FGF13 (fibroblast growth factor 13) - Rat Genome Database

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Gene: FGF13 (fibroblast growth factor 13) Homo sapiens
Analyze
Symbol: FGF13
Name: fibroblast growth factor 13
RGD ID: 733500
HGNC Page HGNC
Description: Exhibits protein kinase activator activity and sodium channel regulator activity. Involved in MAPK cascade. Localizes to cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DEE90; FGF-13; FGF2; FHF-2; FHF2; fibroblast growth factor homologous factor 2; FLJ30672; LINC00889; long intergenic non-protein coding RNA 889
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
GRCh38.p13 EnsemblX138,614,727 - 139,222,777 (-)EnsemblGRCh38hg38GRCh38
GRCh38X138,614,727 - 139,222,889 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X137,696,888 - 138,287,185 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X137,541,401 - 137,649,181 (-)NCBINCBI36hg18NCBI36
Build 34X137,439,254 - 137,547,035NCBI
CeleraX138,079,723 - 138,653,021 (-)NCBI
Cytogenetic MapXq26.3-q27.1NCBI
HuRefX126,980,049 - 127,553,217 (-)NCBIHuRef
CHM1_1X137,624,856 - 138,198,651 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (ISS)
cytoplasm  (IBA,IEA,IPI,ISS)
cytosol  (IDA)
dendrite  (IEA,ISS)
extracellular region  (IEA)
filopodium  (IEA,ISS)
growth cone  (IEA,ISS)
intercalated disc  (ISS)
lateral plasma membrane  (ISS)
microtubule  (IEA,ISS)
neuron projection  (ISS)
nucleolus  (IEA)
nucleus  (IBA,IDA,IEA,ISS)
plasma membrane  (ISS)

Molecular Function

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

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:8790420   PMID:9751161   PMID:9847253   PMID:9914447   PMID:10071193   PMID:10644718   PMID:11181995   PMID:11847221   PMID:12244047   PMID:12477932   PMID:12496262   PMID:14702039  
PMID:15199049   PMID:15282281   PMID:15489334   PMID:16344560   PMID:18482256   PMID:21163940   PMID:21244100   PMID:21817159   PMID:21873635   PMID:23006423   PMID:23373430   PMID:23603273  
PMID:24113164   PMID:25814554   PMID:26063919   PMID:26392562   PMID:26891277   PMID:27246624   PMID:27503909   PMID:27810516   PMID:27916441   PMID:27994142   PMID:28162808   PMID:28611215  
PMID:28882890   PMID:29059154   PMID:29405966   PMID:30257687   PMID:30720165   PMID:31574782   PMID:31741433   PMID:31957002   PMID:32296183   PMID:33245860  


Genomics

Comparative Map Data
FGF13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX138,614,727 - 139,222,777 (-)EnsemblGRCh38hg38GRCh38
GRCh38X138,614,727 - 139,222,889 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X137,696,888 - 138,287,185 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X137,541,401 - 137,649,181 (-)NCBINCBI36hg18NCBI36
Build 34X137,439,254 - 137,547,035NCBI
CeleraX138,079,723 - 138,653,021 (-)NCBI
Cytogenetic MapXq26.3-q27.1NCBI
HuRefX126,980,049 - 127,553,217 (-)NCBIHuRef
CHM1_1X137,624,856 - 138,198,651 (-)NCBICHM1_1
Fgf13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X58,107,499 - 58,630,932 (-)NCBIGRCm39mm39
GRCm39 EnsemblX58,107,505 - 58,613,431 (-)Ensembl
GRCm38X59,062,139 - 59,585,572 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX59,062,145 - 59,568,071 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X56,315,327 - 56,387,613 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X55,408,934 - 55,481,220 (-)NCBImm8
CeleraX45,524,338 - 45,596,524 (-)NCBICelera
Cytogenetic MapXA6NCBI
cM MapX33.31NCBI
Fgf13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X137,276,498 - 137,800,056 (-)NCBI
Rnor_6.0 EnsemblX142,053,654 - 142,248,369 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X142,053,648 - 142,589,274 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X142,078,572 - 142,607,520 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X144,199,534 - 144,533,485 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X144,272,969 - 144,606,918 (-)NCBI
CeleraX133,376,309 - 133,487,079 (-)NCBICelera
Cytogenetic MapXq36NCBI
Fgf13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554896,122,707 - 6,621,624 (+)NCBIChiLan1.0ChiLan1.0
FGF13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X138,023,010 - 138,610,952 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X127,764,648 - 128,353,928 (-)NCBIMhudiblu_PPA_v0panPan3
FGF13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X108,658,113 - 109,156,096 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX108,658,941 - 109,156,594 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX94,485,065 - 95,008,516 (-)NCBI
ROS_Cfam_1.0X110,643,849 - 111,167,345 (-)NCBI
UMICH_Zoey_3.1X107,778,374 - 108,301,828 (-)NCBI
UNSW_CanFamBas_1.0X109,963,120 - 110,485,873 (-)NCBI
UU_Cfam_GSD_1.0X109,612,364 - 110,135,626 (-)NCBI
Fgf13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X106,703,626 - 107,193,786 (-)NCBI
SpeTri2.0NW_0049365138,419,588 - 8,911,010 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGF13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX113,460,191 - 113,932,715 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X113,460,191 - 113,955,691 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X129,613,586 - 129,689,377 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FGF13
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X113,683,688 - 114,256,728 (-)NCBI
ChlSab1.1 EnsemblX113,684,967 - 113,906,176 (-)Ensembl
Fgf13
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248087,577,422 - 8,091,216 (+)NCBI

Position Markers
DXS7530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,956,451 - 137,956,603UniSTSGRCh37
Build 36X137,784,117 - 137,784,269RGDNCBI36
CeleraX138,322,446 - 138,322,598RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,224,095 - 127,224,247UniSTS
DXS8363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,784,146 - 137,784,302UniSTSGRCh37
Build 36X137,611,812 - 137,611,968RGDNCBI36
CeleraX138,150,137 - 138,150,293RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,051,091 - 127,051,247UniSTS
AL031234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,834,216 - 137,834,296UniSTSGRCh37
Build 36X137,661,882 - 137,661,962RGDNCBI36
CeleraX138,200,205 - 138,200,285RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,101,863 - 127,101,943UniSTS
AL032577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,031,291 - 138,031,390UniSTSGRCh37
Build 36X137,858,957 - 137,859,056RGDNCBI36
CeleraX138,397,301 - 138,397,400RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,298,708 - 127,298,807UniSTS
G42851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,745,953 - 137,746,519UniSTSGRCh37
Build 36X137,573,619 - 137,574,185RGDNCBI36
CeleraX138,111,944 - 138,112,510RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,012,275 - 127,012,841UniSTS
G42887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,836,232 - 137,837,227UniSTSGRCh37
Build 36X137,663,898 - 137,664,893RGDNCBI36
CeleraX138,202,221 - 138,203,216RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,103,879 - 127,104,874UniSTS
G42890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,234,577 - 138,235,560UniSTSGRCh37
Build 36X138,062,243 - 138,063,226RGDNCBI36
CeleraX138,600,403 - 138,601,387RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,500,886 - 127,501,870UniSTS
sWXD1493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,826,383 - 137,826,762UniSTSGRCh37
Build 36X137,654,049 - 137,654,428RGDNCBI36
CeleraX138,192,372 - 138,192,751RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,094,028 - 127,094,407UniSTS
DXS730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,831,458 - 137,831,655UniSTSGRCh37
Build 36X137,659,124 - 137,659,321RGDNCBI36
CeleraX138,197,447 - 138,197,644RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,099,103 - 127,099,302UniSTS
DXS8213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,731,937 - 137,732,014UniSTSGRCh37
Build 36X137,559,603 - 137,559,680RGDNCBI36
CeleraX138,097,926 - 138,098,003RGD
Cytogenetic MapXq26.3UniSTS
HuRefX126,998,254 - 126,998,331UniSTS
sWXD1492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,005,426 - 138,005,823UniSTSGRCh37
Build 36X137,833,092 - 137,833,489RGDNCBI36
CeleraX138,371,428 - 138,371,825RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,272,849 - 127,273,246UniSTS
G66662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,796,128 - 137,797,083UniSTSGRCh37
Build 36X137,623,794 - 137,624,749RGDNCBI36
CeleraX138,162,118 - 138,163,073RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,063,704 - 127,064,659UniSTS
G66751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,222,836 - 138,223,825UniSTSGRCh37
Build 36X138,050,502 - 138,051,491RGDNCBI36
CeleraX138,588,662 - 138,589,651RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,489,149 - 127,490,134UniSTS
G66658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,931,189 - 137,931,942UniSTSGRCh37
Build 36X137,758,855 - 137,759,608RGDNCBI36
CeleraX138,297,180 - 138,297,933RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,198,738 - 127,199,491UniSTS
G67207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,225,681 - 138,226,617UniSTSGRCh37
Build 36X138,053,347 - 138,054,283RGDNCBI36
CeleraX138,591,507 - 138,592,443RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,491,990 - 127,492,926UniSTS
FGF13_30.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,713,691 - 137,714,455UniSTSGRCh37
Build 36X137,541,357 - 137,542,121RGDNCBI36
CeleraX138,079,680 - 138,080,444RGD
HuRefX126,980,006 - 126,980,770UniSTS
WI-11452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,979,498 - 137,979,622UniSTSGRCh37
Build 36X137,807,164 - 137,807,288RGDNCBI36
CeleraX138,345,495 - 138,345,619RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,246,730 - 127,246,854UniSTS
GeneMap99-GB4 RH MapX323.16UniSTS
Whitehead-RH MapX300.0UniSTS
AL031248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,994,931 - 137,995,101UniSTSGRCh37
Build 36X137,822,597 - 137,822,767RGDNCBI36
CeleraX138,360,931 - 138,361,101RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,262,409 - 127,262,579UniSTS
L77817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,740,089 - 137,740,216UniSTSGRCh37
Build 36X137,567,755 - 137,567,882RGDNCBI36
CeleraX138,106,079 - 138,106,206RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,006,410 - 127,006,537UniSTS
STS-Z40861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,713,847 - 137,713,938UniSTSGRCh37
Build 36X137,541,513 - 137,541,604RGDNCBI36
CeleraX138,079,836 - 138,079,927RGD
Cytogenetic MapXq26.3UniSTS
HuRefX126,980,162 - 126,980,253UniSTS
GeneMap99-GB4 RH MapX321.03UniSTS
AL021594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,222,347 - 138,222,493UniSTSGRCh37
Build 36X138,050,013 - 138,050,159RGDNCBI36
CeleraX138,588,173 - 138,588,319RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,488,660 - 127,488,806UniSTS
GDB:313863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,995,694 - 137,996,082UniSTSGRCh37
Build 36X137,823,360 - 137,823,748RGDNCBI36
CeleraX138,361,695 - 138,362,083RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,263,171 - 127,263,563UniSTS
DXS7768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,766,068 - 137,766,216UniSTSGRCh37
Build 36X137,593,734 - 137,593,882RGDNCBI36
CeleraX138,132,059 - 138,132,207RGD
Cytogenetic MapXq26.3UniSTS
HuRefX127,032,579 - 127,032,727UniSTS
DXS7444E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,714,518 - 137,714,607UniSTSGRCh37
Build 36X137,542,184 - 137,542,273RGDNCBI36
CeleraX138,080,507 - 138,080,596RGD
Cytogenetic MapXq26.3UniSTS
HuRefX126,980,833 - 126,980,922UniSTS
GeneMap99-GB4 RH MapX323.06UniSTS
WI-19784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X137,713,818 - 137,714,071UniSTSGRCh37
Build 36X137,541,484 - 137,541,737RGDNCBI36
CeleraX138,079,807 - 138,080,060RGD
Cytogenetic MapXq26.3UniSTS
HuRefX126,980,133 - 126,980,386UniSTS
GeneMap99-GB4 RH MapX320.61UniSTS
Whitehead-RH MapX301.2UniSTS
G54805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,231,051 - 138,232,047UniSTSGRCh37
CeleraX138,596,877 - 138,597,873UniSTS
Cytogenetic MapXq26.3UniSTS
HuRefX127,497,360 - 127,498,356UniSTS
G54813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,007,181 - 138,008,106UniSTSGRCh37
CeleraX138,373,182 - 138,374,112UniSTS
Cytogenetic MapXq26.3UniSTS
HuRefX127,274,603 - 127,275,528UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3566
Count of miRNA genes:1082
Interacting mature miRNAs:1304
Transcripts:ENST00000305414, ENST00000315930, ENST00000370603, ENST00000421460, ENST00000436198, ENST00000441825, ENST00000448673, ENST00000455663, ENST00000541469
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 5 4 25 19 7 19 65 10 508 40 49 31 1
Low 1842 1553 1008 280 643 143 3126 1684 2490 289 1031 1060 140 1 1153 2191 5
Below cutoff 570 1427 687 317 853 296 1164 500 734 86 369 509 34 51 596 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001139498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001139500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001139501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001139502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF100143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF108756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF199612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF199613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY672645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG179556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ068644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU195176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS173331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA392242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC362132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z81007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000305414   ⟹   ENSP00000303391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX138,631,574 - 138,739,353 (-)Ensembl
RefSeq Acc Id: ENST00000315930   ⟹   ENSP00000322390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX138,614,727 - 138,711,717 (-)Ensembl
RefSeq Acc Id: ENST00000421460   ⟹   ENSP00000388688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX138,857,512 - 139,203,525 (-)Ensembl
RefSeq Acc Id: ENST00000436198   ⟹   ENSP00000396198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX138,632,703 - 139,205,006 (-)Ensembl
RefSeq Acc Id: ENST00000441825   ⟹   ENSP00000409276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX138,632,271 - 139,204,275 (-)Ensembl
RefSeq Acc Id: ENST00000448673   ⟹   ENSP00000411999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX138,708,852 - 139,222,777 (-)Ensembl
RefSeq Acc Id: ENST00000455663   ⟹   ENSP00000406916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX138,635,486 - 138,990,567 (-)Ensembl
RefSeq Acc Id: ENST00000626909   ⟹   ENSP00000487411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX138,632,678 - 139,205,023 (-)Ensembl
RefSeq Acc Id: NM_001139498   ⟹   NP_001132970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X138,614,727 - 139,205,023 (-)NCBI
GRCh37X137,713,734 - 138,305,051 (-)NCBI
HuRefX126,980,049 - 127,553,217 (-)ENTREZGENE
CHM1_1X137,624,856 - 138,198,651 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001139500   ⟹   NP_001132972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X138,614,727 - 139,205,023 (-)NCBI
GRCh37X137,713,734 - 138,305,051 (-)NCBI
HuRefX126,980,049 - 127,553,217 (-)ENTREZGENE
CHM1_1X137,624,856 - 138,198,651 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001139501   ⟹   NP_001132973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X138,614,727 - 139,205,023 (-)NCBI
GRCh37X137,713,734 - 138,305,051 (-)NCBI
HuRefX126,980,049 - 127,553,217 (-)ENTREZGENE
CHM1_1X137,624,856 - 138,198,651 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001139502   ⟹   NP_001132974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X138,614,727 - 138,867,555 (-)NCBI
GRCh37X137,713,734 - 138,305,051 (-)NCBI
HuRefX126,980,049 - 127,553,217 (-)ENTREZGENE
CHM1_1X137,624,856 - 137,860,842 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004114   ⟹   NP_004105
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X138,614,727 - 138,711,717 (-)NCBI
GRCh37X137,713,734 - 138,305,051 (-)NCBI
Build 36X137,541,401 - 137,621,493 (-)NCBI Archive
HuRefX126,980,049 - 127,553,217 (-)ENTREZGENE
CHM1_1X137,624,856 - 137,704,943 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033642   ⟹   NP_378668
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X138,614,727 - 138,739,353 (-)NCBI
GRCh37X137,713,734 - 138,305,051 (-)NCBI
Build 36X137,541,401 - 137,649,181 (-)NCBI Archive
HuRefX126,980,049 - 127,553,217 (-)ENTREZGENE
CHM1_1X137,624,856 - 137,732,644 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262399   ⟹   XP_005262456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X138,631,573 - 139,222,889 (-)NCBI
GRCh37X137,713,734 - 138,305,051 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452352   ⟹   XP_024308120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X138,631,573 - 139,222,870 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001132970 (Get FASTA)   NCBI Sequence Viewer  
  NP_001132972 (Get FASTA)   NCBI Sequence Viewer  
  NP_001132973 (Get FASTA)   NCBI Sequence Viewer  
  NP_001132974 (Get FASTA)   NCBI Sequence Viewer  
  NP_004105 (Get FASTA)   NCBI Sequence Viewer  
  NP_378668 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262456 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308120 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB18914 (Get FASTA)   NCBI Sequence Viewer  
  AAD16400 (Get FASTA)   NCBI Sequence Viewer  
  AAD16401 (Get FASTA)   NCBI Sequence Viewer  
  AAD21577 (Get FASTA)   NCBI Sequence Viewer  
  AAF31399 (Get FASTA)   NCBI Sequence Viewer  
  AAF31400 (Get FASTA)   NCBI Sequence Viewer  
  AAH12347 (Get FASTA)   NCBI Sequence Viewer  
  AAH34340 (Get FASTA)   NCBI Sequence Viewer  
  AAT70720 (Get FASTA)   NCBI Sequence Viewer  
  BAB70883 (Get FASTA)   NCBI Sequence Viewer  
  BAB70911 (Get FASTA)   NCBI Sequence Viewer  
  BAF82649 (Get FASTA)   NCBI Sequence Viewer  
  BAH12613 (Get FASTA)   NCBI Sequence Viewer  
  BAH14016 (Get FASTA)   NCBI Sequence Viewer  
  BAH14541 (Get FASTA)   NCBI Sequence Viewer  
  CAJ33717 (Get FASTA)   NCBI Sequence Viewer  
  EAW88435 (Get FASTA)   NCBI Sequence Viewer  
  EAW88436 (Get FASTA)   NCBI Sequence Viewer  
  EAW88437 (Get FASTA)   NCBI Sequence Viewer  
  EAW88438 (Get FASTA)   NCBI Sequence Viewer  
  EAW88439 (Get FASTA)   NCBI Sequence Viewer  
  EAW88440 (Get FASTA)   NCBI Sequence Viewer  
  EAW88443 (Get FASTA)   NCBI Sequence Viewer  
  Q92913 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001132970   ⟸   NM_001139498
- Peptide Label: isoform 4
- UniProtKB: Q92913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001132972   ⟸   NM_001139500
- Peptide Label: isoform 2
- UniProtKB: Q92913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001132973   ⟸   NM_001139501
- Peptide Label: isoform 3
- UniProtKB: Q92913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001132974   ⟸   NM_001139502
- Peptide Label: isoform 3
- UniProtKB: Q92913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004105   ⟸   NM_004114
- Peptide Label: isoform 1
- UniProtKB: Q92913 (UniProtKB/Swiss-Prot),   A8K1P5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_378668   ⟸   NM_033642
- Peptide Label: isoform 5
- UniProtKB: Q92913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262456   ⟸   XM_005262399
- Peptide Label: isoform X2
- UniProtKB: Q92913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308120   ⟸   XM_024452352
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000487411   ⟸   ENST00000626909
RefSeq Acc Id: ENSP00000409276   ⟸   ENST00000441825
RefSeq Acc Id: ENSP00000406916   ⟸   ENST00000455663
RefSeq Acc Id: ENSP00000322390   ⟸   ENST00000315930
RefSeq Acc Id: ENSP00000411999   ⟸   ENST00000448673
RefSeq Acc Id: ENSP00000388688   ⟸   ENST00000421460
RefSeq Acc Id: ENSP00000396198   ⟸   ENST00000436198
RefSeq Acc Id: ENSP00000303391   ⟸   ENST00000305414

Promoters
RGD ID:13628236
Promoter ID:EPDNEW_H29393
Type:initiation region
Name:FGF13_1
Description:fibroblast growth factor 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29394  EPDNEW_H29395  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X138,711,654 - 138,711,714EPDNEW
RGD ID:13628238
Promoter ID:EPDNEW_H29394
Type:single initiation site
Name:FGF13_2
Description:fibroblast growth factor 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29393  EPDNEW_H29395  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,169,225 - 139,169,285EPDNEW
RGD ID:13628242
Promoter ID:EPDNEW_H29395
Type:multiple initiation site
Name:FGF13_3
Description:fibroblast growth factor 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29393  EPDNEW_H29394  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,222,889 - 139,222,949EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004114.5(FGF13):c.41G>C (p.Arg14Thr) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 [RCV001292556] ChrX:138710963 [GRCh38]
ChrX:137793125 [GRCh37]
ChrX:Xq26.3
pathogenic
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 Xq26.3-27.1(chrX:138256775-139274578)x2 copy number gain See cases [RCV000051197] ChrX:138256775..139274578 [GRCh38]
ChrX:137338934..138356738 [GRCh37]
ChrX:137166600..138184404 [NCBI36]
ChrX:Xq26.3-27.1
uncertain significance
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
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 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
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 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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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: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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1
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-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 Xq27.1(chrX:139199307-139682289)x2 copy number gain See cases [RCV000054280] ChrX:139199307..139682289 [GRCh38]
ChrX:138281469..138764448 [GRCh37]
ChrX:138109135..138592114 [NCBI36]
ChrX:Xq27.1
uncertain significance
NM_001139498.1(FGF13):c.264+15560G>T single nucleotide variant Lung cancer [RCV000102371] ChrX:138687424 [GRCh38]
ChrX:137769585 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001139498.1(FGF13):c.50-181631A>T single nucleotide variant Lung cancer [RCV000102372] ChrX:138890559 [GRCh38]
ChrX:137972721 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001139498.1(FGF13):c.49+180209T>G single nucleotide variant Lung cancer [RCV000102373] ChrX:139023850 [GRCh38]
ChrX:138106012 [GRCh37]
ChrX:Xq27.1
uncertain significance
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
NM_004114.5(FGF13):c.31C>T (p.Arg11Cys) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 [RCV001292555] ChrX:138710973 [GRCh38]
ChrX:137793135 [GRCh37]
ChrX:Xq26.3
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: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: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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
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 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq26.3-27.1(chrX:138856521-139474149)x3 copy number gain See cases [RCV000142678] ChrX:138856521..139474149 [GRCh38]
ChrX:137938683..138556308 [GRCh37]
ChrX:137766349..138383974 [NCBI36]
ChrX:Xq26.3-27.1
uncertain significance
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
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 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
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
GRCh37/hg19 Xq27.1-28(chrX:138125974-147236414)x2 copy number gain See cases [RCV000167566] ChrX:138125974..147236414 [GRCh37]
ChrX:Xq27.1-28
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 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 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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 Xp22.33-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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
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 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
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
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
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 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq26.3-27.1(chrX:136399075-139504489)x1 copy number loss not provided [RCV000684394] ChrX:136399075..139504489 [GRCh37]
ChrX:Xq26.3-27.1
uncertain significance
GRCh37/hg19 Xq27.1(chrX:138126026-138891563)x2 copy number gain not provided [RCV000684395] ChrX:138126026..138891563 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138107101-138237994)x0 copy number loss not provided [RCV000753807] ChrX:138107101..138237994 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
Single allele duplication Autistic disorder of childhood onset [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
NM_004114.5(FGF13):c.693C>T (p.Gly231=) single nucleotide variant not provided [RCV000882583] ChrX:138632895 [GRCh38]
ChrX:137715056 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_004114.5(FGF13):c.688T>C (p.Ser230Pro) single nucleotide variant not provided [RCV000917442] ChrX:138632900 [GRCh38]
ChrX:137715061 [GRCh37]
ChrX:Xq26.3
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2 copy number gain not provided [RCV000849149] ChrX:138120235..147240344 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-27.1(chrX:137457338-138276345)x1 copy number loss not provided [RCV001007348] ChrX:137457338..138276345 [GRCh37]
ChrX:Xq26.3-27.1
uncertain significance
GRCh37/hg19 Xq26.3(chrX:137649748-137735864)x0 copy number loss not provided [RCV000849557] ChrX:137649748..137735864 [GRCh37]
ChrX:Xq26.3
uncertain significance
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq26.3-27.1(chrX:137939066-138117176)x0 copy number loss not provided [RCV001007349] ChrX:137939066..138117176 [GRCh37]
ChrX:Xq26.3-27.1
uncertain significance
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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004114.5(FGF13):c.159C>A (p.Gly53=) single nucleotide variant not provided [RCV000936511] ChrX:138710845 [GRCh38]
ChrX:137793007 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
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
NM_004114.5(FGF13):c.32G>C (p.Arg11Pro) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 [RCV001292557] ChrX:138710972 [GRCh38]
ChrX:137793134 [GRCh37]
ChrX:Xq26.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3670 AgrOrtholog
COSMIC FGF13 COSMIC
Ensembl Genes ENSG00000129682 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000303391 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000322390 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388688 UniProtKB/TrEMBL
  ENSP00000396198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406916 UniProtKB/TrEMBL
  ENSP00000409276 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411999 UniProtKB/TrEMBL
  ENSP00000487411 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305414 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000315930 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000421460 UniProtKB/TrEMBL
  ENST00000436198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000441825 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000448673 UniProtKB/TrEMBL
  ENST00000455663 UniProtKB/TrEMBL
  ENST00000626909 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000129682 GTEx
HGNC ID HGNC:3670 ENTREZGENE
Human Proteome Map FGF13 Human Proteome Map
InterPro FGF13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibroblast_GF_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL1/FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2258 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2258 ENTREZGENE
OMIM 300070 OMIM
  301058 OMIM
PANTHER PTHR11486 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11486:SF145 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11486:SF77 UniProtKB/TrEMBL
Pfam FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28109 PharmGKB
PRINTS HBGFFGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HBGF_FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DG13_HUMAN UniProtKB/TrEMBL
  A8K1P5 ENTREZGENE, UniProtKB/TrEMBL
  B1AJW0_HUMAN UniProtKB/TrEMBL
  B1B1H9_HUMAN UniProtKB/TrEMBL
  D3DWH3_HUMAN UniProtKB/TrEMBL
  FGF13_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9Y643_HUMAN UniProtKB/TrEMBL
UniProt Secondary B1AK18 UniProtKB/Swiss-Prot
  B7Z4M7 UniProtKB/Swiss-Prot
  B7Z8N0 UniProtKB/Swiss-Prot
  D3DWH4 UniProtKB/Swiss-Prot
  O95830 UniProtKB/Swiss-Prot
  Q9NZH9 UniProtKB/Swiss-Prot
  Q9NZI0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-23 FGF13  fibroblast growth factor 13  LINC00889  long intergenic non-protein coding RNA 889  Data Merged 737654 PROVISIONAL
2013-08-20 LINC00889  long intergenic non-protein coding RNA 889  LOC158696  uncharacterized LOC158696  Symbol and/or name change 5135510 APPROVED
2011-11-01 LOC158696  uncharacterized LOC158696  LOC158696  hypothetical LOC158696  Symbol and/or name change 5135510 APPROVED