - 4,847,242 (+)Ensembl
RefSeq Acc Id: ENST00000354582   ⟹   ENSP00000346595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,348 - 4,847,498 (+)Ensembl
RefSeq Acc Id: ENST00000357086   ⟹   ENSP00000349597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,345 - 4,847,506 (+)Ensembl
RefSeq Acc Id: ENST00000443694   ⟹   ENSP00000401671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,453 - 4,847,395 (+)Ensembl
RefSeq Acc Id: ENST00000456211   ⟹   ENSP00000397885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,452 - 4,847,397 (+)Ensembl
RefSeq Acc Id: ENST00000463980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,799,784 - 4,847,270 (+)Ensembl
RefSeq Acc Id: ENST00000467056   ⟹   ENSP00000496995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,350 - 4,647,370 (+)Ensembl
RefSeq Acc Id: ENST00000467545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,795,000 - 4,846,343 (+)Ensembl
RefSeq Acc Id: ENST00000472205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,813,047 - 4,818,239 (+)Ensembl
RefSeq Acc Id: ENST00000477577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,536 - 4,673,442 (+)Ensembl
RefSeq Acc Id: ENST00000478515   ⟹   ENSP00000497999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,814,528 - 4,836,976 (+)Ensembl
RefSeq Acc Id: ENST00000479831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,768,267 - 4,775,334 (+)Ensembl
RefSeq Acc Id: ENST00000481415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,782,340 - 4,788,458 (+)Ensembl
RefSeq Acc Id: ENST00000487016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,724,377 - 4,735,625 (+)Ensembl
RefSeq Acc Id: ENST00000490572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,800,205 - 4,811,460 (+)Ensembl
RefSeq Acc Id: ENST00000491868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,596,140 - 4,639,409 (+)Ensembl
RefSeq Acc Id: ENST00000493491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,799,795 - 4,847,348 (+)Ensembl
RefSeq Acc Id: ENST00000494681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,711,586 - 4,735,210 (+)Ensembl
RefSeq Acc Id: ENST00000544951   ⟹   ENSP00000440564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,550 - 4,846,710 (+)Ensembl
RefSeq Acc Id: ENST00000647624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,683,513 - 4,726,869 (+)Ensembl
RefSeq Acc Id: ENST00000647673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,691,324 - 4,713,831 (+)Ensembl
RefSeq Acc Id: ENST00000647685   ⟹   ENSP00000497835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,814,619 - 4,847,154 (+)Ensembl
RefSeq Acc Id: ENST00000647708   ⟹   ENSP00000497044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,693,600 - 4,847,242 (+)Ensembl
RefSeq Acc Id: ENST00000647717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,674,969 - 4,847,103 (+)Ensembl
RefSeq Acc Id: ENST00000647900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,774,632 - 4,777,810 (+)Ensembl
RefSeq Acc Id: ENST00000647997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,804,916 - 4,847,256 (+)Ensembl
RefSeq Acc Id: ENST00000648016   ⟹   ENSP00000496893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,685,173 - 4,847,353 (+)Ensembl
RefSeq Acc Id: ENST00000648038   ⟹   ENSP00000497872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,670,886 - 4,847,184 (+)Ensembl
RefSeq Acc Id: ENST00000648208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,804,169 - 4,847,381 (+)Ensembl
RefSeq Acc Id: ENST00000648212   ⟹   ENSP00000498022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,680,678 - 4,847,380 (+)Ensembl
RefSeq Acc Id: ENST00000648266   ⟹   ENSP00000498014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,454 - 4,847,498 (+)Ensembl
RefSeq Acc Id: ENST00000648309   ⟹   ENSP00000497026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,516,487 - 4,847,326 (+)Ensembl
RefSeq Acc Id: ENST00000648390   ⟹   ENSP00000497404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,706,167 - 4,847,293 (+)Ensembl
RefSeq Acc Id: ENST00000648431   ⟹   ENSP00000498149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,675,141 - 4,847,286 (+)Ensembl
RefSeq Acc Id: ENST00000648510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,775,429 - 4,797,790 (+)Ensembl
RefSeq Acc Id: ENST00000648564   ⟹   ENSP00000497186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,706,198 - 4,735,309 (+)Ensembl
RefSeq Acc Id: ENST00000648770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,804,242 - 4,847,380 (+)Ensembl
RefSeq Acc Id: ENST00000649015   ⟹   ENSP00000497605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,348 - 4,847,506 (+)Ensembl
RefSeq Acc Id: ENST00000649051   ⟹   ENSP00000497851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,639,384 - 4,671,786 (+)Ensembl
RefSeq Acc Id: ENST00000649139   ⟹   ENSP00000497226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,814,609 - 4,847,434 (+)Ensembl
RefSeq Acc Id: ENST00000649144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,711,601 - 4,847,270 (+)Ensembl
RefSeq Acc Id: ENST00000649272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,783,296 - 4,788,432 (+)Ensembl
RefSeq Acc Id: ENST00000649314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,804,198 - 4,847,220 (+)Ensembl
RefSeq Acc Id: ENST00000649414   ⟹   ENSP00000497099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,699,831 - 4,738,325 (+)Ensembl
RefSeq Acc Id: ENST00000649425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,710,433 - 4,718,226 (+)Ensembl
RefSeq Acc Id: ENST00000649430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,814,323 - 4,847,451 (+)Ensembl
RefSeq Acc Id: ENST00000649669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,345 - 4,521,164 (+)Ensembl
RefSeq Acc Id: ENST00000649694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,730,383 - 4,847,370 (+)Ensembl
RefSeq Acc Id: ENST00000649767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,799,125 - 4,847,248 (+)Ensembl
RefSeq Acc Id: ENST00000649908   ⟹   ENSP00000497614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,814,639 - 4,847,181 (+)Ensembl
RefSeq Acc Id: ENST00000650074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,799,741 - 4,847,304 (+)Ensembl
RefSeq Acc Id: ENST00000650079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,644,618 - 4,649,468 (+)Ensembl
RefSeq Acc Id: ENST00000650139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,798,730 - 4,847,372 (+)Ensembl
RefSeq Acc Id: ENST00000650146   ⟹   ENSP00000497139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,673,294 - 4,676,195 (+)Ensembl
RefSeq Acc Id: ENST00000650294   ⟹   ENSP00000498056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,493,561 - 4,847,206 (+)Ensembl
RefSeq Acc Id: ENST00000650552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl34,804,213 - 4,847,353 (+)Ensembl
RefSeq Acc Id: NM_001099952   ⟹   NP_001093422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3834,493,348 - 4,847,506 (+)NCBI
GRCh3734,535,032 - 4,889,524 (+)ENTREZGENE
Build 3634,510,034 - 4,864,286 (+)NCBI Archive
HuRef34,468,779 - 4,822,934 (+)ENTREZGENE
CHM1_134,485,103 - 4,839,760 (+)NCBI
T2T-CHM13v2.034,487,354 - 4,841,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001168272   ⟹   NP_001161744
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3834,493,348 - 4,847,506 (+)NCBI
GRCh3734,535,032 - 4,889,524 (+)ENTREZGENE
HuRef34,468,779 - 4,822,934 (+)ENTREZGENE
CHM1_134,485,103 - 4,839,760 (+)NCBI
T2T-CHM13v2.034,487,354 - 4,841,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378452   ⟹   NP_001365381
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3834,493,348 - 4,847,506 (+)NCBI
T2T-CHM13v2.034,487,354 - 4,841,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002222   ⟹   NP_002213
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3834,493,348 - 4,847,506 (+)NCBI
GRCh3734,535,032 - 4,889,524 (+)ENTREZGENE
Build 3634,510,034 - 4,864,286 (+)NCBI Archive
HuRef34,468,779 - 4,822,934 (+)ENTREZGENE
CHM1_134,485,103 - 4,839,760 (+)NCBI
T2T-CHM13v2.034,487,354 - 4,841,309 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001093422   ⟸   NM_001099952
- Peptide Label: isoform 1
- UniProtKB: Q14643 (UniProtKB/Swiss-Prot),   B4DER3 (UniProtKB/TrEMBL),   Q59H91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161744   ⟸   NM_001168272
- Peptide Label: isoform 3
- UniProtKB: Q14643 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002213   ⟸   NM_002222
- Peptide Label: isoform 2
- UniProtKB: Q14643 (UniProtKB/Swiss-Prot),   B4DER3 (UniProtKB/TrEMBL),   B4DGH1 (UniProtKB/TrEMBL),   Q59H91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365381   ⟸   NM_001378452
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000498022   ⟸   ENST00000648212
RefSeq Acc Id: ENSP00000497872   ⟸   ENST00000648038
RefSeq Acc Id: ENSP00000496893   ⟸   ENST00000648016
RefSeq Acc Id: ENSP00000497186   ⟸   ENST00000648564
RefSeq Acc Id: ENSP00000498149   ⟸   ENST00000648431
RefSeq Acc Id: ENSP00000497404   ⟸   ENST00000648390
RefSeq Acc Id: ENSP00000497026   ⟸   ENST00000648309
RefSeq Acc Id: ENSP00000498014   ⟸   ENST00000648266
RefSeq Acc Id: ENSP00000497099   ⟸   ENST00000649414
RefSeq Acc Id: ENSP00000497226   ⟸   ENST00000649139
RefSeq Acc Id: ENSP00000497614   ⟸   ENST00000649908
RefSeq Acc Id: ENSP00000497605   ⟸   ENST00000649015
RefSeq Acc Id: ENSP00000497851   ⟸   ENST00000649051
RefSeq Acc Id: ENSP00000497999   ⟸   ENST00000478515
RefSeq Acc Id: ENSP00000440564   ⟸   ENST00000544951
RefSeq Acc Id: ENSP00000496995   ⟸   ENST00000467056
RefSeq Acc Id: ENSP00000498056   ⟸   ENST00000650294
RefSeq Acc Id: ENSP00000497139   ⟸   ENST00000650146
RefSeq Acc Id: ENSP00000397885   ⟸   ENST00000456211
RefSeq Acc Id: ENSP00000401671   ⟸   ENST00000443694
RefSeq Acc Id: ENSP00000346595   ⟸   ENST00000354582
RefSeq Acc Id: ENSP00000306253   ⟸   ENST00000302640
RefSeq Acc Id: ENSP00000349597   ⟸   ENST00000357086
RefSeq Acc Id: ENSP00000497044   ⟸   ENST00000647708
RefSeq Acc Id: ENSP00000497835   ⟸   ENST00000647685
Protein Domains
Ion_trans   MIR   RIH_assoc   RYDR_ITPR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14643-F1-model_v2 AlphaFold Q14643 1-1400 view protein structure
AF-Q14643-F2-model_v2 AlphaFold Q14643 201-1600 view protein structure
AF-Q14643-F3-model_v2 AlphaFold Q14643 401-1800 view protein structure
AF-Q14643-F4-model_v2 AlphaFold Q14643 601-2000 view protein structure
AF-Q14643-F5-model_v2 AlphaFold Q14643 801-2200 view protein structure
AF-Q14643-F6-model_v2 AlphaFold Q14643 1001-2400 view protein structure
AF-Q14643-F7-model_v2 AlphaFold Q14643 1201-2600 view protein structure
AF-Q14643-F8-model_v2 AlphaFold Q14643 1401-2758 view protein structure

Promoters
RGD ID:6863424
Promoter ID:EPDNEW_H4877
Type:multiple initiation site
Name:ITPR1_1
Description:inositol 1,4,5-trisphosphate receptor type 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3834,493,348 - 4,493,408EPDNEW
RGD ID:6800536
Promoter ID:HG_KWN:43493
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354582,   ENST00000356617,   NM_001099952,   NM_001168272,   NM_002222,   OTTHUMT00000337977,   OTTHUMT00000337979,   OTTHUMT00000337980,   OTTHUMT00000337981,   UC010HCA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3634,509,076 - 4,510,117 (-)MPROMDB
RGD ID:6801184
Promoter ID:HG_KWN:43495
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000338185
Position:
Human AssemblyChrPosition (strand)Source
Build 3634,612,326 - 4,612,826 (+)MPROMDB
RGD ID:6801186
Promoter ID:HG_KWN:43498
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000337986,   OTTHUMT00000343585
Position:
Human AssemblyChrPosition (strand)Source
Build 3634,728,039 - 4,728,539 (+)MPROMDB
RGD ID:6801187
Promoter ID:HG_KWN:43501
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000343586
Position:
Human AssemblyChrPosition (strand)Source
Build 3634,783,731 - 4,784,231 (+)MPROMDB
RGD ID:6801190
Promoter ID:HG_KWN:43502
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000343587
Position:
Human AssemblyChrPosition (strand)Source
Build 3634,798,831 - 4,799,331 (+)MPROMDB
RGD ID:6801173
Promoter ID:HG_KWN:43503
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000343589,   UC010HCC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3634,811,531 - 4,812,031 (+)MPROMDB
RGD ID:6801192
Promoter ID:HG_KWN:43506
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:OTTHUMT00000343591
Position:
Human AssemblyChrPosition (strand)Source
Build 3634,830,536 - 4,831,412 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378452.1(ITPR1):c.6155G>C (p.Cys2052Ser) single nucleotide variant not specified [RCV000518190] Chr3:4775417 [GRCh38]
Chr3:4817101 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV001148041]|not provided [RCV000898003]|not specified [RCV000517803] Chr3:4775379 [GRCh38]
Chr3:4817063 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.4843-8C>T single nucleotide variant Autosomal dominant cerebellar ataxia [RCV001149471]|Intellectual disability [RCV001251783]|not provided [RCV000899900]|not specified [RCV000516490] Chr3:4710317 [GRCh38]
Chr3:4752001 [GRCh37]
Chr3:3p26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001378452.1(ITPR1):c.1832C>A (p.Thr611Asn) single nucleotide variant not provided [RCV000519498] Chr3:4667495 [GRCh38]
Chr3:4709179 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.7854G>A (p.Thr2618=) single nucleotide variant not provided [RCV001851442]|not specified [RCV000517168] Chr3:4815205 [GRCh38]
Chr3:4856889 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.780G>A (p.Gln260=) single nucleotide variant not specified [RCV000517912] Chr3:4645653 [GRCh38]
Chr3:4687337 [GRCh37]
Chr3:3p26.1
likely benign
NM_001378452.1(ITPR1):c.361A>T (p.Ile121Phe) single nucleotide variant not specified [RCV000518596] Chr3:4639465 [GRCh38]
Chr3:4681149 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.188T>C (p.Met63Thr) single nucleotide variant not specified [RCV000518802] Chr3:4627787 [GRCh38]
Chr3:4669471 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.7506C>T (p.Ser2502=) single nucleotide variant not provided [RCV000889748]|not specified [RCV000518831] Chr3:4813179 [GRCh38]
Chr3:4854863 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys) single nucleotide variant Inborn genetic diseases [RCV000624199]|Spinocerebellar ataxia type 29 [RCV000677367]|not provided [RCV000519089] Chr3:4645609 [GRCh38]
Chr3:4687293 [GRCh37]
Chr3:3p26.1
pathogenic|likely pathogenic|uncertain significance
NM_001378452.1(ITPR1):c.4051G>A (p.Val1351Ile) single nucleotide variant not provided [RCV000519162] Chr3:4693511 [GRCh38]
Chr3:4735195 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.2733G>A (p.Ala911=) single nucleotide variant not provided [RCV002060241]|not specified [RCV000517656] Chr3:4675202 [GRCh38]
Chr3:4716886 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV001145693]|not provided [RCV000894011]|not specified [RCV000516311] Chr3:4645662 [GRCh38]
Chr3:4687346 [GRCh37]
Chr3:3p26.1
benign|likely benign|uncertain significance
NM_001378452.1(ITPR1):c.4719C>G (p.Leu1573=) single nucleotide variant not specified [RCV000518388] Chr3:4706228 [GRCh38]
Chr3:4747912 [GRCh37]
Chr3:3p26.1
likely benign
NM_001378452.1(ITPR1):c.4030-17C>T single nucleotide variant not provided [RCV001544935] Chr3:4693473 [GRCh38]
Chr3:4735157 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.7659C>T (p.Ser2553=) single nucleotide variant not provided [RCV000516418] Chr3:4814520 [GRCh38]
Chr3:4856204 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.3916G>A (p.Val1306Ile) single nucleotide variant not specified [RCV000518092] Chr3:4691231 [GRCh38]
Chr3:4732915 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV001150140]|not provided [RCV000930877]|not specified [RCV000518459] Chr3:4818200 [GRCh38]
Chr3:4859884 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.7528G>A (p.Gly2510Arg) single nucleotide variant not provided [RCV001857906]|not specified [RCV000518003] Chr3:4813201 [GRCh38]
Chr3:4854885 [GRCh37]
Chr3:3p26.1
uncertain significance
NC_000003.12:g.(4480596_4480597)_(4793914_4793915)del deletion Spinocerebellar ataxia type 16 [RCV000015923] Chr3:4480597..4793914 [GRCh38]
Chr3:3p26-p25
pathogenic
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu) single nucleotide variant Spinocerebellar ataxia type 16 [RCV000015924] Chr3:4683472 [GRCh38]
Chr3:4725156 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) single nucleotide variant Inborn genetic diseases [RCV000624908]|Spinocerebellar ataxia type 29 [RCV000032771]|not provided [RCV001091682] Chr3:4706193 [GRCh38]
Chr3:4747877 [GRCh37]
Chr3:3p26.1
pathogenic|likely pathogenic
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp) single nucleotide variant Spinocerebellar ataxia type 29 [RCV000032772] Chr3:4667467 [GRCh38]
Chr3:4709151 [GRCh37]
Chr3:3p26.1
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1 copy number loss See cases [RCV000050822] Chr3:1984526..6852981 [GRCh38]
Chr3:2026210..6894668 [GRCh37]
Chr3:2001210..6869668 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1 copy number loss See cases [RCV000051474] Chr3:52266..8582037 [GRCh38]
Chr3:93949..8623723 [GRCh37]
Chr3:68949..8598723 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1 copy number loss See cases [RCV000051475] Chr3:63843..6977502 [GRCh38]
Chr3:105526..7019189 [GRCh37]
Chr3:80526..6994189 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1 copy number loss See cases [RCV000051476] Chr3:63843..9507969 [GRCh38]
Chr3:105526..9549653 [GRCh37]
Chr3:80526..9524653 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:63843-4708786)x1 copy number loss See cases [RCV000051477] Chr3:63843..4708786 [GRCh38]
Chr3:105526..4750470 [GRCh37]
Chr3:80526..4725470 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1 copy number loss See cases [RCV000051478] Chr3:63843..8258109 [GRCh38]
Chr3:105526..8299796 [GRCh37]
Chr3:80526..8274796 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 copy number loss See cases [RCV000051447] Chr3:52266..11089569 [GRCh38]
Chr3:93949..11131255 [GRCh37]
Chr3:68949..11106255 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.1(chr3:4746966-5426775)x1 copy number loss See cases [RCV000053924] Chr3:4746966..5426775 [GRCh38]
Chr3:4788650..5468461 [GRCh37]
Chr3:4763650..5443461 [NCBI36]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.4155C>T (p.Ile1385=) single nucleotide variant not provided [RCV002211548] Chr3:4693615 [GRCh38]
Chr3:4735299 [GRCh37]
Chr3:4710299 [NCBI36]
Chr3:3p26.1
likely benign|not provided
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000369453]|Gillespie syndrome [RCV001730526]|Spinocerebellar ataxia type 16 [RCV001730527]|Spinocerebellar ataxia type 29 [RCV000987082]|not provided [RCV000992190]|not specified [RCV000117299] Chr3:4670729 [GRCh38]
Chr3:4712413 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000323015]|Gillespie syndrome [RCV001730528]|Spinocerebellar ataxia type 16 [RCV001730529]|Spinocerebellar ataxia type 29 [RCV001730530]|not provided [RCV001521930]|not specified [RCV000117300] Chr3:4675127 [GRCh38]
Chr3:4716811 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000341769]|not provided [RCV001519214]|not specified [RCV000117301] Chr3:4788027 [GRCh38]
Chr3:4829711 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000404506]|not provided [RCV001521932]|not specified [RCV000117302] Chr3:4788048 [GRCh38]
Chr3:4829732 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000404711]|Gillespie syndrome [RCV001730531]|Spinocerebellar ataxia type 16 [RCV001730532]|Spinocerebellar ataxia type 29 [RCV001730533]|not provided [RCV001521933]|not specified [RCV000117303] Chr3:4800547 [GRCh38]
Chr3:4842231 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000288234]|Gillespie syndrome [RCV001730534]|Spinocerebellar ataxia type 16 [RCV001730535]|Spinocerebellar ataxia type 29 [RCV001730536]|not provided [RCV000992209]|not specified [RCV000117304] Chr3:4814496 [GRCh38]
Chr3:4856180 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000379072]|Gillespie syndrome [RCV001730537]|Spinocerebellar ataxia type 16 [RCV001730538]|Spinocerebellar ataxia type 29 [RCV001730539]|not provided [RCV000992211]|not specified [RCV000117305] Chr3:4814550 [GRCh38]
Chr3:4856234 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.2007-3T>C single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000314715]|Intellectual disability [RCV001251787]|not provided [RCV000488294]|not specified [RCV000175427] Chr3:4670726 [GRCh38]
Chr3:4712410 [GRCh37]
Chr3:3p26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000330034]|not provided [RCV000966313]|not specified [RCV000176058] Chr3:4673157 [GRCh38]
Chr3:4714841 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) single nucleotide variant Inborn genetic diseases [RCV000190812]|Spinocerebellar ataxia type 29 [RCV000677366]|not provided [RCV001552791] Chr3:4645673 [GRCh38]
Chr3:4687357 [GRCh37]
Chr3:3p26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1 copy number loss See cases [RCV000134257] Chr3:32241..5791120 [GRCh38]
Chr3:73914..5832807 [GRCh37]
Chr3:48914..5807807 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.1(chr3:4520943-4952817)x3 copy number gain See cases [RCV000134987] Chr3:4520943..4952817 [GRCh38]
Chr3:4562627..4994502 [GRCh37]
Chr3:4537627..4969502 [NCBI36]
Chr3:3p26.1
uncertain significance
GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1 copy number loss See cases [RCV000135586] Chr3:52266..5138262 [GRCh38]
Chr3:93949..5179947 [GRCh37]
Chr3:68949..5154947 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1 copy number loss See cases [RCV000136600] Chr3:2920886..5861108 [GRCh38]
Chr3:2962570..5902795 [GRCh37]
Chr3:2937570..5877795 [NCBI36]
Chr3:3p26.2-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1 copy number loss See cases [RCV000137109] Chr3:52266..9450310 [GRCh38]
Chr3:93949..9491994 [GRCh37]
Chr3:68949..9466994 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.1(chr3:4433667-4521002)x1 copy number loss See cases [RCV000137127] Chr3:4433667..4521002 [GRCh38]
Chr3:4475351..4562686 [GRCh37]
Chr3:4450351..4537686 [NCBI36]
Chr3:3p26.1
uncertain significance
GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1 copy number loss See cases [RCV000136675] Chr3:52266..6277604 [GRCh38]
Chr3:93949..6319291 [GRCh37]
Chr3:68949..6294291 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.1(chr3:4803434-6476213)x3 copy number gain See cases [RCV000137290] Chr3:4803434..6476213 [GRCh38]
Chr3:4845118..6517900 [GRCh37]
Chr3:4820118..6492900 [NCBI36]
Chr3:3p26.1
uncertain significance
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1 copy number loss See cases [RCV000138552] Chr3:32241..6065999 [GRCh38]
Chr3:73914..6107686 [GRCh37]
Chr3:48914..6082686 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1 copy number loss See cases [RCV000138287] Chr3:32241..7056717 [GRCh38]
Chr3:73914..7098404 [GRCh37]
Chr3:48914..7073404 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 copy number loss See cases [RCV000138376] Chr3:32241..11379835 [GRCh38]
Chr3:73914..11421309 [GRCh37]
Chr3:48914..11396309 [NCBI36]
Chr3:3p26.3-25.3
pathogenic|likely benign
GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1 copy number loss See cases [RCV000139253] Chr3:32241..9469506 [GRCh38]
Chr3:73914..9511190 [GRCh37]
Chr3:48914..9486190 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1 copy number loss See cases [RCV000139164] Chr3:52747..8370373 [GRCh38]
Chr3:94430..8412059 [GRCh37]
Chr3:69430..8387059 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1 copy number loss See cases [RCV000140239] Chr3:32241..9574994 [GRCh38]
Chr3:73914..9616678 [GRCh37]
Chr3:48914..9591678 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3 copy number gain See cases [RCV000141319] Chr3:32241..8165256 [GRCh38]
Chr3:73914..8206943 [GRCh37]
Chr3:48914..8181943 [NCBI36]
Chr3:3p26.3-25.3
likely pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1 copy number loss See cases [RCV000140848] Chr3:32241..9066287 [GRCh38]
Chr3:73914..9107971 [GRCh37]
Chr3:48914..9082971 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1
pathogenic
GRCh38/hg38 3p26.2-26.1(chr3:3383802-6623172)x3 copy number gain See cases [RCV000141838] Chr3:3383802..6623172 [GRCh38]
Chr3:3425486..6664859 [GRCh37]
Chr3:3400486..6639859 [NCBI36]
Chr3:3p26.2-26.1
uncertain significance
GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1 copy number loss See cases [RCV000141647] Chr3:2891585..5911622 [GRCh38]
Chr3:2933269..5953309 [GRCh37]
Chr3:2908269..5928309 [NCBI36]
Chr3:3p26.2-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 copy number loss See cases [RCV000141731] Chr3:20213..11221602 [GRCh38]
Chr3:61891..11263288 [GRCh37]
Chr3:36891..11238288 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1 copy number loss See cases [RCV000142284] Chr3:20213..9362037 [GRCh38]
Chr3:61891..9403721 [GRCh37]
Chr3:36891..9378721 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.1(chr3:4827431-5187097)x3 copy number gain See cases [RCV000142660] Chr3:4827431..5187097 [GRCh38]
Chr3:4869115..5228782 [GRCh37]
Chr3:4844115..5203782 [NCBI36]
Chr3:3p26.1
uncertain significance
GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1 copy number loss See cases [RCV000142736] Chr3:52266..4827490 [GRCh38]
Chr3:93949..4869174 [GRCh37]
Chr3:68949..4844174 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3 copy number gain See cases [RCV000142519] Chr3:52266..5966084 [GRCh38]
Chr3:93949..6007771 [GRCh37]
Chr3:68949..5982771 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 copy number loss See cases [RCV000143325] Chr3:32241..10323124 [GRCh38]
Chr3:73914..10364808 [GRCh37]
Chr3:48914..10339808 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 copy number loss See cases [RCV000143173] Chr3:32241..10631310 [GRCh38]
Chr3:73914..10672995 [GRCh37]
Chr3:48914..10647995 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.1(chr3:4471708-4531661)x1 copy number loss See cases [RCV000143757] Chr3:4471708..4531661 [GRCh38]
Chr3:4513392..4573345 [GRCh37]
Chr3:4488392..4548345 [NCBI36]
Chr3:3p26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1 copy number loss See cases [RCV000143706] Chr3:688897..11051142 [GRCh38]
Chr3:730581..11092828 [GRCh37]
Chr3:705581..11067828 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) single nucleotide variant Gillespie syndrome [RCV000995787]|Inborn genetic diseases [RCV000623132]|Spinocerebellar ataxia type 29 [RCV000677359]|Spinocerebellar ataxia type 29 [RCV000850563]|not provided [RCV000254736] Chr3:4645678 [GRCh38]
Chr3:4687362 [GRCh37]
Chr3:3p26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) single nucleotide variant not provided [RCV000724027]|not specified [RCV000179176] Chr3:4818173 [GRCh38]
Chr3:4859857 [GRCh37]
Chr3:3p26.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000359508]|not provided [RCV000177981]|not specified [RCV001657958] Chr3:4733132 [GRCh38]
Chr3:4774816 [GRCh37]
Chr3:3p26.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000261148] Chr3:4735213 [GRCh38]
Chr3:4776897 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000264786] Chr3:4733149 [GRCh38]
Chr3:4774833 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile) single nucleotide variant Spinocerebellar ataxia type 29 [RCV000198932] Chr3:4645703 [GRCh38]
Chr3:4687387 [GRCh37]
Chr3:3p26.1
likely pathogenic
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr) single nucleotide variant not provided [RCV001305645]|not specified [RCV000194271] Chr3:4670896 [GRCh38]
Chr3:4712580 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000262699]|Spinocerebellar ataxia type 15/16 [RCV000625898]|not provided [RCV000881113]|not specified [RCV000298823] Chr3:4691209 [GRCh38]
Chr3:4732893 [GRCh37]
Chr3:3p26.1
likely pathogenic|benign|likely benign
GRCh37/hg19 3p26.1(chr3:4726822-5164213)x4 copy number gain Ductal breast carcinoma [RCV000207193] Chr3:4726822..5164213 [GRCh37]
Chr3:3p26.1
uncertain significance
GRCh37/hg19 3p26.1(chr3:4706901-5216065)x3 copy number gain Ductal breast carcinoma [RCV000207046] Chr3:4706901..5216065 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.1252-2A>T single nucleotide variant Gillespie syndrome [RCV000754783] Chr3:4662080 [GRCh38]
Chr3:4703764 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.2979_2980insTATA (p.Val994fs) insertion Gillespie syndrome [RCV000578130] Chr3:4680564..4680565 [GRCh38]
Chr3:4722248..4722249 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.2967+153C>G single nucleotide variant not provided [RCV001571187] Chr3:4676954 [GRCh38]
Chr3:4718638 [GRCh37]
Chr3:3p26.1
likely benign
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu) single nucleotide variant Spinocerebellar ataxia type 16 [RCV000209834]|not provided [RCV001310467] Chr3:4815135 [GRCh38]
Chr3:4856819 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala) single nucleotide variant Spinocerebellar ataxia type 29 [RCV000235044] Chr3:4815135 [GRCh38]
Chr3:4856819 [GRCh37]
Chr3:3p26.1
likely pathogenic
NM_001378452.1(ITPR1):c.6326A>G (p.Glu2109Gly) single nucleotide variant Gillespie syndrome [RCV000224992] Chr3:4779584 [GRCh38]
Chr3:4821268 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.2182C>T (p.Arg728Ter) single nucleotide variant Gillespie syndrome [RCV000224993] Chr3:4670904 [GRCh38]
Chr3:4712588 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.7828AAG[1] (p.Lys2611del) microsatellite Gillespie syndrome [RCV000224994]|Inborn genetic diseases [RCV001265870] Chr3:4815177..4815179 [GRCh38]
Chr3:4856861..4856863 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.7803T>G (p.Phe2601Leu) single nucleotide variant Gillespie syndrome [RCV000224997] Chr3:4815154 [GRCh38]
Chr3:4856838 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.6510+3A>T single nucleotide variant Gillespie syndrome [RCV000224998] Chr3:4782744 [GRCh38]
Chr3:4824428 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.4699C>T (p.Gln1567Ter) single nucleotide variant Gillespie syndrome [RCV000224999] Chr3:4706208 [GRCh38]
Chr3:4747892 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.6808+5G>T single nucleotide variant Gillespie syndrome [RCV000225000] Chr3:4788144 [GRCh38]
Chr3:4829828 [GRCh37]
Chr3:3p26.1
pathogenic|likely pathogenic
NM_001378452.1(ITPR1):c.7660G>C (p.Gly2554Arg) single nucleotide variant Gillespie syndrome [RCV000224996]|not provided [RCV001531555] Chr3:4814521 [GRCh38]
Chr3:4856205 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) single nucleotide variant Anterior segment dysgenesis [RCV001200032]|Gillespie syndrome [RCV000224995]|Inborn genetic diseases [RCV000622922]|Spinocerebellar ataxia type 29 [RCV001542744]|not provided [RCV001092121] Chr3:4814521 [GRCh38]
Chr3:4856205 [GRCh37]
Chr3:3p26.1
pathogenic|likely pathogenic
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000329966]|not provided [RCV000513687]|not specified [RCV000260076] Chr3:4766606 [GRCh38]
Chr3:4808290 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000312935]|not provided [RCV000958523]|not specified [RCV000318051] Chr3:4683431 [GRCh38]
Chr3:4725115 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.2455G>T (p.Asp819Tyr) single nucleotide variant Inborn genetic diseases [RCV000622414] Chr3:4673386 [GRCh38]
Chr3:4715070 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.1699T>C (p.Tyr567His) single nucleotide variant Inborn genetic diseases [RCV000623162] Chr3:4665282 [GRCh38]
Chr3:4706966 [GRCh37]
Chr3:3p26.1
likely pathogenic|uncertain significance
NM_001378452.1(ITPR1):c.*1196T>C single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000278370] Chr3:4847421 [GRCh38]
Chr3:4889105 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000278808]|not provided [RCV000903014]|not specified [RCV001288222] Chr3:4680642 [GRCh38]
Chr3:4722326 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.*549G>T single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000285083] Chr3:4846774 [GRCh38]
Chr3:4888458 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.1412+11C>T single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000286031]|not provided [RCV001511767] Chr3:4662253 [GRCh38]
Chr3:4703937 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.-244G>A single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000286459] Chr3:4493454 [GRCh38]
Chr3:4535138 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000286727]|not provided [RCV000956066]|not specified [RCV001288220] Chr3:4673370 [GRCh38]
Chr3:4715054 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.-103C>T single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000280503] Chr3:4493595 [GRCh38]
Chr3:4535279 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_002222.6(ITPR1):c.*1347G>T single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000281830] Chr3:4847572 [GRCh38]
Chr3:4889256 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000283125]|not specified [RCV001660721] Chr3:4676696 [GRCh38]
Chr3:4718380 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000274072]|not provided [RCV001861218] Chr3:4846196 [GRCh38]
Chr3:4887880 [GRCh37]
Chr3:3p26.1
uncertain significance
GRCh37/hg19 3p26.1(chr3:4134224-4665869)x1 copy number loss See cases [RCV000240381] Chr3:4134224..4665869 [GRCh37]
Chr3:3p26.1
pathogenic
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000274895] Chr3:4735339 [GRCh38]
Chr3:4777023 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.2204+14G>A single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000274970] Chr3:4670940 [GRCh38]
Chr3:4712624 [GRCh37]
Chr3:3p26.1
uncertain significance
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000269615]|Spinocerebellar ataxia type 29 [RCV000677365]|not provided [RCV000971867] Chr3:4683761 [GRCh38]
Chr3:4725445 [GRCh37]
Chr3:3p26.1
benign|likely benign
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000275173]|not provided [RCV001552373]|not specified [RCV000517772] Chr3:4811381 [GRCh38]
Chr