ITGA1 (integrin subunit alpha 1) - Rat Genome Database

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Advanced Search (OLGA)
Gene: ITGA1 (integrin subunit alpha 1) Homo sapiens
Analyze
Symbol: ITGA1
Name: integrin subunit alpha 1
RGD ID: 69006
HGNC Page HGNC:6134
Description: Enables collagen binding activity involved in cell-matrix adhesion and protein phosphatase binding activity. Involved in cell-matrix adhesion and negative regulation of cell population proliferation. Located in cell surface and focal adhesion. Part of integrin alpha1-beta1 complex. Biomarker of breast cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD49 antigen-like family member A; CD49a; integrin alpha 1; integrin alpha-1; integrin, alpha 1; laminin and collagen receptor; very late activation protein 1; very late antigen-1; VLA-1; VLA1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38552,787,916 - 52,959,209 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl552,787,916 - 52,959,209 (+)EnsemblGRCh38hg38GRCh38
GRCh37552,083,750 - 52,255,039 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36552,119,893 - 52,285,242 (+)NCBINCBI36Build 36hg18NCBI36
Build 34552,119,892 - 52,285,241NCBI
Celera549,037,686 - 49,203,085 (+)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef549,055,982 - 49,221,542 (+)NCBIHuRef
CHM1_1552,086,786 - 52,252,111 (+)NCBICHM1_1
T2T-CHM13v2.0553,615,621 - 53,786,944 (+)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
(+)-pilocarpine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dichloroaniline  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
Allylamine  (ISO)
aluminium oxide  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
berberine  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
corticosterone  (ISO)
crocidolite asbestos  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
diuron  (EXP,ISO)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
geldanamycin  (EXP)
genistein  (ISO)
indometacin  (ISO)
ivermectin  (EXP)
leflunomide  (EXP)
medroxyprogesterone acetate  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP)
Methylazoxymethanol acetate  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paclitaxel  (EXP)
perfluorobutanesulfonic acid  (EXP)
perfluorodecanoic acid  (EXP)
perfluorododecanoic acid  (EXP)
perfluoroheptanoic acid  (EXP)
perfluorooctanesulfonamide  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
poly(I:C)  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (EXP,ISO)
trichostatin A  (EXP)
triclosan  (EXP)
urethane  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Integrin expression on normal and neoplastic human breast epithelium. Damjanovich L, etal., Acta Chir Hung. 1997;36(1-4):69-71.
2. Integrin signaling in inflammatory and neuropathic pain in the rat. Dina OA, etal., Eur J Neurosci. 2004 Feb;19(3):634-42.
3. Primary afferent second messenger cascades interact with specific integrin subunits in producing inflammatory hyperalgesia. Dina OA, etal., Pain. 2005 May;115(1-2):191-203.
4. Molecular cloning of the rat integrin alpha 1-subunit: a receptor for laminin and collagen. Ignatius MJ, etal., J Cell Biol 1990 Aug;111(2):709-20.
5. Differential expression of alpha 1, alpha 3 and alpha 5 integrin subunits in acute and chronic stages of myocardial infarction in rats. Nawata J, etal., Cardiovasc Res 1999 Aug 1;43(2):371-81.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Genetic deletion or antibody blockade of alpha1beta1 integrin induces a stable plaque phenotype in ApoE-/- mice. Schapira K, etal., Arterioscler Thromb Vasc Biol. 2005 Sep;25(9):1917-24. Epub 2005 Jun 23.
10. The integrins. Takada Y, etal., Genome Biol. 2007;8(5):215.
11. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1429908   PMID:1690718   PMID:1693624   PMID:1807406   PMID:1827128   PMID:2099238   PMID:2144294   PMID:2169872   PMID:2229189   PMID:2341567   PMID:3033641   PMID:3546305  
PMID:7493648   PMID:7681433   PMID:7806264   PMID:7897185   PMID:8387021   PMID:8428973   PMID:8557756   PMID:8717325   PMID:8814241   PMID:8898357   PMID:9139675   PMID:9154536  
PMID:9688542   PMID:9699516   PMID:10094488   PMID:10196235   PMID:10455165   PMID:10457223   PMID:10595787   PMID:10666376   PMID:10684262   PMID:10713152   PMID:10714390   PMID:11307375  
PMID:11336656   PMID:11454259   PMID:11518510   PMID:11572855   PMID:11877061   PMID:11937138   PMID:12042322   PMID:12078857   PMID:12477932   PMID:12482545   PMID:12662928   PMID:12694973  
PMID:12734939   PMID:12883474   PMID:12887919   PMID:14627618   PMID:14660600   PMID:14702039   PMID:15109703   PMID:15132990   PMID:15372022   PMID:15485856   PMID:15592458   PMID:15679046  
PMID:16008586   PMID:16043429   PMID:16335952   PMID:16412752   PMID:16472776   PMID:16754661   PMID:17312461   PMID:17603494   PMID:17669516   PMID:17891451   PMID:17931993   PMID:17982677  
PMID:18048918   PMID:18081024   PMID:18269595   PMID:18377961   PMID:18454440   PMID:18587047   PMID:18647959   PMID:18813796   PMID:19056867   PMID:19397781   PMID:19581412   PMID:19730683  
PMID:19780039   PMID:19850917   PMID:19913121   PMID:19933311   PMID:19946888   PMID:20232313   PMID:20436081   PMID:20531279   PMID:20563599   PMID:20628086   PMID:21423176   PMID:21521694  
PMID:21647271   PMID:21873635   PMID:21946350   PMID:21947080   PMID:21965670   PMID:22001757   PMID:22002573   PMID:22020760   PMID:22030389   PMID:22298882   PMID:22451694   PMID:22698912  
PMID:22847004   PMID:22919661   PMID:23070086   PMID:23284291   PMID:23284937   PMID:23419831   PMID:23448258   PMID:23658023   PMID:23819010   PMID:24018042   PMID:24124332   PMID:24164540  
PMID:24187131   PMID:24823363   PMID:24927181   PMID:25436638   PMID:25550552   PMID:25672754   PMID:25808196   PMID:26096932   PMID:26186194   PMID:26496610   PMID:27294728   PMID:27342747  
PMID:27929375   PMID:28318877   PMID:28514442   PMID:28809852   PMID:28855593   PMID:28952190   PMID:29079572   PMID:29504106   PMID:29507755   PMID:29761640   PMID:29937357   PMID:29961565  
PMID:30024968   PMID:30550785   PMID:31541017   PMID:31871319   PMID:32753478   PMID:32801337   PMID:32986180   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34566986   PMID:34906278  
PMID:35013194   PMID:35060996   PMID:35696571   PMID:36301458   PMID:36517525   PMID:37468549   PMID:38334954  


Genomics

Comparative Map Data
ITGA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38552,787,916 - 52,959,209 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl552,787,916 - 52,959,209 (+)EnsemblGRCh38hg38GRCh38
GRCh37552,083,750 - 52,255,039 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36552,119,893 - 52,285,242 (+)NCBINCBI36Build 36hg18NCBI36
Build 34552,119,892 - 52,285,241NCBI
Celera549,037,686 - 49,203,085 (+)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef549,055,982 - 49,221,542 (+)NCBIHuRef
CHM1_1552,086,786 - 52,252,111 (+)NCBICHM1_1
T2T-CHM13v2.0553,615,621 - 53,786,944 (+)NCBIT2T-CHM13v2.0
Itga1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913115,094,615 - 115,238,500 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13115,089,632 - 115,238,500 (-)EnsemblGRCm39 Ensembl
GRCm3813114,958,079 - 115,101,964 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13114,953,096 - 115,101,964 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713115,748,287 - 115,892,172 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613116,080,957 - 116,222,842 (-)NCBIMGSCv36mm8
Celera13119,308,615 - 119,462,806 (-)NCBICelera
Cytogenetic Map13D2.2NCBI
cM Map1364.61NCBI
Itga1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8248,379,181 - 48,545,336 (-)NCBIGRCr8
mRatBN7.2246,646,125 - 46,812,237 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl246,653,193 - 46,812,238 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx253,760,440 - 53,912,547 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0251,818,812 - 51,971,755 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0246,688,983 - 46,841,874 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0247,127,403 - 47,281,387 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl247,127,219 - 47,281,421 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0271,666,601 - 71,823,120 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4247,107,849 - 47,206,261 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1247,036,084 - 47,134,488 (-)NCBI
Celera242,407,780 - 42,559,904 (-)NCBICelera
Cytogenetic Map2q14NCBI
Itga1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544614,446,300 - 14,577,605 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544614,439,571 - 14,582,236 (-)NCBIChiLan1.0ChiLan1.0
ITGA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2460,984,567 - 61,160,262 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1559,135,090 - 59,312,685 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0561,073,507 - 61,247,565 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1562,692,673 - 62,865,771 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl562,692,673 - 62,865,769 (-)Ensemblpanpan1.1panPan2
ITGA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1462,287,823 - 62,455,940 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl462,293,082 - 62,455,650 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha462,062,740 - 62,230,868 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0462,785,836 - 62,953,966 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl462,791,553 - 62,953,332 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1462,561,013 - 62,729,609 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0462,685,631 - 62,847,651 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0463,212,383 - 63,380,850 (-)NCBIUU_Cfam_GSD_1.0
Itga1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213205,502,947 - 205,654,957 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648014,443,685 - 14,591,380 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648014,442,481 - 14,591,574 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1632,129,612 - 32,304,592 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11632,130,265 - 32,309,917 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21633,940,969 - 34,132,541 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ITGA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1449,081,687 - 49,248,321 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl449,082,787 - 49,246,186 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660821,876,808 - 2,052,640 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Itga1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247596,404,758 - 6,543,211 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247596,397,743 - 6,543,652 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ITGA1
107 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1		 pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] Chr5:50288355..56717370 [GRCh38]
Chr5:49584189..56013197 [GRCh37]
Chr5:49619946..56048954 [NCBI36]
Chr5:5q11.1-11.2		 pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 copy number loss See cases [RCV000053451] Chr5:50462100..55862985 [GRCh38]
Chr5:49757934..55158813 [GRCh37]
Chr5:49793691..55194570 [NCBI36]
Chr5:5q11.1-11.2		 pathogenic
NM_181501.1(ITGA1):c.1942C>T (p.Leu648=) single nucleotide variant Malignant melanoma [RCV000066953] Chr5:52915548 [GRCh38]
Chr5:52211378 [GRCh37]
Chr5:52247135 [NCBI36]
Chr5:5q11.2		 not provided
NM_181501.1(ITGA1):c.2201G>A (p.Arg734Gln) single nucleotide variant Malignant melanoma [RCV000066954] Chr5:52920377 [GRCh38]
Chr5:52216207 [GRCh37]
Chr5:52251964 [NCBI36]
Chr5:5q11.2		 not provided
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 copy number gain See cases [RCV000138021] Chr5:45566861..56506493 [GRCh38]
Chr5:45566963..55802320 [GRCh37]
Chr5:45602720..55838077 [NCBI36]
Chr5:5p12-q11.2		 uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5q11.2(chr5:50824656-53452371)x1 copy number loss See cases [RCV000511681] Chr5:50824656..53452371 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_181501.2(ITGA1):c.2897A>G (p.Asn966Ser) single nucleotide variant not provided [RCV004696436]|not specified [RCV004302323] Chr5:52933929 [GRCh38]
Chr5:52229759 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.891T>G (p.Cys297Trp) single nucleotide variant not specified [RCV004307293] Chr5:52887932 [GRCh38]
Chr5:52183764 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2255G>A (p.Arg752Gln) single nucleotide variant not specified [RCV004324100] Chr5:52920431 [GRCh38]
Chr5:52216261 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.912A>C (p.Glu304Asp) single nucleotide variant not specified [RCV004308891] Chr5:52801594 [GRCh38]
Chr5:52097428 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q11.2(chr5:51972277-52091647)x3 copy number gain not provided [RCV000744699] Chr5:51972277..52091647 [GRCh37]
Chr5:5q11.2		 benign
NM_181501.2(ITGA1):c.2211C>T (p.Phe737=) single nucleotide variant not provided [RCV000899839] Chr5:52920387 [GRCh38]
Chr5:52216217 [GRCh37]
Chr5:5q11.2		 benign
NM_181501.2(ITGA1):c.3288A>G (p.Ser1096=) single nucleotide variant not provided [RCV000899954] Chr5:52944945 [GRCh38]
Chr5:52240775 [GRCh37]
Chr5:5q11.2		 benign
NM_181501.2(ITGA1):c.663G>A (p.Glu221=) single nucleotide variant not provided [RCV000958791] Chr5:52881911 [GRCh38]
Chr5:52177743 [GRCh37]
Chr5:5q11.2		 benign
NM_181501.2(ITGA1):c.1455+7T>C single nucleotide variant not provided [RCV000894739] Chr5:52905915 [GRCh38]
Chr5:52201745 [GRCh37]
Chr5:5q11.2		 benign
GRCh37/hg19 5q11.2(chr5:52053923-52680028)x3 copy number gain not provided [RCV000847276] Chr5:52053923..52680028 [GRCh37]
Chr5:5q11.2		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q11.2(chr5:52171297-52253656)x1 copy number loss not provided [RCV001005676] Chr5:52171297..52253656 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.1153G>C (p.Asp385His) single nucleotide variant not specified [RCV004316706] Chr5:52801835 [GRCh38]
Chr5:52097669 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.3183C>T (p.Asp1061=) single nucleotide variant not provided [RCV000910168] Chr5:52939842 [GRCh38]
Chr5:52235672 [GRCh37]
Chr5:5q11.2		 likely benign
NM_181501.2(ITGA1):c.3363C>A (p.Ser1121Arg) single nucleotide variant not provided [RCV000894013] Chr5:52945020 [GRCh38]
Chr5:52240850 [GRCh37]
Chr5:5q11.2		 benign
NM_181501.2(ITGA1):c.249A>G (p.Pro83=) single nucleotide variant not provided [RCV000885787] Chr5:52861513 [GRCh38]
Chr5:52157347 [GRCh37]
Chr5:5q11.2		 benign
NM_181501.2(ITGA1):c.472G>A (p.Val158Met) single nucleotide variant not provided [RCV000912660] Chr5:52865058 [GRCh38]
Chr5:52160892 [GRCh37]
Chr5:5q11.2		 benign
GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1 copy number loss not provided [RCV001258850] Chr5:49430268..53182665 [GRCh37]
Chr5:5q11.1-11.2		 pathogenic
NM_181501.2(ITGA1):c.652G>T (p.Val218Leu) single nucleotide variant not specified [RCV004294082] Chr5:52881900 [GRCh38]
Chr5:52177732 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.557G>C (p.Trp186Ser) single nucleotide variant not specified [RCV004322250] Chr5:52865750 [GRCh38]
Chr5:52161584 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1895T>G (p.Phe632Cys) single nucleotide variant not specified [RCV004281689] Chr5:52915501 [GRCh38]
Chr5:52211331 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.239A>G (p.Tyr80Cys) single nucleotide variant not specified [RCV004165522] Chr5:52861503 [GRCh38]
Chr5:52157337 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2327C>T (p.Thr776Met) single nucleotide variant not specified [RCV004164221] Chr5:52922811 [GRCh38]
Chr5:52218641 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1745A>G (p.Asn582Ser) single nucleotide variant not specified [RCV004147908] Chr5:52910307 [GRCh38]
Chr5:52206137 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.418G>C (p.Val140Leu) single nucleotide variant not specified [RCV004151508] Chr5:52800812 [GRCh38]
Chr5:52096646 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.3066G>C (p.Leu1022Phe) single nucleotide variant not specified [RCV004118671] Chr5:52937502 [GRCh38]
Chr5:52233332 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.997G>C (p.Val333Leu) single nucleotide variant not specified [RCV004140697] Chr5:52801679 [GRCh38]
Chr5:52097513 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2901G>T (p.Glu967Asp) single nucleotide variant not specified [RCV004093113] Chr5:52933933 [GRCh38]
Chr5:52229763 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.3532G>A (p.Glu1178Lys) single nucleotide variant not specified [RCV004114903] Chr5:52952443 [GRCh38]
Chr5:52248273 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.3397A>G (p.Lys1133Glu) single nucleotide variant not specified [RCV004212163] Chr5:52947363 [GRCh38]
Chr5:52243193 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2932G>A (p.Asp978Asn) single nucleotide variant not specified [RCV004237253] Chr5:52933964 [GRCh38]
Chr5:52229794 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.850A>G (p.Met284Val) single nucleotide variant not specified [RCV004162060] Chr5:52801532 [GRCh38]
Chr5:52097366 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.49T>C (p.Trp17Arg) single nucleotide variant not specified [RCV004150494] Chr5:52788402 [GRCh38]
Chr5:52084236 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2828C>T (p.Pro943Leu) single nucleotide variant not specified [RCV004599511] Chr5:52932103 [GRCh38]
Chr5:52227933 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2467G>A (p.Ala823Thr) single nucleotide variant not provided [RCV004695331]|not specified [RCV004071533] Chr5:52925341 [GRCh38]
Chr5:52221171 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.70C>T (p.Arg24Cys) single nucleotide variant not specified [RCV004245518] Chr5:52849373 [GRCh38]
Chr5:52145207 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.828A>T (p.Lys276Asn) single nucleotide variant not specified [RCV004160246] Chr5:52801510 [GRCh38]
Chr5:52097344 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.508A>C (p.Lys170Gln) single nucleotide variant not specified [RCV004155195] Chr5:52800902 [GRCh38]
Chr5:52096736 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1196A>C (p.Tyr399Ser) single nucleotide variant not specified [RCV004094673] Chr5:52898270 [GRCh38]
Chr5:52194100 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.3110A>T (p.Asp1037Val) single nucleotide variant not specified [RCV004143084] Chr5:52939621 [GRCh38]
Chr5:52235451 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2383C>A (p.Pro795Thr) single nucleotide variant not specified [RCV004150657] Chr5:52922867 [GRCh38]
Chr5:52218697 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2516T>A (p.Phe839Tyr) single nucleotide variant not specified [RCV004196287] Chr5:52925390 [GRCh38]
Chr5:52221220 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.577A>G (p.Ile193Val) single nucleotide variant not specified [RCV004187816] Chr5:52800971 [GRCh38]
Chr5:52096805 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2200C>G (p.Arg734Gly) single nucleotide variant not specified [RCV004128432] Chr5:52920376 [GRCh38]
Chr5:52216206 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2579A>G (p.His860Arg) single nucleotide variant not specified [RCV004146273] Chr5:52925453 [GRCh38]
Chr5:52221283 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.658C>T (p.His220Tyr) single nucleotide variant not specified [RCV004180848] Chr5:52881906 [GRCh38]
Chr5:52177738 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.1081G>A (p.Gly361Arg) single nucleotide variant not specified [RCV004154658] Chr5:52801763 [GRCh38]
Chr5:52097597 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1259C>T (p.Thr420Ile) single nucleotide variant not specified [RCV004228737] Chr5:52898333 [GRCh38]
Chr5:52194163 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.182T>C (p.Val61Ala) single nucleotide variant not specified [RCV004310042] Chr5:52800576 [GRCh38]
Chr5:52096410 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1541T>A (p.Met514Lys) single nucleotide variant not specified [RCV004260681] Chr5:52908983 [GRCh38]
Chr5:52204813 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.986A>G (p.Tyr329Cys) single nucleotide variant not specified [RCV004255466] Chr5:52801668 [GRCh38]
Chr5:52097502 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1658G>A (p.Arg553Gln) single nucleotide variant not specified [RCV004252865] Chr5:52910220 [GRCh38]
Chr5:52206050 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.575C>A (p.Ala192Asp) single nucleotide variant not specified [RCV004272636] Chr5:52800969 [GRCh38]
Chr5:52096803 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2887A>G (p.Ile963Val) single nucleotide variant not specified [RCV004248416] Chr5:52933919 [GRCh38]
Chr5:52229749 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.38C>T (p.Ala13Val) single nucleotide variant not specified [RCV004257830] Chr5:52800432 [GRCh38]
Chr5:52096266 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.625G>A (p.Val209Ile) single nucleotide variant not specified [RCV004280076] Chr5:52881873 [GRCh38]
Chr5:52177705 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.794G>T (p.Arg265Leu) single nucleotide variant not specified [RCV004265337] Chr5:52801476 [GRCh38]
Chr5:52097310 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.443G>C (p.Cys148Ser) single nucleotide variant not specified [RCV004330842] Chr5:52865029 [GRCh38]
Chr5:52160863 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2863T>C (p.Ser955Pro) single nucleotide variant not specified [RCV004346396] Chr5:52933895 [GRCh38]
Chr5:52229725 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.3186C>G (p.Cys1062Trp) single nucleotide variant not specified [RCV004343472] Chr5:52939845 [GRCh38]
Chr5:52235675 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.16C>A (p.Arg6Ser) single nucleotide variant not specified [RCV004345292] Chr5:52788369 [GRCh38]
Chr5:52084203 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.3508A>C (p.Lys1170Gln) single nucleotide variant not specified [RCV004363971] Chr5:52952419 [GRCh38]
Chr5:52248249 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2785C>A (p.Pro929Thr) single nucleotide variant not specified [RCV004352057] Chr5:52932060 [GRCh38]
Chr5:52227890 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2784A>G (p.Glu928=) single nucleotide variant not provided [RCV003429634] Chr5:52932059 [GRCh38]
Chr5:52227889 [GRCh37]
Chr5:5q11.2		 likely benign
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 copy number loss not specified [RCV003986571] Chr5:49430268..57925870 [GRCh37]
Chr5:5q11.1-11.2		 likely pathogenic
GRCh37/hg19 5q11.1-11.2(chr5:50270297-52235860)x1 copy number loss not specified [RCV003986572] Chr5:50270297..52235860 [GRCh37]
Chr5:5q11.1-11.2		 uncertain significance
NM_181501.2(ITGA1):c.1176G>A (p.Met392Ile) single nucleotide variant not specified [RCV004405497] Chr5:52898250 [GRCh38]
Chr5:52194080 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1378A>G (p.Asn460Asp) single nucleotide variant not specified [RCV004405498] Chr5:52905831 [GRCh38]
Chr5:52201661 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1709G>A (p.Arg570His) single nucleotide variant not specified [RCV004405499] Chr5:52910271 [GRCh38]
Chr5:52206101 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1841G>C (p.Arg614Thr) single nucleotide variant not specified [RCV004405500] Chr5:52910403 [GRCh38]
Chr5:52206233 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1966C>T (p.Leu656Phe) single nucleotide variant not specified [RCV004405501] Chr5:52915572 [GRCh38]
Chr5:52211402 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2252T>G (p.Val751Gly) single nucleotide variant not specified [RCV004405502] Chr5:52920428 [GRCh38]
Chr5:52216258 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.242A>G (p.Lys81Arg) single nucleotide variant not specified [RCV004405503] Chr5:52861506 [GRCh38]
Chr5:52157340 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.242A>C (p.Lys81Thr) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557741] Chr5:52861506 [GRCh38]
Chr5:52157340 [GRCh37]
Chr5:5q11.2		 likely benign
NM_015946.5(PELO):c.1027G>C (p.Val343Leu) single nucleotide variant not specified [RCV004505769] Chr5:52801709 [GRCh38]
Chr5:52097543 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2116G>C (p.Val706Leu) single nucleotide variant not specified [RCV004633307] Chr5:52918859 [GRCh38]
Chr5:52214689 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.458C>G (p.Pro153Arg) single nucleotide variant not specified [RCV004633314] Chr5:52865044 [GRCh38]
Chr5:52160878 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.445T>G (p.Ser149Ala) single nucleotide variant not specified [RCV004633316] Chr5:52865031 [GRCh38]
Chr5:52160865 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.176A>G (p.Asn59Ser) single nucleotide variant not specified [RCV004505771] Chr5:52800570 [GRCh38]
Chr5:52096404 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.521A>C (p.Asn174Thr) single nucleotide variant not specified [RCV004505772] Chr5:52800915 [GRCh38]
Chr5:52096749 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.843C>G (p.Phe281Leu) single nucleotide variant not specified [RCV004505774] Chr5:52801525 [GRCh38]
Chr5:52097359 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2941A>C (p.Asn981His) single nucleotide variant not specified [RCV004405504] Chr5:52933973 [GRCh38]
Chr5:52229803 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.3085A>G (p.Asn1029Asp) single nucleotide variant not specified [RCV004405505] Chr5:52939596 [GRCh38]
Chr5:52235426 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2426G>A (p.Gly809Glu) single nucleotide variant not specified [RCV004633309] Chr5:52925300 [GRCh38]
Chr5:52221130 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1964G>A (p.Gly655Asp) single nucleotide variant not specified [RCV004633315] Chr5:52915570 [GRCh38]
Chr5:52211400 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.260G>C (p.Gly87Ala) single nucleotide variant not specified [RCV004633317] Chr5:52861524 [GRCh38]
Chr5:52157358 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.146A>G (p.Tyr49Cys) single nucleotide variant not specified [RCV004633308] Chr5:52849449 [GRCh38]
Chr5:52145283 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1982T>A (p.Leu661His) single nucleotide variant not specified [RCV004633310] Chr5:52915588 [GRCh38]
Chr5:52211418 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.762A>G (p.Ile254Met) single nucleotide variant not specified [RCV004633311] Chr5:52882010 [GRCh38]
Chr5:52177842 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1643C>T (p.Thr548Met) single nucleotide variant not specified [RCV004633312] Chr5:52910205 [GRCh38]
Chr5:52206035 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.1132G>A (p.Gly378Ser) single nucleotide variant not specified [RCV004655694] Chr5:52801814 [GRCh38]
Chr5:52097648 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.1094T>G (p.Ile365Ser) single nucleotide variant not specified [RCV004659827] Chr5:52801776 [GRCh38]
Chr5:52097610 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.278A>T (p.Tyr93Phe) single nucleotide variant not specified [RCV004659826] Chr5:52800672 [GRCh38]
Chr5:52096506 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.282G>T (p.Lys94Asn) single nucleotide variant not specified [RCV004633313] Chr5:52861546 [GRCh38]
Chr5:52157380 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.2552G>C (p.Ser851Thr) single nucleotide variant not specified [RCV004633318] Chr5:52925426 [GRCh38]
Chr5:52221256 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.1120T>C (p.Ser374Pro) single nucleotide variant not specified [RCV004655692] Chr5:52801802 [GRCh38]
Chr5:52097636 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_015946.5(PELO):c.479G>C (p.Arg160Pro) single nucleotide variant not specified [RCV004655693] Chr5:52800873 [GRCh38]
Chr5:52096707 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_181501.2(ITGA1):c.1521T>G (p.Ile507Met) single nucleotide variant not specified [RCV004633306] Chr5:52908963 [GRCh38]
Chr5:52204793 [GRCh37]
Chr5:5q11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2569
Count of miRNA genes:1079
Interacting mature miRNAs:1316
Transcripts:ENST00000282588, ENST00000504086, ENST00000504669, ENST00000506275, ENST00000509049, ENST00000513737, ENST00000514262
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406890310GWAS539286_Hreticulocyte measurement QTL GWAS539286 (human)6e-119reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55280105552801056Human
407107915GWAS756891_HFEV/FVC ratio QTL GWAS756891 (human)1e-41FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)55289120752891208Human
406983240GWAS632216_Hhemoglobin measurement QTL GWAS632216 (human)1e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)55292591852925919Human
407007305GWAS656281_Htotal cholesterol measurement QTL GWAS656281 (human)2e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)55289740652897407Human
407144008GWAS792984_Hsusceptibility to pneumonia measurement QTL GWAS792984 (human)0.000008susceptibility to pneumonia measurement55279709752797098Human
407410245GWAS1059221_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1059221 (human)6e-12free cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279243752792438Human
407356490GWAS1005466_Hserum gamma-glutamyl transferase measurement QTL GWAS1005466 (human)7e-76serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407419462GWAS1068438_Hsystolic blood pressure QTL GWAS1068438 (human)0.000004systolic blood pressuresystolic blood pressure (CMO:0000004)55283970952839710Human
407041619GWAS690595_Htotal lipids in medium LDL QTL GWAS690595 (human)1e-09blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407269460GWAS918436_Hheel bone mineral density QTL GWAS918436 (human)4e-17heel bone mineral densitybone mineral density (CMO:0001226)55289729452897295Human
407010641GWAS659617_Hlow density lipoprotein cholesterol measurement QTL GWAS659617 (human)5e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55289740652897407Human
407194961GWAS843937_Hlow density lipoprotein cholesterol measurement QTL GWAS843937 (human)2e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407109207GWAS758183_Herythrocyte count QTL GWAS758183 (human)2e-10erythrocyte countred blood cell count (CMO:0000025)55289761252897613Human
407198800GWAS847776_Hserum gamma-glutamyl transferase measurement QTL GWAS847776 (human)3e-16serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289740652897407Human
407193683GWAS842659_Hlymphocyte measurement QTL GWAS842659 (human)2e-09lymphocyte measurement55280947352809474Human
407348061GWAS997037_Hserum gamma-glutamyl transferase measurement QTL GWAS997037 (human)2e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
406890075GWAS539051_Hreticulocyte count QTL GWAS539051 (human)2e-116reticulocyte counttotal reticulocyte count (CMO:0003020)55280105552801056Human
407390036GWAS1039012_Hserum gamma-glutamyl transferase measurement QTL GWAS1039012 (human)2e-95serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407342949GWAS991925_Herythrocyte count QTL GWAS991925 (human)1e-09erythrocyte countred blood cell count (CMO:0000025)55290609752906098Human
406998881GWAS647857_Hreticulocyte measurement QTL GWAS647857 (human)2e-11reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55282091452820915Human
407411041GWAS1060017_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1060017 (human)1e-14free cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279243752792438Human
406947944GWAS596920_Hspontaneous coronary artery dissection QTL GWAS596920 (human)1e-08coronary artery integrity trait (VT:0010746)55285980852859809Human
407165289GWAS814265_Halkaline phosphatase measurement QTL GWAS814265 (human)3e-21alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)55281044452810445Human
407139433GWAS788409_Hserum gamma-glutamyl transferase measurement QTL GWAS788409 (human)3e-10serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
406897006GWAS545982_Hreticulocyte count QTL GWAS545982 (human)1e-33reticulocyte counttotal reticulocyte count (CMO:0003020)55280105552801056Human
407069805GWAS718781_Htotal blood protein measurement QTL GWAS718781 (human)8e-10total blood protein measurementblood protein measurement (CMO:0000028)55282441252824413Human
407075187GWAS724163_Htotal blood protein measurement QTL GWAS724163 (human)1e-15total blood protein measurementblood protein measurement (CMO:0000028)55280947352809474Human
407050099GWAS699075_Halanine measurement QTL GWAS699075 (human)0.000006alanine measurementblood amino acid measurement (CMO:0003730)55283743252837433Human
407054193GWAS703169_Hpeak expiratory flow QTL GWAS703169 (human)4e-14peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)55289120752891208Human
407160695GWAS809671_HFEV/FVC ratio QTL GWAS809671 (human)7e-47FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)55289120752891208Human
407038838GWAS687814_Hfree cholesterol in large LDL measurement QTL GWAS687814 (human)5e-10total lipids in large LDL55279919052799191Human
407055478GWAS704454_Hchronic obstructive pulmonary disease QTL GWAS704454 (human)6e-10chronic obstructive pulmonary disease55289920352899204Human
407145084GWAS794060_Hblood protein measurement QTL GWAS794060 (human)3e-09blood protein measurementblood protein measurement (CMO:0000028)55279201852792019Human
407398256GWAS1047232_Htotal cholesterol measurement QTL GWAS1047232 (human)1e-19total cholesterol measurementblood total cholesterol level (CMO:0000051)55279919052799191Human
407216507GWAS865483_Hlow density lipoprotein cholesterol measurement QTL GWAS865483 (human)6e-09total cholesterol measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)55281044452810445Human
407148922GWAS797898_Hserum alanine aminotransferase measurement QTL GWAS797898 (human)3e-13serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)55289729452897295Human
407332356GWAS981332_HC-reactive protein measurement QTL GWAS981332 (human)2e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)55288843652888437Human
407192321GWAS841297_Hlow density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS841297 (human)6e-12low density lipoprotein cholesterol measurement, phospholipid measurementblood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407038727GWAS687703_Hphospholipids in large LDL measurement QTL GWAS687703 (human)5e-11low density lipoprotein cholesterol measurementblood lipid measurement (CMO:0000050)55281044452810445Human
407257347GWAS906323_Hlow density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS906323 (human)2e-12low density lipoprotein cholesterol measurement, phospholipid measurementblood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407391245GWAS1040221_Hcoronary artery disease QTL GWAS1040221 (human)1e-09coronary artery disease55289729452897295Human
407414542GWAS1063518_Hlow density lipoprotein cholesterol measurement QTL GWAS1063518 (human)4e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407399951GWAS1048927_Hcoronary artery disease QTL GWAS1048927 (human)2e-08coronary artery disease55289729452897295Human
407203341GWAS852317_HFEV/FVC ratio QTL GWAS852317 (human)8e-59FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)55289120752891208Human
407069198GWAS718174_Hlow density lipoprotein cholesterol measurement QTL GWAS718174 (human)3e-19low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407160340GWAS809316_Htype 2 diabetes mellitus QTL GWAS809316 (human)8e-11type 2 diabetes mellitus55280465552804656Human
406977809GWAS626785_HFEV/FVC ratio, pulmonary function measurement, smoking behaviour measurement QTL GWAS626785 (human)0.0000002FEV/FVC ratio, pulmonary function measurement, smoking behaviour measurementforced expiratory volume to forced vital capacity ratio (CMO:0000241)55288395852883959Human
407393816GWAS1042792_Hserum alanine aminotransferase measurement QTL GWAS1042792 (human)2e-12serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)55289729452897295Human
407037970GWAS686946_Hvisual acuity measurement QTL GWAS686946 (human)0.0000007visual acuity measurement55293719752937198Human
406895123GWAS544099_Hreticulocyte measurement QTL GWAS544099 (human)4e-91reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55280105552801056Human
407376657GWAS1025633_Hserum alanine aminotransferase measurement QTL GWAS1025633 (human)2e-14serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)55289729452897295Human
407035672GWAS684648_Hred blood cell density measurement QTL GWAS684648 (human)7e-14red blood cell density measurement55290609752906098Human
407190046GWAS839022_HFEV/FVC ratio QTL GWAS839022 (human)4e-12FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)55291901852919019Human
407221273GWAS870249_Hreticulocyte measurement QTL GWAS870249 (human)2e-87reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55280010952800110Human
407221272GWAS870248_Hreticulocyte measurement QTL GWAS870248 (human)2e-191reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55279243752792438Human
407033635GWAS682611_Hphospholipids in LDL measurement QTL GWAS682611 (human)2e-11phospholipids in LDL measurement 55281044452810445Human
407340326GWAS989302_Hhemoglobin measurement QTL GWAS989302 (human)1e-08hemoglobin measurementhemoglobin measurement (CMO:0000508)55291429252914293Human
407088166GWAS737142_Hreticulocyte count QTL GWAS737142 (human)9e-86reticulocyte counttotal reticulocyte count (CMO:0003020)55280010952800110Human
407271971GWAS920947_Hbody height QTL GWAS920947 (human)4e-29body height (VT:0001253)body height (CMO:0000106)55280105552801056Human
407088165GWAS737141_Hreticulocyte count QTL GWAS737141 (human)1e-187reticulocyte counttotal reticulocyte count (CMO:0003020)55279919052799191Human
407314977GWAS963953_Hserum gamma-glutamyl transferase measurement QTL GWAS963953 (human)7e-10serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55287089852870899Human
407010852GWAS659828_HFEV/FVC ratio, pulmonary function measurement QTL GWAS659828 (human)0.000002FEV/FVC ratio, pulmonary function measurementforced expiratory volume to forced vital capacity ratio (CMO:0000241)55289920352899204Human
407237154GWAS886130_Hphospholipid measurement, intermediate density lipoprotein measurement QTL GWAS886130 (human)3e-08free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)55281044452810445Human
407391012GWAS1039988_Hserum alanine aminotransferase measurement QTL GWAS1039988 (human)3e-15serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)55289729452897295Human
407040047GWAS689023_Hphospholipids in medium LDL measurement QTL GWAS689023 (human)3e-11low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)55281044452810445Human
407173437GWAS822413_Htype 2 diabetes mellitus QTL GWAS822413 (human)2e-10type 2 diabetes mellitus55279201852792019Human
407065914GWAS714890_Hapolipoprotein B measurement QTL GWAS714890 (human)2e-33low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407330622GWAS979598_Hprotein-glutamine gamma-glutamyltransferase e measurement QTL GWAS979598 (human)8e-11protein-glutamine gamma-glutamyltransferase e measurement55289740652897407Human
406897978GWAS546954_Hreticulocyte count QTL GWAS546954 (human)5e-33reticulocyte counttotal reticulocyte count (CMO:0003020)55280105552801056Human
407296826GWAS945802_Hpulse pressure measurement QTL GWAS945802 (human)2e-11pulse pressure measurementpulse pressure (CMO:0000292)55283970952839710Human
407163962GWAS812938_Herythrocyte measurement QTL GWAS812938 (human)9e-13erythrocyte measurementred blood cell measurement (CMO:0001356)55278860752788608Human
407392200GWAS1041176_Hreticulocyte count QTL GWAS1041176 (human)5e-09reticulocyte counttotal reticulocyte count (CMO:0003020)55280142552801426Human
407366087GWAS1015063_Hserum gamma-glutamyl transferase measurement QTL GWAS1015063 (human)2e-92serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407178948GWAS827924_Htype 2 diabetes mellitus QTL GWAS827924 (human)2e-08type 2 diabetes mellitus55279841052798412Human
407194305GWAS843281_Hlymphocyte count QTL GWAS843281 (human)8e-11lymphocyte countblood lymphocyte count (CMO:0000031)55281769352817694Human
407112128GWAS761104_Herythrocyte count QTL GWAS761104 (human)2e-11erythrocyte countred blood cell count (CMO:0000025)55289761252897613Human
407285699GWAS934675_Hserum albumin measurement QTL GWAS934675 (human)1e-08serum albumin measurementserum albumin level (CMO:0000550)55280480552804806Human
406939588GWAS588564_Hhematocrit QTL GWAS588564 (human)4e-13hematocrithematocrit (CMO:0000037)55290043152900432Human
407414723GWAS1063699_Htotal cholesterol measurement QTL GWAS1063699 (human)1e-11total cholesterol measurementblood total cholesterol level (CMO:0000051)55279919052799191Human
407238350GWAS887326_Hlipid measurement, intermediate density lipoprotein measurement QTL GWAS887326 (human)7e-09free cholesterol measurement, intermediate density lipoprotein measurementblood cholesterol level (CMO:0002280)55281044452810445Human
407418563GWAS1067539_Hpulse pressure measurement QTL GWAS1067539 (human)9e-13pulse pressure measurementpulse pressure (CMO:0000292)55283970952839710Human
407086289GWAS735265_Hattention deficit hyperactivity disorder QTL GWAS735265 (human)0.000003attention deficit hyperactivity disorder55289849752898498Human
407331281GWAS980257_Hserum gamma-glutamyl transferase measurement QTL GWAS980257 (human)5e-22serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
406897367GWAS546343_Hreticulocyte count QTL GWAS546343 (human)2e-34reticulocyte counttotal reticulocyte count (CMO:0003020)55280105552801056Human
407326942GWAS975918_Hlow density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS975918 (human)7e-13low density lipoprotein cholesterol measurement, phospholipid measurementblood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407153370GWAS802346_Hserum gamma-glutamyl transferase measurement QTL GWAS802346 (human)1e-34serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289740652897407Human
407035869GWAS684845_Hfree cholesterol in small LDL measurement QTL GWAS684845 (human)2e-13free cholesterol in small LDL measurement 55279919052799191Human
407401448GWAS1050424_Htype 2 diabetes mellitus QTL GWAS1050424 (human)1e-16type 2 diabetes mellitus55279243752792438Human
407381736GWAS1030712_Hreticulocyte count QTL GWAS1030712 (human)3e-122reticulocyte counttotal reticulocyte count (CMO:0003020)55280010952800110Human
407257318GWAS906294_Htotal cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS906294 (human)6e-11total cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407309541GWAS958517_Hlow density lipoprotein cholesterol measurement QTL GWAS958517 (human)1e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407056609GWAS705585_Hplatelet count QTL GWAS705585 (human)9e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)55295636152956362Human
407061735GWAS710711_Hretinal vasculature measurement QTL GWAS710711 (human)6e-09retina blood vessel morphology trait (VT:0002792)55284315652843157Human
407035111GWAS684087_Hfree cholesterol in medium LDL measurement QTL GWAS684087 (human)3e-12free cholesterol in medium LDL measurement 55279919052799191Human
407326433GWAS975409_Hcholesteryl ester measurement, low density lipoprotein cholesterol measurement QTL GWAS975409 (human)1e-08blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407311585GWAS960561_Hprotein measurement QTL GWAS960561 (human)9e-09protein measurement55287115852871159Human
407074020GWAS722996_Hlow density lipoprotein cholesterol measurement QTL GWAS722996 (human)1e-20low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407039210GWAS688186_Hcholesterol in large LDL measurement QTL GWAS688186 (human)7e-10cholesterol in large LDL measurement 55279919052799191Human
407191021GWAS839997_Hlymphocyte percentage of leukocytes QTL GWAS839997 (human)2e-11lymphocyte percentage of leukocytesblood lymphocyte count to total leukocyte count ratio (CMO:0000371)55281769352817694Human
407029739GWAS678715_Hlow density lipoprotein cholesterol measurement QTL GWAS678715 (human)6e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407309037GWAS958013_Hapolipoprotein B measurement QTL GWAS958013 (human)8e-09apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)55281044452810445Human
406899693GWAS548669_Hreticulocyte count QTL GWAS548669 (human)1e-31reticulocyte counttotal reticulocyte count (CMO:0003020)55280105552801056Human
407155690GWAS804666_Htype 2 diabetes mellitus QTL GWAS804666 (human)2e-08type 2 diabetes mellitus55289740652897407Human
407381735GWAS1030711_Hreticulocyte count QTL GWAS1030711 (human)1e-265reticulocyte counttotal reticulocyte count (CMO:0003020)55279919052799191Human
407190261GWAS839237_Hcholesteryl ester measurement, low density lipoprotein cholesterol measurement QTL GWAS839237 (human)2e-10blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407016433GWAS665409_Hserum gamma-glutamyl transferase measurement QTL GWAS665409 (human)2e-16serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
406954485GWAS603461_Hprotein measurement QTL GWAS603461 (human)4e-19protein measurement55295636152956362Human
407257840GWAS906816_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS906816 (human)9e-09blood lipid amount (VT:0003949)blood intermediate density lipoprotein cholesterol level (CMO:0001562)55281044452810445Human
407253758GWAS902734_Htotal cholesterol measurement QTL GWAS902734 (human)4e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)55281044452810445Human
407281407GWAS930383_Halkaline phosphatase measurement QTL GWAS930383 (human)3e-14alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)55281044452810445Human
407032313GWAS681289_Hlow density lipoprotein cholesterol measurement QTL GWAS681289 (human)9e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407215353GWAS864329_Hlow density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS864329 (human)1e-12low density lipoprotein cholesterol measurement, phospholipid measurementblood low density lipoprotein cholesterol level (CMO:0000053)55281044452810445Human
407036927GWAS685903_Hphospholipids in small LDL measurement QTL GWAS685903 (human)2e-11phospholipids in small LDL measurement 55279919052799191Human
407315706GWAS964682_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS964682 (human)1e-10low density lipoprotein cholesterol measurement, lipid measurementblood total cholesterol level (CMO:0000051)55281044452810445Human
407359622GWAS1008598_HFEV/FVC ratio QTL GWAS1008598 (human)7e-14FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)55289729452897295Human
407033226GWAS682202_Hfree cholesterol in LDL measurement QTL GWAS682202 (human)4e-11free cholesterol in LDL measurement 55279919052799191Human
407411840GWAS1060816_Hlow density lipoprotein cholesterol measurement QTL GWAS1060816 (human)2e-43low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407399553GWAS1048529_HC-reactive protein measurement QTL GWAS1048529 (human)2e-23C-reactive protein measurementblood C-reactive protein level (CMO:0003160)55279919052799191Human
407039118GWAS688094_Htotal lipids in LDL measurement QTL GWAS688094 (human)4e-10total lipids in LDL measurement 55281044452810445Human
406890894GWAS539870_Hreticulocyte measurement QTL GWAS539870 (human)2e-78reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55280105552801056Human
406899856GWAS548832_Hreticulocyte count QTL GWAS548832 (human)6e-20reticulocyte counttotal reticulocyte count (CMO:0003020)55280105552801056Human
407154839GWAS803815_Halkaline phosphatase measurement QTL GWAS803815 (human)6e-11alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)55289729452897295Human
407382687GWAS1031663_Hreticulocyte measurement QTL GWAS1031663 (human)2e-266reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55279919052799191Human
407411103GWAS1060079_Htotal cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1060079 (human)8e-11total cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407156636GWAS805612_Hpulse pressure measurement QTL GWAS805612 (human)4e-09pulse pressure measurementpulse pressure (CMO:0000292)55286094752860948Human
407083679GWAS732655_Hheel bone mineral density QTL GWAS732655 (human)2e-15heel bone mineral densitybone mineral density (CMO:0001226)55289729452897295Human
407395733GWAS1044709_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1044709 (human)9e-18non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)55279243752792438Human
407161241GWAS810217_Hcoronary artery disease QTL GWAS810217 (human)0.0000006coronary artery disease55288986352889864Human
407169433GWAS818409_HFEV/FVC ratio QTL GWAS818409 (human)2e-18FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)55289920352899204Human
407325081GWAS974057_Hhematocrit QTL GWAS974057 (human)6e-09hematocrithematocrit (CMO:0000037)55291901852919019Human
407161243GWAS810219_Hmyocardial infarction QTL GWAS810219 (human)2e-08myocardial infarction55288986352889864Human
406894498GWAS543474_Hreticulocyte count QTL GWAS543474 (human)1e-86reticulocyte counttotal reticulocyte count (CMO:0003020)55280105552801056Human
406943138GWAS592114_Hforced expiratory volume QTL GWAS592114 (human)7e-09forced expiratory volumeforced expiratory volume (CMO:0000254)55289120752891208Human
407411116GWAS1060092_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS1060092 (human)9e-09very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)55279919052799191Human
407399342GWAS1048318_Htotal cholesterol measurement QTL GWAS1048318 (human)2e-16total cholesterol measurementblood total cholesterol level (CMO:0000051)55279919052799191Human
407382688GWAS1031664_Hreticulocyte measurement QTL GWAS1031664 (human)1e-122reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55280010952800110Human
407058867GWAS707843_HC-reactive protein measurement QTL GWAS707843 (human)1e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)55288843652888437Human
407362741GWAS1011717_Hserum gamma-glutamyl transferase measurement QTL GWAS1011717 (human)2e-11serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)55289729452897295Human
407410877GWAS1059853_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS1059853 (human)4e-08very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)55279243752792438Human
406938804GWAS587780_Hheel bone mineral density QTL GWAS587780 (human)6e-17heel bone mineral densitybone mineral density (CMO:0001226)55289729452897295Human
407160764GWAS809740_Herythrocyte measurement QTL GWAS809740 (human)2e-16erythrocyte measurementred blood cell measurement (CMO:0001356)55281044452810445Human
407054778GWAS703754_Hreticulocyte measurement QTL GWAS703754 (human)3e-91reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55280010952800110Human
407054777GWAS703753_Hreticulocyte measurement QTL GWAS703753 (human)2e-193reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55279919052799191Human
406978744GWAS627720_Hhemoglobin measurement QTL GWAS627720 (human)1e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)55290043152900432Human
407302586GWAS951562_Hhearing loss QTL GWAS951562 (human)0.0000005hearing loss55279209852792099Human
407066047GWAS715023_Hred blood cell density measurement QTL GWAS715023 (human)7e-11red blood cell density measurement55289761252897613Human

Markers in Region
SHGC-53304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,249,544 - 52,249,658UniSTSGRCh37
Build 36552,285,301 - 52,285,415RGDNCBI36
Celera549,203,144 - 49,203,258RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,221,601 - 49,221,715UniSTS
TNG Radiation Hybrid Map523788.0UniSTS
L28297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,087,632 - 52,087,849UniSTSGRCh37
Build 36552,123,389 - 52,123,606RGDNCBI36
Celera549,041,184 - 49,041,401RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,059,480 - 49,059,697UniSTS
RH120591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,193,068 - 52,193,376UniSTSGRCh37
Build 36552,228,825 - 52,229,133RGDNCBI36
Celera549,146,669 - 49,146,977RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,164,960 - 49,165,268UniSTS
TNG Radiation Hybrid Map523832.0UniSTS
RH123048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,090,040 - 52,090,253UniSTSGRCh37
Build 36552,125,797 - 52,126,010RGDNCBI36
Celera549,043,592 - 49,043,805RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,061,888 - 49,062,101UniSTS
TNG Radiation Hybrid Map523873.0UniSTS
RH121270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,087,686 - 52,088,035UniSTSGRCh37
Build 36552,123,443 - 52,123,792RGDNCBI36
Celera549,041,238 - 49,041,587RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,059,534 - 49,059,883UniSTS
D5S1686E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,100,223 - 52,100,362UniSTSGRCh37
Build 36552,135,980 - 52,136,119RGDNCBI36
Celera549,053,776 - 49,053,915RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,072,070 - 49,072,209UniSTS
Pelo  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,096,647 - 52,096,887UniSTSGRCh37
GRCh37552,096,931 - 52,097,266UniSTSGRCh37
Build 36552,132,688 - 52,133,023RGDNCBI36
Celera549,050,200 - 49,050,440UniSTS
Celera549,050,484 - 49,050,819RGD
HuRef549,068,498 - 49,068,738UniSTS
HuRef549,068,782 - 49,069,117UniSTS
PMC310876P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,096,228 - 52,096,678UniSTSGRCh37
Build 36552,131,985 - 52,132,435RGDNCBI36
Celera549,049,781 - 49,050,231RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,068,079 - 49,068,529UniSTS
ITGA1_2521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,248,912 - 52,249,616UniSTSGRCh37
Build 36552,284,669 - 52,285,373RGDNCBI36
Celera549,202,512 - 49,203,216RGD
SHGC-32850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,097,430 - 52,097,531UniSTSGRCh37
Build 36552,133,187 - 52,133,288RGDNCBI36
Celera549,050,983 - 49,051,084RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,069,281 - 49,069,382UniSTS
Stanford-G3 RH Map51924.0UniSTS
NCBI RH Map5182.0UniSTS
GeneMap99-G3 RH Map51919.0UniSTS
WI-17921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,169,842 - 52,169,969UniSTSGRCh37
Build 36552,205,599 - 52,205,726RGDNCBI36
Celera549,123,436 - 49,123,563RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,141,723 - 49,141,850UniSTS
GeneMap99-GB4 RH Map5281.69UniSTS
Whitehead-RH Map5179.2UniSTS
L28346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,193,196 - 52,193,486UniSTSGRCh37
Build 36552,228,953 - 52,229,243RGDNCBI36
Celera549,146,797 - 49,147,088RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,165,088 - 49,165,379UniSTS
Pelo  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,096,647 - 52,096,887UniSTSGRCh37
GRCh37552,096,931 - 52,097,266UniSTSGRCh37
Build 36552,132,688 - 52,133,023RGDNCBI36
Celera549,050,200 - 49,050,440UniSTS
Celera549,050,484 - 49,050,819RGD
HuRef549,068,498 - 49,068,738UniSTS
HuRef549,068,782 - 49,069,117UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2236 4973 1726 2342 6 624 1793 465 2269 7162 6331 51 3734 1 851 1743 1608 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_181501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000282588   ⟹   ENSP00000282588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl552,787,916 - 52,959,209 (+)Ensembl
Ensembl Acc Id: ENST00000504086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl552,787,947 - 52,825,210 (+)Ensembl
Ensembl Acc Id: ENST00000504669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl552,901,779 - 52,952,512 (+)Ensembl
Ensembl Acc Id: ENST00000506275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl552,931,152 - 52,956,491 (+)Ensembl
Ensembl Acc Id: ENST00000509049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl552,864,971 - 52,882,927 (+)Ensembl
Ensembl Acc Id: ENST00000513737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl552,863,973 - 52,887,891 (+)Ensembl
Ensembl Acc Id: ENST00000514262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl552,863,973 - 52,867,218 (+)Ensembl
Ensembl Acc Id: ENST00000650673   ⟹   ENSP00000498529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl552,787,936 - 52,956,483 (+)Ensembl
RefSeq Acc Id: NM_181501   ⟹   NP_852478
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38552,787,916 - 52,959,209 (+)NCBI
GRCh37552,084,136 - 52,249,485 (+)ENTREZGENE
Build 36552,119,893 - 52,285,242 (+)NCBI Archive
HuRef549,055,982 - 49,221,542 (+)ENTREZGENE
CHM1_1552,086,786 - 52,252,111 (+)NCBI
T2T-CHM13v2.0553,615,621 - 53,786,944 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_852478 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI37122 (Get FASTA)   NCBI Sequence Viewer  
  AAI37123 (Get FASTA)   NCBI Sequence Viewer  
  BAG62150 (Get FASTA)   NCBI Sequence Viewer  
  CCF77001 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000282588
  ENSP00000282588.5
  ENSP00000498529.1
GenBank Protein P56199 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_852478   ⟸   NM_181501
- Peptide Label: precursor
- UniProtKB: B2RNU0 (UniProtKB/Swiss-Prot),   P56199 (UniProtKB/Swiss-Prot),   B4DTY8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000282588   ⟸   ENST00000282588
Ensembl Acc Id: ENSP00000498529   ⟸   ENST00000650673
Protein Domains
VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P56199-F1-model_v2 AlphaFold P56199 1-1179 view protein structure

Promoters
RGD ID:6803282
Promoter ID:HG_KWN:50099
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000214040,   OTTHUMT00000253855,   UC003JOT.1,   UC003JOV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36552,119,396 - 52,119,907 (+)MPROMDB
RGD ID:6869570
Promoter ID:EPDNEW_H7950
Type:initiation region
Name:ITGA1_1
Description:integrin subunit alpha 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
GRCh38552,787,936 - 52,787,996EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6134 AgrOrtholog
COSMIC ITGA1 COSMIC
Ensembl Genes ENSG00000213949 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000282588 ENTREZGENE
  ENST00000282588.7 UniProtKB/Swiss-Prot
  ENST00000650673.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot
  Bicelle-embedded integrin alpha(iib) transmembrane segment UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin domains. Chain A, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ntegrin, alpha v. Chain A, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ntegrin, alpha v. Chain A, domain 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  von Willebrand factor, type A domain UniProtKB/TrEMBL
GTEx ENSG00000213949 GTEx
HGNC ID HGNC:6134 ENTREZGENE
Human Proteome Map ITGA1 Human Proteome Map
InterPro FG-GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Int_alpha_beta-p UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_C_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_Ig-like_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_Ig-like_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3672 UniProtKB/Swiss-Prot
NCBI Gene 3672 ENTREZGENE
OMIM 192968 OMIM
PANTHER INTEGRIN ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTEGRIN ALPHA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FG-GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_A_Ig_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_A_Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29935 PharmGKB
PRINTS INTEGRINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFADOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FG_GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTEGRIN_ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Int_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Integrin domains UniProtKB/TrEMBL
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69179 UniProtKB/Swiss-Prot
  SSF69318 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0F7_HUMAN UniProtKB/TrEMBL
  B2RNU0 ENTREZGENE
  B4DTY8 ENTREZGENE, UniProtKB/TrEMBL
  ITA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RNU0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ITGA1  integrin subunit alpha 1  ITGA1  integrin alpha 1  Symbol and/or name change 5135510 APPROVED
2015-12-08 ITGA1  integrin alpha 1  ITGA1  integrin, alpha 1  Symbol and/or name change 5135510 APPROVED