FGFR4 (fibroblast growth factor receptor 4) - Rat Genome Database
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Gene: FGFR4 (fibroblast growth factor receptor 4) Homo sapiens
Analyze
Symbol: FGFR4
Name: fibroblast growth factor receptor 4
RGD ID: 736644
HGNC Page HGNC
Description: Exhibits fibroblast growth factor binding activity; fibroblast growth factor-activated receptor activity; and heparin binding activity. Involved in several processes, including positive regulation of ERK1 and ERK2 cascade; positive regulation of macromolecule metabolic process; and protein phosphorylation. Localizes to several cellular components, including Golgi apparatus; endoplasmic reticulum; and transport vesicle. Colocalizes with cell-cell junction.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD334; FGFR-4; hydroxyaryl-protein kinase; JTK2; MGC20292; protein-tyrosine kinase; TKF; tyrosine kinase related to fibroblast growth factor receptor; tyrosylprotein kinase
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 Ensembl5177,086,905 - 177,098,144 (+)EnsemblGRCh38hg38GRCh38
GRCh385177,086,915 - 177,098,144 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375176,513,916 - 176,525,145 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,446,527 - 176,457,733 (+)NCBINCBI36hg18NCBI36
Build 345176,446,526 - 176,457,730NCBI
Celera5171,976,184 - 171,987,401 (-)NCBI
Cytogenetic Map5q35.2NCBI
HuRef5171,435,609 - 171,446,679 (+)NCBIHuRef
CHM1_15175,946,705 - 175,957,908 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
benomyl  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
C60 fullerene  (ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP,ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
DDE  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
flusilazole  (ISO)
flutamide  (ISO)
furosemide  (ISO)
GW 4064  (ISO)
heparan sulfate  (EXP)
heparin  (EXP,ISO)
hydrogen peroxide  (EXP)
lead diacetate  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (ISO)
nitrofen  (ISO)
obeticholic acid  (EXP)
okadaic acid  (ISO)
p-toluidine  (ISO)
paracetamol  (ISO)
PD173074  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenylmercury acetate  (EXP)
phosgene  (ISO)
pirinixic acid  (EXP,ISO)
ponatinib  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulindac sulfide  (EXP)
taurocholic acid  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
valproic acid  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
References

Additional References at PubMed
PMID:1322355   PMID:1377018   PMID:1385111   PMID:1709094   PMID:1720539   PMID:2247464   PMID:7518429   PMID:7543024   PMID:7657660   PMID:7680645   PMID:7690989   PMID:8099571  
PMID:8125298   PMID:8530375   PMID:8576110   PMID:8626374   PMID:8663044   PMID:9168198   PMID:9211733   PMID:9212826   PMID:9457674   PMID:10336501   PMID:10525310   PMID:10579907  
PMID:10631118   PMID:10691305   PMID:10736564   PMID:10751172   PMID:10918587   PMID:11271786   PMID:11294897   PMID:11350938   PMID:11549253   PMID:11714710   PMID:11759058   PMID:11830541  
PMID:11839738   PMID:11940572   PMID:11958417   PMID:11981041   PMID:12244095   PMID:12373339   PMID:12477932   PMID:12576423   PMID:12626508   PMID:12637327   PMID:12642581   PMID:12815007  
PMID:12817007   PMID:14534538   PMID:14551213   PMID:14601095   PMID:14710228   PMID:15070963   PMID:15075241   PMID:15231874   PMID:15322115   PMID:15340161   PMID:15448004   PMID:15489334  
PMID:15564323   PMID:15750181   PMID:16012724   PMID:16061909   PMID:16091423   PMID:16109476   PMID:16210019   PMID:16365308   PMID:16597617   PMID:16721364   PMID:16822847   PMID:17084840  
PMID:17487277   PMID:17519899   PMID:17599042   PMID:17623664   PMID:17627937   PMID:17664243   PMID:18029348   PMID:18061161   PMID:18070145   PMID:18310279   PMID:18315732   PMID:18349267  
PMID:18480409   PMID:18487077   PMID:18593464   PMID:18593907   PMID:18670643   PMID:18756523   PMID:18762813   PMID:18949411   PMID:19008009   PMID:19085950   PMID:19237543   PMID:19240166  
PMID:19296538   PMID:19407855   PMID:19500394   PMID:19730683   PMID:19809159   PMID:19918264   PMID:19946327   PMID:20018895   PMID:20066896   PMID:20127014   PMID:20147743   PMID:20453000  
PMID:20565774   PMID:20634891   PMID:20638838   PMID:20644561   PMID:20657013   PMID:20660043   PMID:20683963   PMID:20691689   PMID:20798051   PMID:20844967   PMID:20876804   PMID:20881960  
PMID:21109934   PMID:21203561   PMID:21349172   PMID:21412156   PMID:21616061   PMID:21622724   PMID:21625079   PMID:21625954   PMID:21653700   PMID:21656577   PMID:21827571   PMID:21873635  
PMID:21882254   PMID:22034009   PMID:22174695   PMID:22241720   PMID:22271411   PMID:22419713   PMID:22439738   PMID:22442730   PMID:22535390   PMID:22573348   PMID:22648271   PMID:22703881  
PMID:22888118   PMID:22971346   PMID:22986737   PMID:23226373   PMID:23344261   PMID:23393200   PMID:23455922   PMID:23481570   PMID:23524567   PMID:23836671   PMID:23901234   PMID:23943801  
PMID:23944363   PMID:24126887   PMID:24200957   PMID:24239227   PMID:24248544   PMID:24288432   PMID:24324363   PMID:24410190   PMID:24416997   PMID:24503538   PMID:24550147   PMID:24565842  
PMID:24625004   PMID:25031272   PMID:25070056   PMID:25241761   PMID:25349422   PMID:25640309   PMID:25684949   PMID:25860955   PMID:26152288   PMID:26323668   PMID:26335532   PMID:26431494  
PMID:26432329   PMID:26498355   PMID:26551585   PMID:26675719   PMID:26681731   PMID:26840079   PMID:26856750   PMID:27154171   PMID:27192118   PMID:27447573   PMID:27615514   PMID:27640814  
PMID:27650548   PMID:27857023   PMID:27966451   PMID:28056982   PMID:28065597   PMID:28069043   PMID:28205554   PMID:28319085   PMID:28445152   PMID:28445975   PMID:28514442   PMID:28583379  
PMID:28628118   PMID:28650667   PMID:28718374   PMID:28919046   PMID:28951455   PMID:29048661   PMID:29402970   PMID:29438906   PMID:29569792   PMID:29603419   PMID:29763898   PMID:29845934  
PMID:29884889   PMID:29982249   PMID:30074276   PMID:30518874   PMID:30541128   PMID:30762338   PMID:30898150   PMID:30903103   PMID:31074061   PMID:31184820   PMID:31385026   PMID:31527546  
PMID:31575540   PMID:31601997   PMID:31878098   PMID:32111983   PMID:32114392   PMID:32236572   PMID:32573490   PMID:32781755   PMID:33051476  


Genomics

Comparative Map Data
FGFR4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5177,086,905 - 177,098,144 (+)EnsemblGRCh38hg38GRCh38
GRCh385177,086,915 - 177,098,144 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375176,513,916 - 176,525,145 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,446,527 - 176,457,733 (+)NCBINCBI36hg18NCBI36
Build 345176,446,526 - 176,457,730NCBI
Celera5171,976,184 - 171,987,401 (-)NCBI
Cytogenetic Map5q35.2NCBI
HuRef5171,435,609 - 171,446,679 (+)NCBIHuRef
CHM1_15175,946,705 - 175,957,908 (+)NCBICHM1_1
Fgfr4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,300,631 - 55,316,572 (+)NCBIGRCm39mm39
GRCm39 Ensembl1355,300,453 - 55,316,572 (+)Ensembl
GRCm381355,152,818 - 55,168,759 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,152,640 - 55,168,759 (+)EnsemblGRCm38mm10GRCm38
MGSCv371355,254,179 - 55,270,120 (+)NCBIGRCm37mm9NCBIm37
MGSCv361355,162,497 - 55,178,362 (+)NCBImm8
Celera1356,213,486 - 56,229,296 (+)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1329.8NCBI
Fgfr4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2179,461,541 - 9,476,268 (-)NCBI
Rnor_6.0 Ensembl179,990,078 - 10,004,321 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0179,990,072 - 10,004,339 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01712,099,383 - 12,113,637 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41715,512,144 - 15,527,348 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11715,512,146 - 15,523,432 (-)NCBI
Celera179,540,006 - 9,554,750 (-)NCBICelera
Cytogenetic Map17p14NCBI
Fgfr4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,370,468 - 29,383,971 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540829,370,480 - 29,383,531 (+)NCBIChiLan1.0ChiLan1.0
FGFR4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15179,454,995 - 179,466,114 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,454,995 - 179,467,605 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05172,386,443 - 172,400,271 (+)NCBIMhudiblu_PPA_v0panPan3
FGFR4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1436,243,689 - 36,254,636 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl436,244,220 - 36,252,035 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha436,209,722 - 36,220,671 (-)NCBI
ROS_Cfam_1.0436,607,886 - 36,618,835 (-)NCBI
UMICH_Zoey_3.1436,434,871 - 36,445,815 (-)NCBI
UNSW_CanFamBas_1.0436,622,022 - 36,632,969 (-)NCBI
UU_Cfam_GSD_1.0437,130,265 - 37,141,210 (-)NCBI
Fgfr4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_024407213122,360,727 - 122,372,869 (+)NCBI
SpeTri2.0NW_0049365971,388,394 - 1,397,731 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGFR4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,841,536 - 80,853,796 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1280,841,536 - 80,853,791 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2282,414,997 - 82,427,239 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FGFR4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,095,031 - 79,106,018 (+)NCBI
ChlSab1.1 Ensembl2379,097,429 - 79,105,456 (+)Ensembl
Fgfr4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473312,964,893 - 12,979,198 (-)NCBI

Position Markers
STS-L03840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,524,665 - 176,524,882UniSTSGRCh37
Build 365176,457,271 - 176,457,488RGDNCBI36
Celera5171,976,429 - 171,976,646RGD
Cytogenetic Map5q35.1-qterUniSTS
HuRef5171,446,217 - 171,446,434UniSTS
GeneMap99-GB4 RH Map5644.31UniSTS
NCBI RH Map5973.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5276
Count of miRNA genes:1028
Interacting mature miRNAs:1284
Transcripts:ENST00000292408, ENST00000292410, ENST00000393637, ENST00000393648, ENST00000426612, ENST00000430285, ENST00000483872, ENST00000502906, ENST00000503708, ENST00000507708, ENST00000508139, ENST00000509511, ENST00000510911, ENST00000511076, ENST00000513166, ENST00000513423, ENST00000514472
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 789 1 612 449 465 452 368 54 283 306 642 686 3 1 162 1
Low 1648 1362 1080 129 761 9 3144 1939 2853 75 809 886 129 1 859 2097 4 2
Below cutoff 1 1620 34 46 712 4 844 203 589 38 7 37 42 344 529

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_213647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF202063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF359241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF359246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF487555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF307233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM453707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF571596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC568398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC568401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN007482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L03840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000292408   ⟹   ENSP00000292408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,086,915 - 177,098,144 (+)Ensembl
RefSeq Acc Id: ENST00000393637   ⟹   ENSP00000377254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,089,567 - 177,097,769 (+)Ensembl
RefSeq Acc Id: ENST00000393648   ⟹   ENSP00000377259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,086,905 - 177,098,022 (+)Ensembl
RefSeq Acc Id: ENST00000426612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,089,598 - 177,091,096 (+)Ensembl
RefSeq Acc Id: ENST00000430285   ⟹   ENSP00000395164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,089,576 - 177,091,104 (+)Ensembl
RefSeq Acc Id: ENST00000483872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,094,825 - 177,095,579 (+)Ensembl
RefSeq Acc Id: ENST00000502906   ⟹   ENSP00000424960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,086,914 - 177,097,732 (+)Ensembl
RefSeq Acc Id: ENST00000503708   ⟹   ENSP00000424905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,086,905 - 177,091,104 (+)Ensembl
RefSeq Acc Id: ENST00000507708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,086,916 - 177,090,563 (+)Ensembl
RefSeq Acc Id: ENST00000508139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,091,778 - 177,093,496 (+)Ensembl
RefSeq Acc Id: ENST00000509511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,089,603 - 177,093,068 (+)Ensembl
RefSeq Acc Id: ENST00000510911   ⟹   ENSP00000427222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,086,916 - 177,090,560 (+)Ensembl
RefSeq Acc Id: ENST00000511076   ⟹   ENSP00000424670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,093,175 - 177,096,179 (+)Ensembl
RefSeq Acc Id: ENST00000513166   ⟹   ENSP00000422889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,087,419 - 177,090,622 (+)Ensembl
RefSeq Acc Id: ENST00000513423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,097,191 - 177,097,764 (+)Ensembl
RefSeq Acc Id: ENST00000514472   ⟹   ENSP00000426492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,086,914 - 177,090,641 (+)Ensembl
RefSeq Acc Id: NM_001291980   ⟹   NP_001278909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,086,915 - 177,098,144 (+)NCBI
CHM1_15175,946,705 - 175,957,908 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354984   ⟹   NP_001341913
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,086,915 - 177,098,144 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002011   ⟹   NP_002002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,086,915 - 177,098,144 (+)NCBI
GRCh375176,513,906 - 176,525,143 (+)NCBI
Build 365176,446,527 - 176,457,733 (+)NCBI Archive
HuRef5171,435,609 - 171,446,679 (+)ENTREZGENE
CHM1_15175,946,705 - 175,957,908 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022963   ⟹   NP_075252
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,089,550 - 177,098,142 (+)NCBI
GRCh375176,513,906 - 176,525,143 (+)NCBI
Build 365176,449,157 - 176,457,733 (+)NCBI Archive
HuRef5171,435,609 - 171,446,679 (+)ENTREZGENE
CHM1_15175,949,388 - 175,957,908 (+)NCBI
Sequence:
RefSeq Acc Id: NM_213647   ⟹   NP_998812
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,086,915 - 177,098,144 (+)NCBI
GRCh375176,513,906 - 176,525,143 (+)NCBI
Build 365176,446,527 - 176,457,733 (+)NCBI Archive
HuRef5171,435,609 - 171,446,679 (+)ENTREZGENE
CHM1_15175,946,705 - 175,957,908 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001278909 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341913 (Get FASTA)   NCBI Sequence Viewer  
  NP_002002 (Get FASTA)   NCBI Sequence Viewer  
  NP_075252 (Get FASTA)   NCBI Sequence Viewer  
  NP_998812 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA63208 (Get FASTA)   NCBI Sequence Viewer  
  AAB59389 (Get FASTA)   NCBI Sequence Viewer  
  AAF27432 (Get FASTA)   NCBI Sequence Viewer  
  AAH11847 (Get FASTA)   NCBI Sequence Viewer  
  AAK43714 (Get FASTA)   NCBI Sequence Viewer  
  AAK51435 (Get FASTA)   NCBI Sequence Viewer  
  AAM13666 (Get FASTA)   NCBI Sequence Viewer  
  ABQ01235 (Get FASTA)   NCBI Sequence Viewer  
  ACF47638 (Get FASTA)   NCBI Sequence Viewer  
  ACF47639 (Get FASTA)   NCBI Sequence Viewer  
  AEO19712 (Get FASTA)   NCBI Sequence Viewer  
  AEO19713 (Get FASTA)   NCBI Sequence Viewer  
  AEO19714 (Get FASTA)   NCBI Sequence Viewer  
  AEO19715 (Get FASTA)   NCBI Sequence Viewer  
  AEO19716 (Get FASTA)   NCBI Sequence Viewer  
  AEO19717 (Get FASTA)   NCBI Sequence Viewer  
  AEO19718 (Get FASTA)   NCBI Sequence Viewer  
  AEO19719 (Get FASTA)   NCBI Sequence Viewer  
  AEO19720 (Get FASTA)   NCBI Sequence Viewer  
  AEO19721 (Get FASTA)   NCBI Sequence Viewer  
  AEO19722 (Get FASTA)   NCBI Sequence Viewer  
  AEO19723 (Get FASTA)   NCBI Sequence Viewer  
  BAD92868 (Get FASTA)   NCBI Sequence Viewer  
  BAG62757 (Get FASTA)   NCBI Sequence Viewer  
  CAA40490 (Get FASTA)   NCBI Sequence Viewer  
  CAA74200 (Get FASTA)   NCBI Sequence Viewer  
  CAB75718 (Get FASTA)   NCBI Sequence Viewer  
  CEF39391 (Get FASTA)   NCBI Sequence Viewer  
  CEF39392 (Get FASTA)   NCBI Sequence Viewer  
  EAW85034 (Get FASTA)   NCBI Sequence Viewer  
  EAW85035 (Get FASTA)   NCBI Sequence Viewer  
  EAW85036 (Get FASTA)   NCBI Sequence Viewer  
  EAW85037 (Get FASTA)   NCBI Sequence Viewer  
  P22455 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_998812   ⟸   NM_213647
- Peptide Label: isoform 1 precursor
- UniProtKB: P22455 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002002   ⟸   NM_002011
- Peptide Label: isoform 1 precursor
- UniProtKB: P22455 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_075252   ⟸   NM_022963
- Peptide Label: isoform 2 precursor
- UniProtKB: P22455 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001278909   ⟸   NM_001291980
- Peptide Label: isoform 3 precursor
- UniProtKB: P22455 (UniProtKB/Swiss-Prot),   B4DVP5 (UniProtKB/TrEMBL),   J3KPQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341913   ⟸   NM_001354984
- Peptide Label: isoform 1 precursor
- Sequence:
RefSeq Acc Id: ENSP00000424960   ⟸   ENST00000502906
RefSeq Acc Id: ENSP00000292408   ⟸   ENST00000292408
RefSeq Acc Id: ENSP00000424905   ⟸   ENST00000503708
RefSeq Acc Id: ENSP00000395164   ⟸   ENST00000430285
RefSeq Acc Id: ENSP00000427222   ⟸   ENST00000510911
RefSeq Acc Id: ENSP00000377254   ⟸   ENST00000393637
RefSeq Acc Id: ENSP00000377259   ⟸   ENST00000393648
RefSeq Acc Id: ENSP00000424670   ⟸   ENST00000511076
RefSeq Acc Id: ENSP00000422889   ⟸   ENST00000513166
RefSeq Acc Id: ENSP00000426492   ⟸   ENST00000514472
Protein Domains
Ig-like   Ig-like C2-type   IGc2   Protein kinase

Promoters
RGD ID:6803201
Promoter ID:HG_KWN:51891
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000292410,   ENST00000393648,   OTTHUMT00000253410
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,446,364 - 176,446,864 (+)MPROMDB
RGD ID:6871662
Promoter ID:EPDNEW_H8995
Type:initiation region
Name:FGFR4_1
Description:fibroblast growth factor receptor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8996  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,086,916 - 177,086,976EPDNEW
RGD ID:6871664
Promoter ID:EPDNEW_H8996
Type:initiation region
Name:FGFR4_2
Description:fibroblast growth factor receptor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8995  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,087,367 - 177,087,427EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) single nucleotide variant Cancer progression and tumor cell motility [RCV000017723]|See cases [RCV001196704] Chr5:177093242 [GRCh38]
Chr5:176520243 [GRCh37]
Chr5:5q35.2
pathogenic|uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 copy number loss See cases [RCV000050645] Chr5:176132340..177586960 [GRCh38]
Chr5:175559343..177013961 [GRCh37]
Chr5:175491949..176946567 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 copy number loss See cases [RCV000053127] Chr5:176043476..177995759 [GRCh38]
Chr5:175470479..177422760 [GRCh37]
Chr5:175403085..177355366 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 copy number loss See cases [RCV000053128] Chr5:176115257..177646633 [GRCh38]
Chr5:175542260..177073634 [GRCh37]
Chr5:175474866..177006240 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 copy number loss See cases [RCV000053129] Chr5:176152073..177986213 [GRCh38]
Chr5:175579076..177413214 [GRCh37]
Chr5:175511682..177345820 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 copy number loss See cases [RCV000053131] Chr5:176152073..177646633 [GRCh38]
Chr5:175579076..177073634 [GRCh37]
Chr5:175511682..177006240 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 copy number gain See cases [RCV000053481] Chr5:176149599..177716401 [GRCh38]
Chr5:175576602..177143402 [GRCh37]
Chr5:175509208..177076008 [NCBI36]
Chr5:5q35.2-35.3
pathogenic|uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177452489)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|See cases [RCV000053860] Chr5:176043476..177452489 [GRCh38]
Chr5:175470479..176879490 [GRCh37]
Chr5:175403085..176812096 [NCBI36]
Chr5:5q35.2-35.3
pathogenic|uncertain significance
NM_213647.3(FGFR4):c.1684C>T (p.Leu562=) single nucleotide variant not provided [RCV000087260] Chr5:177095586 [GRCh38]
Chr5:176522587 [GRCh37]
Chr5:5q35.2
uncertain significance
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 copy number loss See cases [RCV000142365] Chr5:175989092..178009412 [GRCh38]
Chr5:175416095..177436413 [GRCh37]
Chr5:175348701..177369019 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 copy number loss See cases [RCV000142510] Chr5:176132340..177995759 [GRCh38]
Chr5:175559343..177422760 [GRCh37]
Chr5:175491949..177355366 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 copy number loss See cases [RCV000142047] Chr5:176291838..178662699 [GRCh38]
Chr5:175718841..178089700 [GRCh37]
Chr5:175651447..178022306 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 copy number loss See cases [RCV000142538] Chr5:176517339..177709289 [GRCh38]
Chr5:175944340..177136290 [GRCh37]
Chr5:175876946..177068896 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 copy number loss See cases [RCV000143463] Chr5:176143674..178009412 [GRCh38]
Chr5:175570677..177436413 [GRCh37]
Chr5:175503283..177369019 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_213647.3(FGFR4):c.1100A>G (p.Tyr367Cys) single nucleotide variant Breast neoplasm [RCV000433453] Chr5:177093180 [GRCh38]
Chr5:176520181 [GRCh37]
Chr5:5q35.2
likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_213647.3(FGFR4):c.1605C>A (p.Asn535Lys) single nucleotide variant Rhabdomyosarcoma (disease) [RCV000435933] Chr5:177095415 [GRCh38]
Chr5:176522416 [GRCh37]
Chr5:5q35.2
likely pathogenic
NM_213647.3(FGFR4):c.1649T>A (p.Val550Glu) single nucleotide variant Rhabdomyosarcoma (disease) [RCV000429407] Chr5:177095551 [GRCh38]
Chr5:176522552 [GRCh37]
Chr5:5q35.2
likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 copy number gain See cases [RCV000445774] Chr5:175722788..177423091 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_213647.3(FGFR4):c.1605C>G (p.Asn535Lys) single nucleotide variant Rhabdomyosarcoma (disease) [RCV000419077] Chr5:177095415 [GRCh38]
Chr5:176522416 [GRCh37]
Chr5:5q35.2
likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 copy number loss See cases [RCV000445817] Chr5:176505173..178230923 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 copy number loss See cases [RCV000511974] Chr5:175438045..177392885 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain See cases [RCV000511393] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 copy number loss See cases [RCV000512405] Chr5:175570678..177437340 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1 copy number loss not provided [RCV000682618] Chr5:176044976..177023859 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 copy number loss not provided [RCV000682614] Chr5:175438045..177481250 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 copy number loss not provided [RCV000682615] Chr5:175570677..177436413 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 copy number loss not provided [RCV000745338] Chr5:175346223..177423236 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 copy number loss not provided [RCV000745339] Chr5:175433876..177441189 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2(chr5:176445698-176535031)x3 copy number gain not provided [RCV000745346] Chr5:176445698..176535031 [GRCh37]
Chr5:5q35.2
benign
GRCh37/hg19 5q35.2(chr5:176524703-176529083)x1 copy number loss not provided [RCV000745347] Chr5:176524703..176529083 [GRCh37]
Chr5:5q35.2
benign
GRCh37/hg19 5q35.2(chr5:176525029-176529083)x1 copy number loss not provided [RCV000745348] Chr5:176525029..176529083 [GRCh37]
Chr5:5q35.2
benign
NM_213647.3(FGFR4):c.1772C>T (p.Ser591Phe) single nucleotide variant not provided [RCV000884560] Chr5:177095674 [GRCh38]
Chr5:176522675 [GRCh37]
Chr5:5q35.2
benign
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_213647.3(FGFR4):c.1944+7G>A single nucleotide variant not provided [RCV000942750] Chr5:177096186 [GRCh38]
Chr5:176523187 [GRCh37]
Chr5:5q35.2
likely benign
NM_213647.3(FGFR4):c.1944+6G>A single nucleotide variant not provided [RCV000963856] Chr5:177096185 [GRCh38]
Chr5:176523186 [GRCh37]
Chr5:5q35.2
benign
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) copy number gain not provided [RCV000767712] Chr5:176305543..177422876 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain not provided [RCV000846148] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
Single allele deletion Marfanoid habitus and intellectual disability [RCV000851176] Chr5:175875407..177036017 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup duplication 5q35 microduplication syndrome [RCV001199823] Chr5:176521456..176773091 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_213647.3(FGFR4):c.411G>A (p.Ser137=) single nucleotide variant not provided [RCV000952881] Chr5:177090800 [GRCh38]
Chr5:176517801 [GRCh37]
Chr5:5q35.2
benign
NM_213647.3(FGFR4):c.1404G>A (p.Val468=) single nucleotide variant not provided [RCV000921681] Chr5:177093660 [GRCh38]
Chr5:176520661 [GRCh37]
Chr5:5q35.2
likely benign
NM_213647.3(FGFR4):c.1002C>T (p.Leu334=) single nucleotide variant not provided [RCV000974388] Chr5:177092729 [GRCh38]
Chr5:176519730 [GRCh37]
Chr5:5q35.2
benign
NM_213647.3(FGFR4):c.684C>T (p.Asn228=) single nucleotide variant not provided [RCV000975091] Chr5:177091765 [GRCh38]
Chr5:176518766 [GRCh37]
Chr5:5q35.2
benign
NM_213647.3(FGFR4):c.1397+7T>G single nucleotide variant not provided [RCV000913875] Chr5:177093558 [GRCh38]
Chr5:176520559 [GRCh37]
Chr5:5q35.2
likely benign
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV001252953] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 copy number gain not provided [RCV001258712] Chr5:175570677..177114151 [GRCh37]
Chr5:5q35.2-35.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3691 AgrOrtholog
COSMIC FGFR4 COSMIC
Ensembl Genes ENSG00000160867 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000292408 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377254 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377259 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000395164 UniProtKB/TrEMBL
  ENSP00000422889 UniProtKB/TrEMBL
  ENSP00000424670 UniProtKB/TrEMBL
  ENSP00000424905 UniProtKB/TrEMBL
  ENSP00000424960 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000426492 UniProtKB/TrEMBL
  ENSP00000427222 UniProtKB/TrEMBL
Ensembl Transcript ENST00000292408 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393637 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393648 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000430285 UniProtKB/TrEMBL
  ENST00000502906 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000503708 UniProtKB/TrEMBL
  ENST00000510911 UniProtKB/TrEMBL
  ENST00000511076 UniProtKB/TrEMBL
  ENST00000513166 UniProtKB/TrEMBL
  ENST00000514472 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160867 GTEx
HGNC ID HGNC:3691 ENTREZGENE
Human Proteome Map FGFR4 Human Proteome Map
InterPro FGF_rcpt_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2264 UniProtKB/Swiss-Prot
NCBI Gene 2264 ENTREZGENE
OMIM 134935 OMIM
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28130 PharmGKB
PIRSF FGFR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R7P8_HUMAN UniProtKB/TrEMBL
  A0A024R7S1_HUMAN UniProtKB/TrEMBL
  B4DVP5 ENTREZGENE, UniProtKB/TrEMBL
  B5A964_HUMAN UniProtKB/TrEMBL
  B5A965_HUMAN UniProtKB/TrEMBL
  D6R9V0_HUMAN UniProtKB/TrEMBL
  D6RG06_HUMAN UniProtKB/TrEMBL
  D6RJD4_HUMAN UniProtKB/TrEMBL
  E7EWF4_HUMAN UniProtKB/TrEMBL
  FGFR4_HUMAN UniProtKB/Swiss-Prot
  H0Y9P2_HUMAN UniProtKB/TrEMBL
  J3KPQ0 ENTREZGENE, UniProtKB/TrEMBL
  P22455 ENTREZGENE
UniProt Secondary G3JVM2 UniProtKB/Swiss-Prot
  G3JVM5 UniProtKB/Swiss-Prot
  G3JVM7 UniProtKB/Swiss-Prot
  G3JVM9 UniProtKB/Swiss-Prot
  O43785 UniProtKB/Swiss-Prot
  Q14309 UniProtKB/Swiss-Prot
  Q71TW8 UniProtKB/Swiss-Prot
  Q8TDA0 UniProtKB/Swiss-Prot
  Q96KE5 UniProtKB/Swiss-Prot