FOXK2 (forkhead box K2) - Rat Genome Database

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Gene: FOXK2 (forkhead box K2) Homo sapiens
Analyze
Symbol: FOXK2
Name: forkhead box K2
RGD ID: 1313423
HGNC Page HGNC:6036
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and magnesium ion binding activity. Involved in negative regulation of DNA-templated transcription and positive regulation of transcription by RNA polymerase II. Located in mitochondrion and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cellular transcription factor ILF-1; forkhead box protein K2; FOXK1; ILF; ILF-1; ILF1; interleukin enhancer binding factor 1; interleukin enhancer-binding factor 1; nGTBP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381782,519,732 - 82,604,602 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1782,519,713 - 82,644,662 (+)EnsemblGRCh38hg38GRCh38
GRCh371780,477,608 - 80,562,478 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361778,070,883 - 78,155,772 (+)NCBINCBI36Build 36hg18NCBI36
Celera1777,111,986 - 77,156,788 (+)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1775,853,028 - 75,962,881 (+)NCBIHuRef
CHM1_11780,541,303 - 80,648,238 (+)NCBICHM1_1
T2T-CHM13v2.01783,388,689 - 83,478,590 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1339390   PMID:1909027   PMID:3260003   PMID:9065434   PMID:11230166   PMID:12402362   PMID:12477932   PMID:14702039   PMID:16624804   PMID:16625196   PMID:16964243   PMID:18029348  
PMID:19274049   PMID:19615732   PMID:19815555   PMID:20097901   PMID:20805357   PMID:20810654   PMID:21282530   PMID:21873635   PMID:21903422   PMID:22083952   PMID:23667531   PMID:24163370  
PMID:24748658   PMID:25451922   PMID:25544563   PMID:25609649   PMID:25740706   PMID:25805136   PMID:26186194   PMID:26344197   PMID:26416890   PMID:26496610   PMID:26578569   PMID:26673895  
PMID:26760575   PMID:27173435   PMID:27637333   PMID:27705803   PMID:27773593   PMID:28007600   PMID:28260088   PMID:28506857   PMID:28514442   PMID:28611215   PMID:28675297   PMID:29117863  
PMID:29368368   PMID:29507755   PMID:29785026   PMID:29844126   PMID:30221666   PMID:30415952   PMID:30700909   PMID:30804502   PMID:31239290   PMID:31281520   PMID:31340145   PMID:31401147  
PMID:31527615   PMID:31911943   PMID:31993998   PMID:32217695   PMID:32344865   PMID:32416067   PMID:32552912   PMID:32669118   PMID:32683582   PMID:33001583   PMID:33080218   PMID:33434264  
PMID:33742100   PMID:33961781   PMID:34079125   PMID:34186245   PMID:34299191   PMID:34329193   PMID:34489549   PMID:34591877   PMID:35013218   PMID:35031058   PMID:35090377   PMID:35140242  
PMID:35271311   PMID:35349489   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35748872   PMID:35987950   PMID:36089195   PMID:36180891   PMID:36215168   PMID:36244648   PMID:36398662  
PMID:36537216   PMID:36543142   PMID:36682222   PMID:36922872   PMID:37356282   PMID:38297188  


Genomics

Comparative Map Data
FOXK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381782,519,732 - 82,604,602 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1782,519,713 - 82,644,662 (+)EnsemblGRCh38hg38GRCh38
GRCh371780,477,608 - 80,562,478 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361778,070,883 - 78,155,772 (+)NCBINCBI36Build 36hg18NCBI36
Celera1777,111,986 - 77,156,788 (+)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1775,853,028 - 75,962,881 (+)NCBIHuRef
CHM1_11780,541,303 - 80,648,238 (+)NCBICHM1_1
T2T-CHM13v2.01783,388,689 - 83,478,590 (+)NCBIT2T-CHM13v2.0
Foxk2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911121,150,805 - 121,200,726 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11121,150,816 - 121,200,722 (+)EnsemblGRCm39 Ensembl
GRCm3811121,259,987 - 121,309,900 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11121,259,990 - 121,309,896 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711121,121,301 - 121,171,210 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611121,071,584 - 121,125,986 (+)NCBIMGSCv36mm8
Celera11132,998,223 - 133,048,246 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1185.15NCBI
Foxk2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810107,040,933 - 107,090,860 (+)NCBIGRCr8
mRatBN7.210106,542,643 - 106,592,569 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10106,542,566 - 106,592,563 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10111,644,745 - 111,694,708 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010111,107,799 - 111,157,758 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010106,463,069 - 106,512,979 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010110,468,905 - 110,518,854 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10110,469,290 - 110,518,848 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010110,055,538 - 110,104,748 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410110,499,723 - 110,551,516 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110110,507,580 - 110,563,379 (+)NCBI
Celera10105,079,668 - 105,129,054 (+)NCBICelera
Cytogenetic Map10q32.3NCBI
Foxk2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955506569,143 - 614,503 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955506567,770 - 614,505 (-)NCBIChiLan1.0ChiLan1.0
FOXK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21999,054,659 - 99,143,689 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117103,960,043 - 104,051,885 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01776,930,135 - 77,018,294 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11782,735,098 - 82,803,573 (+)NCBIpanpan1.1PanPan1.1panPan2
FOXK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha9423,638 - 496,839 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.09415,405 - 488,161 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl9415,400 - 488,301 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.19409,508 - 482,714 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.09570,728 - 644,139 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.09646,043 - 718,660 (-)NCBIUU_Cfam_GSD_1.0
Foxk2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602403,090 - 458,832 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936923111,248 - 170,535 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936923109,973 - 166,952 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl12560,852 - 615,739 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.112560,848 - 615,646 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.212122,065 - 176,872 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FOXK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11674,426,111 - 74,506,453 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1674,426,105 - 74,503,373 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607746,065,716 - 46,148,414 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Foxk2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480111,260,836 - 11,304,773 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480111,260,838 - 11,303,656 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FOXK2
81 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 copy number gain See cases [RCV000050934] Chr17:78901959..83086677 [GRCh38]
Chr17:76898041..81044553 [GRCh37]
Chr17:74409636..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:82549058-83086677)x1 copy number loss See cases [RCV000051166] Chr17:82549058..83086677 [GRCh38]
Chr17:80506934..81044553 [GRCh37]
Chr17:78100223..78637842 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82523093-83072065)x1 copy number loss See cases [RCV000052051] Chr17:82523093..83072065 [GRCh38]
Chr17:80480969..81029941 [GRCh37]
Chr17:78074258..78623230 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1 copy number loss See cases [RCV000052052] Chr17:82588128..83061939 [GRCh38]
Chr17:80546004..81019815 [GRCh37]
Chr17:78139293..78613104 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 copy number gain See cases [RCV000052497] Chr17:78918650..83021095 [GRCh38]
Chr17:76914732..80978971 [GRCh37]
Chr17:74426327..78572260 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:80328106-83086677)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|See cases [RCV000053454] Chr17:80328106..83086677 [GRCh38]
Chr17:78301906..81044553 [GRCh37]
Chr17:75916501..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3 copy number gain See cases [RCV000054050] Chr17:82078456..82568008 [GRCh38]
Chr17:80036332..80525884 [GRCh37]
Chr17:77629621..78119173 [NCBI36]
Chr17:17q25.3		 uncertain significance
NM_004514.3(FOXK2):c.539C>T (p.Ser180Leu) single nucleotide variant Malignant melanoma [RCV000071724] Chr17:82563473 [GRCh38]
Chr17:80521349 [GRCh37]
Chr17:78114638 [NCBI36]
Chr17:17q25.3		 not provided
NM_004514.3(FOXK2):c.419+11857G>A single nucleotide variant Lung cancer [RCV000100670] Chr17:82532164 [GRCh38]
Chr17:80490040 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82452776-83102552)x3 copy number gain See cases [RCV000135704] Chr17:82452776..83102552 [GRCh38]
Chr17:80410652..81048189 [GRCh37]
Chr17:78003941..78653717 [NCBI36]
Chr17:17q25.3		 likely pathogenic|uncertain significance
GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1 copy number loss See cases [RCV000137356] Chr17:82072338..83102552 [GRCh38]
Chr17:80030214..81048189 [GRCh37]
Chr17:77623503..78653717 [NCBI36]
Chr17:17q25.3		 likely pathogenic
GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3 copy number gain See cases [RCV000138688] Chr17:81008196..83102584 [GRCh38]
Chr17:78981996..81048189 [GRCh37]
Chr17:76596591..78653749 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:82531299-83084062)x1 copy number loss See cases [RCV000139895] Chr17:82531299..83084062 [GRCh38]
Chr17:80489175..81041938 [GRCh37]
Chr17:78082464..78635227 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1 copy number loss See cases [RCV000142007] Chr17:81401966..83084062 [GRCh38]
Chr17:79375766..81041938 [GRCh37]
Chr17:76990361..78635227 [NCBI36]
Chr17:17q25.3		 likely pathogenic
GRCh38/hg38 17q25.3(chr17:82597488-83084062)x1 copy number loss See cases [RCV000141969] Chr17:82597488..83084062 [GRCh38]
Chr17:80555364..81041938 [GRCh37]
Chr17:78148653..78635227 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3 copy number gain See cases [RCV000141856] Chr17:82326074..82856150 [GRCh38]
Chr17:80283950..80814026 [GRCh37]
Chr17:77877239..78407315 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82597445-83084062)x1 copy number loss See cases [RCV000142229] Chr17:82597445..83084062 [GRCh38]
Chr17:80555321..81041938 [GRCh37]
Chr17:78148610..78635227 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
NM_004514.4(FOXK2):c.395C>T (p.Ala132Val) single nucleotide variant Inborn genetic diseases [RCV003267768] Chr17:82520283 [GRCh38]
Chr17:80478159 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80306702-80481025)x3 copy number gain not provided [RCV000584972] Chr17:80306702..80481025 [GRCh37]
Chr17:17q25.3		 likely benign
GRCh37/hg19 17q25.3(chr17:78514452-81041938)x1 copy number loss See cases [RCV000449416] Chr17:78514452..81041938 [GRCh37]
Chr17:17q25.3		 pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:80558676-81041938)x1 copy number loss See cases [RCV000510913] Chr17:80558676..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_004514.4(FOXK2):c.1612A>G (p.Thr538Ala) single nucleotide variant Inborn genetic diseases [RCV003242599] Chr17:82587098 [GRCh38]
Chr17:80544974 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:80489175-81041938)x1 copy number loss not provided [RCV000683968] Chr17:80489175..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80555321-81041938)x1 copy number loss not provided [RCV000683969] Chr17:80555321..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:80544855-80584051)x3 copy number gain not provided [RCV000739712] Chr17:80544855..80584051 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:80544855-81060000)x1 copy number loss not provided [RCV000739713] Chr17:80544855..81060000 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:79828248-81057996)x1 copy number loss not provided [RCV000752233] Chr17:79828248..81057996 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_004514.4(FOXK2):c.1644G>A (p.Thr548=) single nucleotide variant not provided [RCV000900684] Chr17:82587130 [GRCh38]
Chr17:80545006 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_004514.4(FOXK2):c.58GCCGGGGGCGGCGGG[1] (p.20AGGGG[1]) microsatellite not provided [RCV000950005] Chr17:82519936..82519950 [GRCh38]
Chr17:80477812..80477826 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.1899G>C (p.Lys633Asn) single nucleotide variant not provided [RCV000892198] Chr17:82601415 [GRCh38]
Chr17:80559291 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.419+7G>T single nucleotide variant not provided [RCV000966468] Chr17:82520314 [GRCh38]
Chr17:80478190 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.1518C>T (p.Ala506=) single nucleotide variant not provided [RCV000959463] Chr17:82586142 [GRCh38]
Chr17:80544018 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1668G>A (p.Thr556=) single nucleotide variant not provided [RCV000899830] Chr17:82587154 [GRCh38]
Chr17:80545030 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.228C>T (p.Ser76=) single nucleotide variant not provided [RCV000883499] Chr17:82520116 [GRCh38]
Chr17:80477992 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1110C>T (p.Ala370=) single nucleotide variant not provided [RCV000915491] Chr17:82584019 [GRCh38]
Chr17:80541895 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.75C>A (p.Ala25=) single nucleotide variant not provided [RCV000980952] Chr17:82519963 [GRCh38]
Chr17:80477839 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.1576+3A>G single nucleotide variant not provided [RCV000882931] Chr17:82586203 [GRCh38]
Chr17:80544079 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1576+8dup duplication not provided [RCV000882932] Chr17:82586206..82586207 [GRCh38]
Chr17:80544082..80544083 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1436C>T (p.Ala479Val) single nucleotide variant Premature ovarian insufficiency [RCV000766178]|not provided [RCV000897615] Chr17:82586060 [GRCh38]
Chr17:80543936 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_004514.4(FOXK2):c.875A>T (p.Tyr292Phe) single nucleotide variant Inborn genetic diseases [RCV003269634] Chr17:82571836 [GRCh38]
Chr17:80529712 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1576+9A>G single nucleotide variant not provided [RCV000971071] Chr17:82586209 [GRCh38]
Chr17:80544085 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.1164G>A (p.Gln388=) single nucleotide variant not provided [RCV000980994] Chr17:82584073 [GRCh38]
Chr17:80541949 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.1506C>A (p.Val502=) single nucleotide variant not provided [RCV000879331] Chr17:82586130 [GRCh38]
Chr17:80544006 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.1569_1576+40del deletion not provided [RCV000879359] Chr17:82586179..82586226 [GRCh38]
Chr17:80544055..80544102 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.1515A>T (p.Ala505=) single nucleotide variant not provided [RCV000906187] Chr17:82586139 [GRCh38]
Chr17:80544015 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1874A>C (p.Glu625Ala) single nucleotide variant not provided [RCV000909838] Chr17:82601390 [GRCh38]
Chr17:80559266 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1353C>T (p.Thr451=) single nucleotide variant not provided [RCV000919589] Chr17:82585977 [GRCh38]
Chr17:80543853 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.154C>T (p.Arg52Cys) single nucleotide variant Premature ovarian insufficiency [RCV000766179]|not provided [RCV000960187] Chr17:82520042 [GRCh38]
Chr17:80477918 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_004514.4(FOXK2):c.1419C>T (p.Val473=) single nucleotide variant not provided [RCV000960304] Chr17:82586043 [GRCh38]
Chr17:80543919 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1472C>T (p.Ala491Val) single nucleotide variant not provided [RCV000960305] Chr17:82586096 [GRCh38]
Chr17:80543972 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:80488965-81041938)x1 copy number loss not provided [RCV000849198] Chr17:80488965..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3 copy number gain not provided [RCV000848418] Chr17:78608912..81041938 [GRCh37]
Chr17:17q25.3		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_004514.4(FOXK2):c.1576+44_1576+93del deletion not provided [RCV000949409] Chr17:82586210..82586259 [GRCh38]
Chr17:80544086..80544135 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.846C>T (p.Asn282=) single nucleotide variant not provided [RCV000905016] Chr17:82571807 [GRCh38]
Chr17:80529683 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1512G>A (p.Pro504=) single nucleotide variant not provided [RCV000903010] Chr17:82586136 [GRCh38]
Chr17:80544012 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1569_1576+90del deletion not provided [RCV000896349] Chr17:82586179..82586276 [GRCh38]
Chr17:80544055..80544152 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.777G>T (p.Pro259=) single nucleotide variant not provided [RCV000890283] Chr17:82571738 [GRCh38]
Chr17:80529614 [GRCh37]
Chr17:17q25.3		 benign
NM_004514.4(FOXK2):c.1786+9T>G single nucleotide variant not provided [RCV000911623] Chr17:82587281 [GRCh38]
Chr17:80545157 [GRCh37]
Chr17:17q25.3		 likely benign
GRCh37/hg19 17q25.3(chr17:80544251-81152210)x1 copy number loss not provided [RCV001270664] Chr17:80544251..81152210 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82586979-83257441)x1 copy number loss See cases [RCV001420499] Chr17:82586979..83257441 [GRCh38]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1576+55_1576+201del deletion not provided [RCV001484218] Chr17:82586194..82586340 [GRCh38]
Chr17:80544070..80544216 [GRCh37]
Chr17:17q25.3		 likely benign
GRCh37/hg19 17q25.3(chr17:80396464-80698039)x3 copy number gain not provided [RCV001834165] Chr17:80396464..80698039 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:79976464-81041938) copy number loss not specified [RCV002052608] Chr17:79976464..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80555363-81041938)x1 copy number loss not provided [RCV001834268] Chr17:80555363..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_79477716)_(80900339_?)dup duplication not provided [RCV003122586] Chr17:79477716..80900339 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_80332201)_(80758892_?)dup duplication not provided [RCV003122337] Chr17:80332201..80758892 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3 copy number gain Isolated anorectal malformation [RCV002286611] Chr17:80509676..81162701 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_004514.4(FOXK2):c.298C>T (p.Pro100Ser) single nucleotide variant Inborn genetic diseases [RCV003253776] Chr17:82520186 [GRCh38]
Chr17:80478062 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1216C>A (p.Pro406Thr) single nucleotide variant Inborn genetic diseases [RCV002836991] Chr17:82584125 [GRCh38]
Chr17:80542001 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.448A>G (p.Ile150Val) single nucleotide variant Inborn genetic diseases [RCV002777240] Chr17:82563382 [GRCh38]
Chr17:80521258 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.59C>T (p.Ala20Val) single nucleotide variant Inborn genetic diseases [RCV002945864] Chr17:82519947 [GRCh38]
Chr17:80477823 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1588C>G (p.Pro530Ala) single nucleotide variant Inborn genetic diseases [RCV002861041] Chr17:82587074 [GRCh38]
Chr17:80544950 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.13G>C (p.Ala5Pro) single nucleotide variant Inborn genetic diseases [RCV002969753] Chr17:82519901 [GRCh38]
Chr17:80477777 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1973T>A (p.Val658Asp) single nucleotide variant Inborn genetic diseases [RCV002865674] Chr17:82601489 [GRCh38]
Chr17:80559365 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1511C>A (p.Pro504Gln) single nucleotide variant Inborn genetic diseases [RCV002793568] Chr17:82586135 [GRCh38]
Chr17:80544011 [GRCh37]
Chr17:17q25.3		 likely benign
NM_004514.4(FOXK2):c.1496A>G (p.Gln499Arg) single nucleotide variant Inborn genetic diseases [RCV002732324] Chr17:82586120 [GRCh38]
Chr17:80543996 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1459G>A (p.Gly487Arg) single nucleotide variant Inborn genetic diseases [RCV002774382] Chr17:82586083 [GRCh38]
Chr17:80543959 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.458C>T (p.Thr153Met) single nucleotide variant Inborn genetic diseases [RCV002882929] Chr17:82563392 [GRCh38]
Chr17:80521268 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.53G>T (p.Gly18Val) single nucleotide variant Inborn genetic diseases [RCV002753891] Chr17:82519941 [GRCh38]
Chr17:80477817 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1382C>T (p.Ser461Leu) single nucleotide variant Inborn genetic diseases [RCV002969862] Chr17:82586006 [GRCh38]
Chr17:80543882 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1808T>C (p.Met603Thr) single nucleotide variant Inborn genetic diseases [RCV002992633] Chr17:82601324 [GRCh38]
Chr17:80559200 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1486G>A (p.Val496Ile) single nucleotide variant Inborn genetic diseases [RCV002707865] Chr17:82586110 [GRCh38]
Chr17:80543986 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1375A>G (p.Thr459Ala) single nucleotide variant Inborn genetic diseases [RCV002703683] Chr17:82585999 [GRCh38]
Chr17:80543875 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1445T>A (p.Val482Asp) single nucleotide variant Inborn genetic diseases [RCV002707000] Chr17:82586069 [GRCh38]
Chr17:80543945 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1676T>C (p.Ile559Thr) single nucleotide variant Inborn genetic diseases [RCV002986696] Chr17:82587162 [GRCh38]
Chr17:80545038 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1771G>A (p.Gly591Ser) single nucleotide variant Inborn genetic diseases [RCV002956725] Chr17:82587257 [GRCh38]
Chr17:80545133 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1537G>A (p.Ala513Thr) single nucleotide variant Inborn genetic diseases [RCV002742724] Chr17:82586161 [GRCh38]
Chr17:80544037 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1438G>A (p.Val480Met) single nucleotide variant Inborn genetic diseases [RCV002698531] Chr17:82586062 [GRCh38]
Chr17:80543938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.7G>T (p.Ala3Ser) single nucleotide variant Inborn genetic diseases [RCV002641153] Chr17:82519895 [GRCh38]
Chr17:80477771 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1861G>A (p.Gly621Ser) single nucleotide variant Inborn genetic diseases [RCV002641419] Chr17:82601377 [GRCh38]
Chr17:80559253 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.44C>T (p.Pro15Leu) single nucleotide variant Inborn genetic diseases [RCV002891994] Chr17:82519932 [GRCh38]
Chr17:80477808 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.493C>G (p.Gln165Glu) single nucleotide variant Inborn genetic diseases [RCV002804259] Chr17:82563427 [GRCh38]
Chr17:80521303 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1625C>G (p.Ala542Gly) single nucleotide variant Inborn genetic diseases [RCV002959705] Chr17:82587111 [GRCh38]
Chr17:80544987 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1416C>G (p.His472Gln) single nucleotide variant Inborn genetic diseases [RCV002669804] Chr17:82586040 [GRCh38]
Chr17:80543916 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1946C>T (p.Pro649Leu) single nucleotide variant Inborn genetic diseases [RCV002944719] Chr17:82601462 [GRCh38]
Chr17:80559338 [GRCh37]
Chr17:17q25.3		 uncertain significance
Single allele deletion See cases [RCV003154621] Chr17:79539041..81052322 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_004514.4(FOXK2):c.899A>G (p.Lys300Arg) single nucleotide variant Inborn genetic diseases [RCV003198288] Chr17:82571860 [GRCh38]
Chr17:80529736 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82004063-83087346) copy number loss Anomalous pulmonary venous return [RCV003223589] Chr17:82004063..83087346 [GRCh38]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1732A>C (p.Asn578His) single nucleotide variant Inborn genetic diseases [RCV003198921] Chr17:82587218 [GRCh38]
Chr17:80545094 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1393C>T (p.Pro465Ser) single nucleotide variant Inborn genetic diseases [RCV003259346] Chr17:82586017 [GRCh38]
Chr17:80543893 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.815C>T (p.Thr272Met) single nucleotide variant Inborn genetic diseases [RCV003186452] Chr17:82571776 [GRCh38]
Chr17:80529652 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1543G>T (p.Ala515Ser) single nucleotide variant Inborn genetic diseases [RCV003174609] Chr17:82586167 [GRCh38]
Chr17:80544043 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1772G>C (p.Gly591Ala) single nucleotide variant Inborn genetic diseases [RCV003302326] Chr17:82587258 [GRCh38]
Chr17:80545134 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1299G>T (p.Gln433His) single nucleotide variant Inborn genetic diseases [RCV003210090] Chr17:82585923 [GRCh38]
Chr17:80543799 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.323G>A (p.Gly108Asp) single nucleotide variant Inborn genetic diseases [RCV003177906] Chr17:82520211 [GRCh38]
Chr17:80478087 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.65G>A (p.Gly22Asp) single nucleotide variant Inborn genetic diseases [RCV003341178] Chr17:82519953 [GRCh38]
Chr17:80477829 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1652C>G (p.Thr551Ser) single nucleotide variant Inborn genetic diseases [RCV003353475] Chr17:82587138 [GRCh38]
Chr17:80545014 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1498G>C (p.Ala500Pro) single nucleotide variant Inborn genetic diseases [RCV003371043] Chr17:82586122 [GRCh38]
Chr17:80543998 [GRCh37]
Chr17:17q25.3		 uncertain significance
Single allele duplication not provided [RCV003448687] Chr17:79928042..81152120 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_004514.4(FOXK2):c.1572C>G (p.Val524=) single nucleotide variant not provided [RCV003885646] Chr17:82586196 [GRCh38]
Chr17:80544072 [GRCh37]
Chr17:17q25.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4017
Count of miRNA genes:1298
Interacting mature miRNAs:1672
Transcripts:ENST00000335255, ENST00000473637, ENST00000526383, ENST00000527313, ENST00000529652, ENST00000531030, ENST00000570585, ENST00000571160, ENST00000571989, ENST00000574694, ENST00000575578
Prediction methods:Microtar, 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.

Markers in Region
RH102248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,561,862 - 80,562,018UniSTSGRCh37
Build 361778,155,151 - 78,155,307RGDNCBI36
Celera1777,156,167 - 77,156,323RGD
Cytogenetic Map17q25UniSTS
HuRef1775,962,260 - 75,962,416UniSTS
GeneMap99-GB4 RH Map17541.38UniSTS
SHGC-33383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,533,448 - 80,533,598UniSTSGRCh37
GRCh371657,286,689 - 57,286,838UniSTSGRCh37
Build 361655,844,190 - 55,844,339RGDNCBI36
Celera1641,786,377 - 41,786,526RGD
Celera1777,124,195 - 77,124,345UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q13UniSTS
HuRef1775,930,782 - 75,930,932UniSTS
HuRef1643,156,329 - 43,156,478UniSTS
TNG Radiation Hybrid Map1623552.0UniSTS
RH79162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,560,022 - 80,560,178UniSTSGRCh37
Build 361778,153,311 - 78,153,467RGDNCBI36
Celera1777,154,328 - 77,154,484RGD
Cytogenetic Map17q25UniSTS
HuRef1775,960,423 - 75,960,579UniSTS
GeneMap99-GB4 RH Map17541.38UniSTS
NCBI RH Map17810.0UniSTS
FOXK2_2224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,559,526 - 80,560,308UniSTSGRCh37
Build 361778,152,815 - 78,153,597RGDNCBI36
Celera1777,153,832 - 77,154,614RGD
HuRef1775,959,927 - 75,960,709UniSTS
D17S1282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,506,871 - 80,507,020UniSTSGRCh37
Build 361778,100,160 - 78,100,309RGDNCBI36
Celera1777,097,547 - 77,097,696RGD
Cytogenetic Map17q25UniSTS
HuRef1775,904,300 - 75,904,449UniSTS
RH44904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,485,963 - 80,486,068UniSTSGRCh37
Build 361778,079,252 - 78,079,357RGDNCBI36
Celera1777,076,643 - 77,076,748RGD
Cytogenetic Map17q25UniSTS
HuRef1775,883,529 - 75,883,634UniSTS
GeneMap99-GB4 RH Map17541.38UniSTS
NCBI RH Map17810.0UniSTS
A005V25  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,560,160 - 80,560,276UniSTSGRCh37
Build 361778,153,449 - 78,153,565RGDNCBI36
Celera1777,154,466 - 77,154,582RGD
Cytogenetic Map17q25UniSTS
HuRef1775,960,561 - 75,960,677UniSTS
GeneMap99-GB4 RH Map17541.38UniSTS
NCBI RH Map17810.0UniSTS
G34945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,560,160 - 80,560,276UniSTSGRCh37
Celera1777,154,466 - 77,154,582UniSTS
Cytogenetic Map17q25UniSTS
HuRef1775,960,561 - 75,960,677UniSTS
RH69204  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
GeneMap99-GB4 RH Map17542.2UniSTS
NCBI RH Map17810.0UniSTS


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 1913 1437 1297 212 1043 110 4101 1530 2017 215 1442 1588 119 1 966 2605 5 2
Low 526 1548 429 412 902 355 256 667 1717 204 18 25 56 238 183 1
Below cutoff 6 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_933935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA889932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335255   ⟹   ENSP00000335677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,519,732 - 82,604,602 (+)Ensembl
RefSeq Acc Id: ENST00000473637   ⟹   ENSP00000436108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,519,713 - 82,602,392 (+)Ensembl
RefSeq Acc Id: ENST00000526383   ⟹   ENSP00000432663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,559,364 - 82,584,030 (+)Ensembl
RefSeq Acc Id: ENST00000527313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,519,977 - 82,571,976 (+)Ensembl
RefSeq Acc Id: ENST00000529652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,593,422 - 82,602,405 (+)Ensembl
RefSeq Acc Id: ENST00000531030   ⟹   ENSP00000433167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,559,340 - 82,582,914 (+)Ensembl
RefSeq Acc Id: ENST00000570585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,520,294 - 82,572,122 (+)Ensembl
RefSeq Acc Id: ENST00000571160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,582,775 - 82,586,043 (+)Ensembl
RefSeq Acc Id: ENST00000571989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,593,400 - 82,601,530 (+)Ensembl
RefSeq Acc Id: ENST00000574694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,603,637 - 82,644,662 (+)Ensembl
RefSeq Acc Id: ENST00000575578   ⟹   ENSP00000461540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,586,130 - 82,587,562 (+)Ensembl
RefSeq Acc Id: ENST00000624186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,598,939 - 82,603,182 (+)Ensembl
RefSeq Acc Id: NM_004514   ⟹   NP_004505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,519,732 - 82,604,602 (+)NCBI
GRCh371780,477,594 - 80,562,483 (+)ENTREZGENE
Build 361778,070,883 - 78,155,772 (+)NCBI Archive
HuRef1775,853,028 - 75,962,881 (+)ENTREZGENE
CHM1_11780,541,303 - 80,648,238 (+)NCBI
T2T-CHM13v2.01783,388,689 - 83,478,590 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435919   ⟹   XP_047291875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,519,732 - 82,596,184 (+)NCBI
RefSeq Acc Id: XM_047435920   ⟹   XP_047291876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,519,732 - 82,586,048 (+)NCBI
RefSeq Acc Id: XM_054315955   ⟹   XP_054171930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,388,689 - 83,470,111 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_004505   ⟸   NM_004514
- UniProtKB: Q13623 (UniProtKB/Swiss-Prot),   Q13622 (UniProtKB/Swiss-Prot),   A6NEP5 (UniProtKB/Swiss-Prot),   Q13624 (UniProtKB/Swiss-Prot),   Q01167 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000335677   ⟸   ENST00000335255
RefSeq Acc Id: ENSP00000433167   ⟸   ENST00000531030
RefSeq Acc Id: ENSP00000461540   ⟸   ENST00000575578
RefSeq Acc Id: ENSP00000432663   ⟸   ENST00000526383
RefSeq Acc Id: ENSP00000436108   ⟸   ENST00000473637
RefSeq Acc Id: XP_047291875   ⟸   XM_047435919
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047291876   ⟸   XM_047435920
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054171930   ⟸   XM_054315955
- Peptide Label: isoform X1
Protein Domains
FHA   Fork-head

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q01167-F1-model_v2 AlphaFold Q01167 1-660 view protein structure

Promoters
RGD ID:6794026
Promoter ID:HG_KWN:27443
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:ENST00000335241,   OTTHUMT00000277099,   OTTHUMT00000277100,   UC002KFM.1,   UC010DIU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361778,070,456 - 78,071,282 (+)MPROMDB
RGD ID:6794163
Promoter ID:HG_KWN:27444
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:UC002KFO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361778,144,644 - 78,145,144 (+)MPROMDB
RGD ID:7236769
Promoter ID:EPDNEW_H24130
Type:initiation region
Name:FOXK2_1
Description:forkhead box K2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24128  EPDNEW_H24129  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,519,732 - 82,519,792EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6036 AgrOrtholog
COSMIC FOXK2 COSMIC
Ensembl Genes ENSG00000141568 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000335255 ENTREZGENE
  ENST00000335255.10 UniProtKB/Swiss-Prot
  ENST00000473637 ENTREZGENE
  ENST00000473637.6 UniProtKB/Swiss-Prot
  ENST00000526383.2 UniProtKB/TrEMBL
  ENST00000531030.5 UniProtKB/TrEMBL
  ENST00000575578.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.200.20 UniProtKB/Swiss-Prot
GTEx ENSG00000141568 GTEx
HGNC ID HGNC:6036 ENTREZGENE
Human Proteome Map FOXK2 Human Proteome Map
InterPro FH_FOXK2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FHA_dom UniProtKB/Swiss-Prot
  FHA_FOXK2 UniProtKB/Swiss-Prot
  Fork_head_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot
  TF_fork_head_CS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3607 UniProtKB/Swiss-Prot
NCBI Gene 3607 ENTREZGENE
OMIM 147685 OMIM
PANTHER CHECKPOINT SUPPRESSOR 1-LIKE, ISOFORM A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORKHEAD BOX PROTEIN K2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FHA UniProtKB/Swiss-Prot
  Forkhead UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29851 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FHA_DOMAIN UniProtKB/Swiss-Prot
  FORK_HEAD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FHA UniProtKB/Swiss-Prot
  SM00339 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49879 UniProtKB/Swiss-Prot
UniProt A6NEP5 ENTREZGENE
  E9PM37_HUMAN UniProtKB/TrEMBL
  E9PPI7_HUMAN UniProtKB/TrEMBL
  FOXK2_HUMAN UniProtKB/Swiss-Prot
  I3L4U8_HUMAN UniProtKB/TrEMBL
  Q01167 ENTREZGENE
  Q13622 ENTREZGENE
  Q13623 ENTREZGENE
  Q13624 ENTREZGENE
UniProt Secondary A6NEP5 UniProtKB/Swiss-Prot
  Q13622 UniProtKB/Swiss-Prot
  Q13623 UniProtKB/Swiss-Prot
  Q13624 UniProtKB/Swiss-Prot