FOXO4 (forkhead box O4) - Rat Genome Database

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Gene: FOXO4 (forkhead box O4) Homo sapiens
Analyze
Symbol: FOXO4
Name: forkhead box O4
RGD ID: 1353756
HGNC Page HGNC:7139
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; beta-catenin binding activity; and identical protein binding activity. Involved in several processes, including insulin receptor signaling pathway; negative regulation of G0 to G1 transition; and negative regulation of angiogenesis. Located in cytosol and nuclear speck.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AFX; AFX1; fork head domain transcription factor AFX1; forkhead box protein O4; MGC120490; MLLT7; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila), translocated to, 7; translocated to, 7
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
GRCh38X71,095,851 - 71,103,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX71,095,851 - 71,103,535 (+)EnsemblGRCh38hg38GRCh38
GRCh37X70,315,701 - 70,323,382 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,232,751 - 70,240,109 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X70,099,230 - 70,106,405NCBI
CeleraX70,670,001 - 70,677,287 (+)NCBICelera
Cytogenetic MapXq13.1NCBI
HuRefX64,135,718 - 64,143,103 (+)NCBIHuRef
CHM1_1X70,208,338 - 70,215,723 (+)NCBICHM1_1
T2T-CHM13v2.0X69,529,947 - 69,537,628 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-palmitoylglycerol  (EXP)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-nitrophenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
antimycin A  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
Azoxymethane  (ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
choline  (ISO)
cisplatin  (EXP)
clothianidin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (ISO)
cyclosporin A  (EXP)
DDE  (EXP)
deguelin  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
disulfiram  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fipronil  (ISO)
folic acid  (ISO)
fonofos  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
L-methionine  (ISO)
LY294002  (EXP)
malathion  (EXP)
nickel atom  (EXP)
niclosamide  (EXP)
NMN zwitterion  (EXP)
ozone  (ISO)
paracetamol  (ISO)
parathion  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP)
silicon dioxide  (EXP)
sodium dodecyl sulfate  (EXP)
sunitinib  (EXP)
tamibarotene  (EXP)
terbufos  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
tungsten  (ISO)
urethane  (EXP)
wortmannin  (EXP)
zinc atom  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytoplasm  (IDA,IEA)
cytosol  (IDA,TAS)
nuclear speck  (IDA)
nucleoplasm  (IEA,TAS)
nucleus  (IBA,IDA,IEA,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. The role of FoxO4 in the relationship between alcohol-induced intestinal barrier dysfunction and liver injury. Chang B, etal., Int J Mol Med. 2013 Mar;31(3):569-76. doi: 10.3892/ijmm.2013.1229. Epub 2013 Jan 4.
2. Gene and protein expression associated with protein synthesis and breakdown in paraplegic skeletal muscle. Drummond MJ, etal., Muscle Nerve. 2008 Apr;37(4):505-13.
3. Atrogin-1/MAFbx and MuRF1 are downregulated in aging-related loss of skeletal muscle. Edstrom E, etal., J Gerontol A Biol Sci Med Sci. 2006 Jul;61(7):663-74.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Effect of the IGF-1/PTEN/Akt/FoxO signaling pathway on the development and healing of water immersion and restraint stress-induced gastric ulcers in rats. Huang P, etal., Int J Mol Med. 2012 Sep;30(3):650-8. doi: 10.3892/ijmm.2012.1041. Epub 2012 Jun 20.
6. FoxO4 regulates tumor necrosis factor alpha-directed smooth muscle cell migration by activating matrix metalloproteinase 9 gene transcription. Li H, etal., Mol Cell Biol. 2007 Apr;27(7):2676-86. Epub 2007 Jan 22.
7. Phenotypic modulation of smooth muscle cells through interaction of Foxo4 and myocardin. Liu ZP, etal., Dev Cell. 2005 Aug;9(2):261-70.
8. Smad transcription factors. Massagué J, etal., Genes Dev. 2005 Dec 1;19(23):2783-810.
9. FoxOs are lineage-restricted redundant tumor suppressors and regulate endothelial cell homeostasis. Paik JH, etal., Cell. 2007 Jan 26;128(2):309-23. doi: 10.1016/j.cell.2006.12.029.
10. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. How the Smads regulate transcription. Ross S and Hill CS, Int J Biochem Cell Biol. 2008;40(3):383-408. Epub 2007 Oct 7.
Additional References at PubMed
PMID:7529552   PMID:9010221   PMID:9341872   PMID:10217147   PMID:10518537   PMID:10783894   PMID:10880363   PMID:10921784   PMID:10973497   PMID:11313479   PMID:11352721   PMID:11435445  
PMID:11689711   PMID:11777915   PMID:11779849   PMID:11884591   PMID:12192052   PMID:12477932   PMID:12761217   PMID:12960271   PMID:12964026   PMID:14690436   PMID:15084259   PMID:15126506  
PMID:15342556   PMID:15489334   PMID:15538382   PMID:15688004   PMID:15688030   PMID:15824087   PMID:15905404   PMID:16114898   PMID:16215946   PMID:16272144   PMID:16571842   PMID:16964248  
PMID:17244620   PMID:18648506   PMID:18665269   PMID:18692812   PMID:18794148   PMID:19244250   PMID:19274049   PMID:19416966   PMID:19560465   PMID:19932102   PMID:20037138   PMID:20136501  
PMID:20348951   PMID:20570964   PMID:20733005   PMID:20874444   PMID:20934750   PMID:21123876   PMID:21388494   PMID:21454807   PMID:21510935   PMID:21525355   PMID:21536589   PMID:21567078  
PMID:21613825   PMID:21708191   PMID:21873635   PMID:21934092   PMID:22112832   PMID:22125836   PMID:22285440   PMID:22411791   PMID:22972301   PMID:23332764   PMID:23333309   PMID:23551888  
PMID:23707940   PMID:23770673   PMID:24353279   PMID:24663349   PMID:24886657   PMID:24935588   PMID:24983969   PMID:24984152   PMID:25007147   PMID:25053419   PMID:25416956   PMID:25609649  
PMID:25648147   PMID:25753202   PMID:25958948   PMID:26463624   PMID:26715362   PMID:26780985   PMID:26797321   PMID:27027443   PMID:27911272   PMID:27976702   PMID:28473536   PMID:28554751  
PMID:28699853   PMID:28945225   PMID:28963932   PMID:28973411   PMID:29719213   PMID:30021884   PMID:30249393   PMID:30610793   PMID:30643063   PMID:31351930   PMID:31529218   PMID:31712122  
PMID:32329448   PMID:32820304   PMID:32847377   PMID:33101846   PMID:33211221   PMID:33238881   PMID:33463054   PMID:33577016   PMID:33649837   PMID:33723462   PMID:33961781   PMID:34055579  
PMID:34320339   PMID:34800438   PMID:34954873   PMID:36042628   PMID:36075446   PMID:36700213   PMID:36931259   PMID:37861000   PMID:38037460  


Genomics

Comparative Map Data
FOXO4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X71,095,851 - 71,103,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX71,095,851 - 71,103,535 (+)EnsemblGRCh38hg38GRCh38
GRCh37X70,315,701 - 70,323,382 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,232,751 - 70,240,109 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X70,099,230 - 70,106,405NCBI
CeleraX70,670,001 - 70,677,287 (+)NCBICelera
Cytogenetic MapXq13.1NCBI
HuRefX64,135,718 - 64,143,103 (+)NCBIHuRef
CHM1_1X70,208,338 - 70,215,723 (+)NCBICHM1_1
T2T-CHM13v2.0X69,529,947 - 69,537,628 (+)NCBIT2T-CHM13v2.0
Foxo4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X100,297,855 - 100,304,479 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX100,298,134 - 100,304,479 (+)EnsemblGRCm39 Ensembl
GRCm38X101,254,261 - 101,260,873 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX101,254,528 - 101,260,873 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X98,449,867 - 98,456,212 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X97,457,247 - 97,462,413 (+)NCBIMGSCv36mm8
CeleraX88,170,853 - 88,177,001 (+)NCBICelera
Cytogenetic MapXDNCBI
cM MapX43.89NCBI
Foxo4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X70,425,218 - 70,432,120 (+)NCBIGRCr8
mRatBN7.2X66,385,241 - 66,392,115 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX66,385,558 - 66,392,115 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX67,868,914 - 67,875,471 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X71,369,302 - 71,375,859 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X68,930,209 - 68,936,766 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X71,155,284 - 71,162,158 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX71,155,601 - 71,162,158 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X72,007,762 - 72,014,636 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X89,332,278 - 89,338,835 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX66,741,475 - 66,748,019 (+)NCBICelera
Cytogenetic MapXq22NCBI
Foxo4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547510,665,987 - 10,674,110 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547510,666,024 - 10,673,717 (+)NCBIChiLan1.0ChiLan1.0
FOXO4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X70,773,607 - 70,781,292 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X70,777,210 - 70,784,897 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X60,364,466 - 60,372,147 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X70,422,504 - 70,429,971 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX70,422,504 - 70,429,971 (+)Ensemblpanpan1.1panPan2
FOXO4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X55,469,738 - 55,477,699 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX55,469,382 - 55,477,699 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX46,296,815 - 46,304,773 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X56,438,647 - 56,446,613 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX56,438,272 - 56,446,607 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X54,406,889 - 54,414,846 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X55,738,314 - 55,746,276 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X55,665,450 - 55,673,416 (+)NCBIUU_Cfam_GSD_1.0
Foxo4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X46,731,760 - 46,739,080 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936762493,910 - 501,531 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936762495,271 - 501,278 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXO4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX57,132,548 - 57,140,356 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X57,132,549 - 57,140,377 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X64,662,694 - 64,670,530 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FOXO4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X60,893,711 - 60,901,134 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX60,893,526 - 60,902,844 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660652,753,315 - 2,760,992 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Foxo4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249031,391,910 - 1,399,949 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249031,390,899 - 1,399,745 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FOXO4
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1		 pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1		 pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.1(chrX:70974174-71207055)x2 copy number gain See cases [RCV000136018] ChrX:70974174..71207055 [GRCh38]
ChrX:70194024..70426905 [GRCh37]
ChrX:70110749..70343630 [NCBI36]
ChrX:Xq13.1		 uncertain significance
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3		 pathogenic
GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2 copy number gain See cases [RCV000143302] ChrX:71071787..71777197 [GRCh38]
ChrX:70291637..70997047 [GRCh37]
ChrX:70208362..70913772 [NCBI36]
ChrX:Xq13.1		 uncertain significance
GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2 copy number gain See cases [RCV000143525] ChrX:71022322..71682982 [GRCh38]
ChrX:70242172..70902832 [GRCh37]
ChrX:70158897..70819557 [NCBI36]
ChrX:Xq13.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1		 pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x3 copy number gain See cases [RCV000511625] ChrX:70287671..70997047 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_005938.4(FOXO4):c.946C>T (p.His316Tyr) single nucleotide variant not specified [RCV004310997] ChrX:71101176 [GRCh38]
ChrX:70321026 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x2 copy number gain See cases [RCV000512522] ChrX:70287671..70997047 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 pathogenic
GRCh37/hg19 Xq13.1(chrX:70313664-70568458)x2 copy number gain not provided [RCV000753588] ChrX:70313664..70568458 [GRCh37]
ChrX:Xq13.1		 benign
GRCh37/hg19 Xq13.1(chrX:70323237-70431963)x2 copy number gain not provided [RCV000753589] ChrX:70323237..70431963 [GRCh37]
ChrX:Xq13.1		 benign
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_005938.4(FOXO4):c.449G>A (p.Trp150Ter) single nucleotide variant Macrocephaly [RCV003311595] ChrX:71096977 [GRCh38]
ChrX:70316827 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.687G>A (p.Thr229=) single nucleotide variant not provided [RCV000970393] ChrX:71100917 [GRCh38]
ChrX:70320767 [GRCh37]
ChrX:Xq13.1		 benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_005938.4(FOXO4):c.1151C>A (p.Thr384Asn) single nucleotide variant not specified [RCV004286600] ChrX:71101381 [GRCh38]
ChrX:70321231 [GRCh37]
ChrX:Xq13.1		 uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
NM_005938.4(FOXO4):c.697G>A (p.Gly233Ser) single nucleotide variant not specified [RCV004300291] ChrX:71100927 [GRCh38]
ChrX:70320777 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005938.4(FOXO4):c.385G>T (p.Glu129Ter) single nucleotide variant not provided [RCV001812497] ChrX:71096913 [GRCh38]
ChrX:70316763 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_005938.4(FOXO4):c.830A>C (p.Glu277Ala) single nucleotide variant Intellectual disability [RCV001816028] ChrX:71101060 [GRCh38]
ChrX:70320910 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1(chrX:69917640-70638292)x2 copy number gain not provided [RCV001836485] ChrX:69917640..70638292 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) copy number gain not specified [RCV002053135] ChrX:61877278..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) copy number gain not specified [RCV002053136] ChrX:61974855..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_69748945)_(70644108_?)dup duplication FG syndrome 1 [RCV003116312] ChrX:69748945..70644108 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005938.4(FOXO4):c.1234G>A (p.Val412Ile) single nucleotide variant not specified [RCV004190323] ChrX:71101464 [GRCh38]
ChrX:70321314 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.686C>T (p.Thr229Met) single nucleotide variant not specified [RCV004228784] ChrX:71100916 [GRCh38]
ChrX:70320766 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.508G>A (p.Glu170Lys) single nucleotide variant not specified [RCV004237581] ChrX:71100738 [GRCh38]
ChrX:70320588 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.11G>T (p.Gly4Val) single nucleotide variant not specified [RCV004202987] ChrX:71096539 [GRCh38]
ChrX:70316389 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.560G>C (p.Ser187Thr) single nucleotide variant not specified [RCV004072945] ChrX:71100790 [GRCh38]
ChrX:70320640 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.644A>G (p.Lys215Arg) single nucleotide variant not specified [RCV004202615] ChrX:71100874 [GRCh38]
ChrX:70320724 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.1357G>A (p.Val453Met) single nucleotide variant not specified [RCV004075725] ChrX:71101587 [GRCh38]
ChrX:70321437 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.248G>A (p.Gly83Glu) single nucleotide variant not specified [RCV004266465] ChrX:71096776 [GRCh38]
ChrX:70316626 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.1136C>T (p.Ala379Val) single nucleotide variant not specified [RCV004276022] ChrX:71101366 [GRCh38]
ChrX:70321216 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.670G>A (p.Glu224Lys) single nucleotide variant not specified [RCV004296953] ChrX:71100900 [GRCh38]
ChrX:70320750 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.1140C>T (p.Asp380=) single nucleotide variant not provided [RCV003439567] ChrX:71101370 [GRCh38]
ChrX:70321220 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_005938.4(FOXO4):c.666A>C (p.Pro222=) single nucleotide variant not provided [RCV003439566] ChrX:71100896 [GRCh38]
ChrX:70320746 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848) copy number gain not specified [RCV003986211] ChrX:61877278..79122848 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
NC_000023.11:g.(?_66445907)_(78172208_?)dup duplication Xq13q21 duplication [RCV003885331] ChrX:66445907..78172208 [GRCh38]
ChrX:Xq12-21.1		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_005938.4(FOXO4):c.1334T>C (p.Ile445Thr) single nucleotide variant not specified [RCV004394406] ChrX:71101564 [GRCh38]
ChrX:70321414 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.950C>T (p.Ser317Phe) single nucleotide variant not specified [RCV004394409] ChrX:71101180 [GRCh38]
ChrX:70321030 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.197C>G (p.Pro66Arg) single nucleotide variant not specified [RCV004394407] ChrX:71096725 [GRCh38]
ChrX:70316575 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.1268G>A (p.Gly423Asp) single nucleotide variant not specified [RCV004394405] ChrX:71101498 [GRCh38]
ChrX:70321348 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_63409759)_(71933728_?)dup duplication not provided [RCV004582202] ChrX:63409759..71933728 [GRCh37]
ChrX:Xq11.2-13.2		 uncertain significance
NM_005938.4(FOXO4):c.43A>T (p.Ile15Phe) single nucleotide variant not specified [RCV004621272] ChrX:71096571 [GRCh38]
ChrX:70316421 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.1112C>T (p.Thr371Ile) single nucleotide variant not specified [RCV004621273] ChrX:71101342 [GRCh38]
ChrX:70321192 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_005938.4(FOXO4):c.1420A>G (p.Met474Val) single nucleotide variant not specified [RCV004621274] ChrX:71101650 [GRCh38]
ChrX:70321500 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR499Ahsa-miR-499a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21934092
MIR499Ahsa-miR-499a-5pOncomiRDBexternal_infoNANA21934092

Predicted Target Of
Summary Value
Count of predictions:1699
Count of miRNA genes:799
Interacting mature miRNAs:956
Transcripts:ENST00000341558, ENST00000374259, ENST00000464598, ENST00000466874
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression

RNA-SEQ Expression

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
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4944 1723 2347 5 622 1948 464 2268 7287 6459 52 3710 850 1738 1613 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF384029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW292413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP349083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U10072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X93996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000341558   ⟹   ENSP00000342209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX71,096,529 - 71,103,535 (+)Ensembl
Ensembl Acc Id: ENST00000374259   ⟹   ENSP00000363377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX71,095,851 - 71,103,532 (+)Ensembl
Ensembl Acc Id: ENST00000464598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX71,099,308 - 71,100,843 (+)Ensembl
Ensembl Acc Id: ENST00000466874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX71,096,253 - 71,100,772 (+)Ensembl
RefSeq Acc Id: NM_001170931   ⟹   NP_001164402
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,095,851 - 71,103,532 (+)NCBI
GRCh37X70,315,999 - 70,323,384 (+)ENTREZGENE
HuRefX64,135,718 - 64,143,103 (+)ENTREZGENE
CHM1_1X70,208,338 - 70,215,723 (+)NCBI
T2T-CHM13v2.0X69,529,947 - 69,537,628 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005938   ⟹   NP_005929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,095,851 - 71,103,532 (+)NCBI
GRCh37X70,315,999 - 70,323,384 (+)ENTREZGENE
Build 36X70,232,751 - 70,240,109 (+)NCBI Archive
HuRefX64,135,718 - 64,143,103 (+)ENTREZGENE
CHM1_1X70,208,338 - 70,215,723 (+)NCBI
T2T-CHM13v2.0X69,529,947 - 69,537,628 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005929   ⟸   NM_005938
- Peptide Label: isoform 1
- UniProtKB: Q3KPF1 (UniProtKB/Swiss-Prot),   Q13720 (UniProtKB/Swiss-Prot),   O43821 (UniProtKB/Swiss-Prot),   B7WPJ7 (UniProtKB/Swiss-Prot),   Q8TDK9 (UniProtKB/Swiss-Prot),   P98177 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164402   ⟸   NM_001170931
- Peptide Label: isoform 2
- UniProtKB: P98177 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000363377   ⟸   ENST00000374259
Ensembl Acc Id: ENSP00000342209   ⟸   ENST00000341558

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P98177-F1-model_v2 AlphaFold P98177 1-505 view protein structure

Promoters
RGD ID:6808863
Promoter ID:HG_KWN:67152
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000374256,   ENST00000374259,   ENST00000399704,   NM_001170931,   OTTHUMT00000057119,   UC004DYT.1,   UC010NKZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,232,271 - 70,232,957 (+)MPROMDB
RGD ID:6808856
Promoter ID:HG_KWN:67153
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000057117
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,235,151 - 70,236,202 (+)MPROMDB
RGD ID:6808857
Promoter ID:HG_KWN:67154
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000057118
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,237,411 - 70,238,422 (+)MPROMDB
RGD ID:13627388
Promoter ID:EPDNEW_H28969
Type:initiation region
Name:FOXO4_1
Description:forkhead box O4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28970  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,095,851 - 71,095,911EPDNEW
RGD ID:13627390
Promoter ID:EPDNEW_H28970
Type:initiation region
Name:FOXO4_2
Description:forkhead box O4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28969  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,096,176 - 71,096,236EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7139 AgrOrtholog
COSMIC FOXO4 COSMIC
Ensembl Genes ENSG00000184481 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000341558 ENTREZGENE
  ENST00000341558.3 UniProtKB/Swiss-Prot
  ENST00000374259 ENTREZGENE
  ENST00000374259.8 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000184481 GTEx
HGNC ID HGNC:7139 ENTREZGENE
Human Proteome Map FOXO4 Human Proteome Map
InterPro FH_FOXO4 UniProtKB/Swiss-Prot
  Fork_head_dom UniProtKB/Swiss-Prot
  FOXO-TAD UniProtKB/Swiss-Prot
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:4303 UniProtKB/Swiss-Prot
NCBI Gene 4303 ENTREZGENE
OMIM 300033 OMIM
PANTHER FORKHEAD BOX PROTEIN O UniProtKB/Swiss-Prot
  FORKHEAD BOX PROTEIN O4 UniProtKB/Swiss-Prot
Pfam Forkhead UniProtKB/Swiss-Prot
  FOXO-TAD UniProtKB/Swiss-Prot
PharmGKB PA162388882 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot
PROSITE FORK_HEAD_2 UniProtKB/Swiss-Prot
  FORK_HEAD_3 UniProtKB/Swiss-Prot
SMART SM00339 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
UniProt B7WPJ7 ENTREZGENE
  FOXO4_HUMAN UniProtKB/Swiss-Prot
  O43821 ENTREZGENE
  P98177 ENTREZGENE
  Q13720 ENTREZGENE
  Q3KPF1 ENTREZGENE
  Q8TDK9 ENTREZGENE
UniProt Secondary B7WPJ7 UniProtKB/Swiss-Prot
  O43821 UniProtKB/Swiss-Prot
  Q13720 UniProtKB/Swiss-Prot
  Q3KPF1 UniProtKB/Swiss-Prot
  Q8TDK9 UniProtKB/Swiss-Prot