OAF (out at first homolog) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: OAF (out at first homolog) Homo sapiens
Analyze
Symbol: OAF
Name: out at first homolog
RGD ID: 1602422
HGNC Page HGNC:28752
Description: ASSOCIATED WITH CD3epsilon deficiency; Chromosome 11, Partial Trisomy 11q; Dwarfism; INTERACTS WITH 1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane; 2,3,7,8-tetrachlorodibenzodioxine; 2-palmitoylglycerol
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: HCV NS5A-transactivated protein 13 target protein 2; MGC52117; NS5ATP13TP2; OAF homolog; out at first protein homolog
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
GRCh3811120,211,032 - 120,230,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11120,211,032 - 120,230,334 (+)EnsemblGRCh38hg38GRCh38
GRCh3711120,081,740 - 120,101,043 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611119,586,957 - 119,605,860 (+)NCBINCBI36Build 36hg18NCBI36
Celera11117,239,997 - 117,258,863 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11116,021,485 - 116,040,231 (+)NCBIHuRef
CHM1_111119,969,201 - 119,988,096 (+)NCBICHM1_1
T2T-CHM13v2.011120,233,870 - 120,253,135 (+)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
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-palmitoylglycerol  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
atrazine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
calcium silicate  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
clofibrate  (ISO)
clomipramine  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
diethyl maleate  (ISO)
dioxygen  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
fenthion  (ISO)
fipronil  (ISO)
flutamide  (ISO)
fulvestrant  (EXP)
furan  (ISO)
glafenine  (ISO)
glutathione  (ISO)
imipramine  (ISO)
ketoconazole  (ISO)
L-ethionine  (ISO)
leflunomide  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
omeprazole  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
parathion  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:17207965   PMID:23376485   PMID:26186194   PMID:27576135   PMID:28514442   PMID:33961781   PMID:35696571   PMID:35964702   PMID:36699367  


Genomics

Comparative Map Data
OAF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811120,211,032 - 120,230,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11120,211,032 - 120,230,334 (+)EnsemblGRCh38hg38GRCh38
GRCh3711120,081,740 - 120,101,043 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611119,586,957 - 119,605,860 (+)NCBINCBI36Build 36hg18NCBI36
Celera11117,239,997 - 117,258,863 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11116,021,485 - 116,040,231 (+)NCBIHuRef
CHM1_111119,969,201 - 119,988,096 (+)NCBICHM1_1
T2T-CHM13v2.011120,233,870 - 120,253,135 (+)NCBIT2T-CHM13v2.0
Oaf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39943,132,575 - 43,151,113 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl943,132,532 - 43,151,208 (-)EnsemblGRCm39 Ensembl
GRCm38943,221,278 - 43,239,816 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl943,221,235 - 43,239,911 (-)EnsemblGRCm38mm10GRCm38
MGSCv37943,029,361 - 43,047,899 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36942,972,273 - 42,990,811 (-)NCBIMGSCv36mm8
Celera940,474,322 - 40,492,817 (-)NCBICelera
Cytogenetic Map9A5.1NCBI
cM Map924.24NCBI
Oaf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8852,491,314 - 52,509,285 (-)NCBIGRCr8
mRatBN7.2843,594,362 - 43,612,334 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl843,594,363 - 43,612,334 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx849,092,153 - 49,110,146 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0847,370,822 - 47,388,815 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0845,238,440 - 45,256,433 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0847,511,718 - 47,529,689 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl847,511,719 - 47,529,689 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0845,980,601 - 45,998,572 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4846,224,861 - 46,242,832 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1846,233,627 - 46,251,598 (-)NCBI
Celera843,184,283 - 43,202,190 (-)NCBICelera
Cytogenetic Map8q22NCBI
Oaf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541221,235,927 - 21,251,182 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541221,235,927 - 21,251,100 (+)NCBIChiLan1.0ChiLan1.0
OAF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29120,912,578 - 120,931,955 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111122,016,468 - 122,035,657 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011115,045,790 - 115,065,032 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111118,972,578 - 118,991,550 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11118,972,574 - 118,991,170 (+)Ensemblpanpan1.1panPan2
OAF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1513,771,208 - 13,798,387 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl513,771,659 - 13,783,190 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha513,826,247 - 13,842,926 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0513,717,188 - 13,733,860 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl513,717,197 - 13,734,236 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1513,854,790 - 13,871,452 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0513,758,765 - 13,785,700 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0513,797,892 - 13,814,560 (-)NCBIUU_Cfam_GSD_1.0
Oaf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947102,149,586 - 102,166,267 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365425,070,468 - 5,091,298 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365425,070,995 - 5,087,676 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OAF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl947,345,165 - 47,362,998 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1947,344,916 - 47,363,768 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2952,413,284 - 52,431,295 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OAF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11111,614,890 - 111,634,309 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1111,615,001 - 111,638,431 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604314,425,828 - 14,444,899 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Oaf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478415,571,402 - 15,589,246 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478415,571,765 - 15,587,589 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OAF
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_178507.4(OAF):c.563T>A (p.Val188Glu) single nucleotide variant not specified [RCV004310694] Chr11:120228883 [GRCh38]
Chr11:120099592 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_178507.4(OAF):c.642C>T (p.Cys214=) single nucleotide variant not provided [RCV000910565] Chr11:120228962 [GRCh38]
Chr11:120099671 [GRCh37]
Chr11:11q23.3		 benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NC_000011.9:g.(?_119077108)_(120133495_?)dup duplication RASopathy [RCV001314250] Chr11:119077108..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NC_000011.9:g.(?_119103138)_(121060609_?)dup duplication not provided [RCV003116365] Chr11:119103138..121060609 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.427G>A (p.Asp143Asn) single nucleotide variant not specified [RCV004316506] Chr11:120226876 [GRCh38]
Chr11:120097585 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.703C>G (p.Arg235Gly) single nucleotide variant not specified [RCV004115207] Chr11:120229023 [GRCh38]
Chr11:120099732 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.404G>A (p.Arg135Gln) single nucleotide variant not specified [RCV004224811] Chr11:120226853 [GRCh38]
Chr11:120097562 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.400G>T (p.Val134Phe) single nucleotide variant not specified [RCV004169186] Chr11:120226849 [GRCh38]
Chr11:120097558 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.282G>C (p.Gln94His) single nucleotide variant not specified [RCV004163099] Chr11:120225711 [GRCh38]
Chr11:120096420 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.737G>A (p.Arg246His) single nucleotide variant not specified [RCV004243772] Chr11:120229057 [GRCh38]
Chr11:120099766 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.373C>T (p.Pro125Ser) single nucleotide variant not specified [RCV004112445] Chr11:120226822 [GRCh38]
Chr11:120097531 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.440A>G (p.Asn147Ser) single nucleotide variant not specified [RCV004171211] Chr11:120226889 [GRCh38]
Chr11:120097598 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.58C>T (p.Leu20Phe) single nucleotide variant not specified [RCV004233540] Chr11:120211337 [GRCh38]
Chr11:120082045 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.607C>G (p.Arg203Gly) single nucleotide variant not specified [RCV004173597] Chr11:120228927 [GRCh38]
Chr11:120099636 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.10C>G (p.Pro4Ala) single nucleotide variant not specified [RCV004144424] Chr11:120211289 [GRCh38]
Chr11:120081997 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.709C>T (p.Arg237Trp) single nucleotide variant not specified [RCV004208030] Chr11:120229029 [GRCh38]
Chr11:120099738 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.377G>A (p.Arg126Gln) single nucleotide variant not specified [RCV004220012] Chr11:120226826 [GRCh38]
Chr11:120097535 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.287A>G (p.Gln96Arg) single nucleotide variant not specified [RCV004362191] Chr11:120225716 [GRCh38]
Chr11:120096425 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
GRCh37/hg19 11q23.3-24.1(chr11:119688645-122861792)x3 copy number gain not provided [RCV003484853] Chr11:119688645..122861792 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_178507.4(OAF):c.161C>G (p.Ala54Gly) single nucleotide variant not specified [RCV004496443] Chr11:120211440 [GRCh38]
Chr11:120082148 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.481G>A (p.Val161Met) single nucleotide variant not specified [RCV004496444] Chr11:120226930 [GRCh38]
Chr11:120097639 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.520G>A (p.Glu174Lys) single nucleotide variant not specified [RCV004496446] Chr11:120226969 [GRCh38]
Chr11:120097678 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_178507.4(OAF):c.704G>A (p.Arg235His) single nucleotide variant not specified [RCV004496447] Chr11:120229024 [GRCh38]
Chr11:120099733 [GRCh37]
Chr11:11q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1171
Count of miRNA genes:658
Interacting mature miRNAs:778
Transcripts:ENST00000328965, ENST00000531220, ENST00000534735
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH93764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711120,100,256 - 120,100,376UniSTSGRCh37
Build 3611119,605,466 - 119,605,586RGDNCBI36
Celera11117,258,469 - 117,258,589RGD
Cytogenetic Map11q23.3UniSTS
HuRef11116,039,837 - 116,039,957UniSTS
GeneMap99-GB4 RH Map11389.99UniSTS
RH121884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711120,100,439 - 120,100,581UniSTSGRCh37
Build 3611119,605,649 - 119,605,791RGDNCBI36
Celera11117,258,652 - 117,258,794RGD
Cytogenetic Map11q23.3UniSTS
HuRef11116,040,020 - 116,040,162UniSTS
TNG Radiation Hybrid Map1155747.0UniSTS
D1S2077E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,241 - 568,324UniSTSGRCh37
GRCh37MT7,690 - 7,773UniSTSGRCh37
Build 361558,104 - 558,187RGDNCBI36
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map11q13UniSTS
HuRef14,495 - 4,578UniSTS
WI-17120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711120,095,854 - 120,095,953UniSTSGRCh37
Build 3611119,601,064 - 119,601,163RGDNCBI36
Celera11117,254,066 - 117,254,165RGD
Cytogenetic Map11q23.3UniSTS
HuRef11116,035,434 - 116,035,533UniSTS
GeneMap99-GB4 RH Map11388.08UniSTS
Whitehead-RH Map11545.0UniSTS
STS-H80295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711120,085,609 - 120,085,758UniSTSGRCh37
Build 3611119,590,819 - 119,590,968RGDNCBI36
Celera11117,243,855 - 117,244,004RGD
Cytogenetic Map11q23.3UniSTS
HuRef11116,025,222 - 116,025,371UniSTS
GeneMap99-GB4 RH Map11388.08UniSTS
STS-D20864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711120,100,452 - 120,100,623UniSTSGRCh37
Build 3611119,605,662 - 119,605,833RGDNCBI36
Celera11117,258,665 - 117,258,836RGD
Cytogenetic Map11q23.3UniSTS
HuRef11116,040,033 - 116,040,204UniSTS
GeneMap99-GB4 RH Map11391.83UniSTS
WI-21512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711120,100,321 - 120,100,574UniSTSGRCh37
Build 3611119,605,531 - 119,605,784RGDNCBI36
Celera11117,258,534 - 117,258,787RGD
Cytogenetic Map11q23.3UniSTS
HuRef11116,039,902 - 116,040,155UniSTS
GeneMap99-GB4 RH Map11387.86UniSTS
Whitehead-RH Map11543.8UniSTS
SHGC-57364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,715 - 568,840UniSTSGRCh37
GRCh37MT8,164 - 8,291UniSTSGRCh37
Build 361558,578 - 558,703RGDNCBI36
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.32UniSTS
HuRef14,969 - 5,094UniSTS


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 2401 1338 1700 602 607 456 2474 1347 2551 405 1071 1389 155 1202 1347 1
Low 37 1627 24 22 1259 8 1880 848 1165 14 386 195 19 1 2 1441 3 2
Below cutoff 1 24 1 69 1 2 1 13 3 18 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000328965   ⟹   ENSP00000332613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11120,211,032 - 120,230,334 (+)Ensembl
RefSeq Acc Id: ENST00000531220   ⟹   ENSP00000431865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11120,211,301 - 120,229,240 (+)Ensembl
RefSeq Acc Id: ENST00000534735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11120,213,736 - 120,217,513 (+)Ensembl
RefSeq Acc Id: NM_178507   ⟹   NP_848602
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811120,211,032 - 120,230,334 (+)NCBI
GRCh3711120,081,747 - 120,100,650 (+)RGD
Build 3611119,586,957 - 119,605,860 (+)NCBI Archive
Celera11117,239,997 - 117,258,863 (+)RGD
HuRef11116,021,485 - 116,040,231 (+)ENTREZGENE
CHM1_111119,969,201 - 119,988,096 (+)NCBI
T2T-CHM13v2.011120,233,870 - 120,253,135 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_848602 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH47726 (Get FASTA)   NCBI Sequence Viewer  
  AAR23238 (Get FASTA)   NCBI Sequence Viewer  
  CAJ44929 (Get FASTA)   NCBI Sequence Viewer  
  CBF57582 (Get FASTA)   NCBI Sequence Viewer  
  EAW67502 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000332613
  ENSP00000332613.3
  ENSP00000431865.1
GenBank Protein Q86UD1 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_848602   ⟸   NM_178507
- Peptide Label: precursor
- UniProtKB: Q86UD1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000431865   ⟸   ENST00000531220
RefSeq Acc Id: ENSP00000332613   ⟸   ENST00000328965

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86UD1-F1-model_v2 AlphaFold Q86UD1 1-273 view protein structure

Promoters
RGD ID:6789180
Promoter ID:HG_KWN:14398
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_178507
Position:
Human AssemblyChrPosition (strand)Source
Build 3611119,586,899 - 119,587,399 (+)MPROMDB
RGD ID:7222429
Promoter ID:EPDNEW_H16960
Type:initiation region
Name:OAF_2
Description:out at first homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16961  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811120,210,775 - 120,210,835EPDNEW
RGD ID:7222431
Promoter ID:EPDNEW_H16961
Type:initiation region
Name:OAF_1
Description:out at first homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16960  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811120,211,032 - 120,211,092EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28752 AgrOrtholog
COSMIC OAF COSMIC
Ensembl Genes ENSG00000184232 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000328965 ENTREZGENE
  ENST00000328965.9 UniProtKB/Swiss-Prot
  ENST00000531220.1 UniProtKB/TrEMBL
GTEx ENSG00000184232 GTEx
HGNC ID HGNC:28752 ENTREZGENE
Human Proteome Map OAF Human Proteome Map
InterPro Oaf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:220323 UniProtKB/Swiss-Prot
NCBI Gene 220323 ENTREZGENE
PANTHER OUT AT FIRST PROTEIN HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13423 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam OAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671234 PharmGKB
UniProt E9PJ29_HUMAN UniProtKB/TrEMBL
  OAF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 OAF  out at first homolog    OAF homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED