FGFR4 (fibroblast growth factor receptor 4)

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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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	5	177,086,905 - 177,098,144 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	5	177,086,915 - 177,098,144 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	5	176,513,916 - 176,525,145 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	176,446,527 - 176,457,733 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	5	176,446,526 - 176,457,730	NCBI
Celera	5	171,976,184 - 171,987,401 (-)	NCBI
Cytogenetic Map	5	q35.2	NCBI
HuRef	5	171,435,609 - 171,446,679 (+)	NCBI		HuRef
CHM1_1	5	175,946,705 - 175,957,908 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adenoid cystic carcinoma (EXP)

adult respiratory distress syndrome (EXP)

Breast Neoplasms (IAGP)

Chromosome 5, Trisomy 5q (IAGP)

Marfanoid Mental Retardation Syndrome, Autosomal (IAGP)

Neoplasm Invasiveness (IAGP)

Prostatic Neoplasms (EXP)

rhabdomyosarcoma (IAGP)

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

Biological Process

alveolar secondary septum development (ISO)

cell migration (IMP)

cholesterol homeostasis (ISS)

fibroblast growth factor receptor signaling pathway (IDA,IEA,IGI,IPI,ISO,TAS)

glucose homeostasis (ISS)

lung development (ISO)

MAPK cascade (TAS)

multicellular organism development (IBA)

negative regulation of fibroblast growth factor production (ISO)

negative regulation of gene expression (ISO)

organ induction (ISO)

peptidyl-tyrosine phosphorylation (IDA,IEA)

phosphate ion homeostasis (ISS)

positive regulation of catalytic activity (IMP)

positive regulation of cell population proliferation (IDA,IEA,IGI,ISO)

positive regulation of DNA biosynthetic process (IMP)

positive regulation of ERK1 and ERK2 cascade (IBA,IMP)

positive regulation of gene expression (IMP)

positive regulation of kinase activity (IBA)

positive regulation of parathyroid hormone secretion (ISO)

positive regulation of protein kinase B signaling (TAS)

positive regulation of proteolysis (IMP)

protein autophosphorylation (IDA)

regulation of bile acid biosynthetic process (IBA,IMP)

regulation of extracellular matrix disassembly (IMP)

regulation of lipid metabolic process (ISS)

regulation of phosphate transport (ISO)

regulation of phosphorus metabolic process (ISO)

response to bile acid (IMP)

transmembrane receptor protein tyrosine kinase signaling pathway (IBA)

vitamin D3 metabolic process (ISO)

Cellular Component

cell-cell junction (IDA)

endoplasmic reticulum (IDA)

endosome (IEA)

extracellular region (IEA)

Golgi apparatus (IDA)

integral component of membrane (IEA)

integral component of plasma membrane (IBA,IDA)

plasma membrane (IDA,IEA,TAS)

receptor complex (IBA)

transport vesicle (IDA)

Molecular Function

ATP binding (IEA)

fibroblast growth factor binding (IBA,IDA,IPI)

fibroblast growth factor-activated receptor activity (IBA,IDA,IEA,IGI)

heparin binding (IDA)

protein binding (IPI)

protein tyrosine kinase activity (IEA)

transmembrane receptor protein tyrosine kinase activity (IBA)

Molecular Pathway Annotations Click to see Annotation Detail View

endocytosis pathway (IEA)

fibroblast growth factor signaling pathway (EXP)

mitogen activated protein kinase signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Neoplasm of the breast (IAGP)

Rhabdomyosarcoma (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	Pipeline to import KEGG annotations from KEGG into RGD
3.	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4.	RGD automated import pipeline for gene-chemical interactions

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	5	177,086,905 - 177,098,144 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	5	177,086,915 - 177,098,144 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	5	176,513,916 - 176,525,145 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	176,446,527 - 176,457,733 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	5	176,446,526 - 176,457,730	NCBI
Celera	5	171,976,184 - 171,987,401 (-)	NCBI
Cytogenetic Map	5	q35.2	NCBI
HuRef	5	171,435,609 - 171,446,679 (+)	NCBI		HuRef
CHM1_1	5	175,946,705 - 175,957,908 (+)	NCBI		CHM1_1

Fgfr4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	55,300,631 - 55,316,572 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	13	55,300,453 - 55,316,572 (+)	Ensembl
GRCm38	13	55,152,818 - 55,168,759 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	55,152,640 - 55,168,759 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	55,254,179 - 55,270,120 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	13	55,162,497 - 55,178,362 (+)	NCBI			mm8
Celera	13	56,213,486 - 56,229,296 (+)	NCBI		Celera
Cytogenetic Map	13	B1	NCBI
cM Map	13	29.8	NCBI

Fgfr4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	17	9,461,541 - 9,476,268 (-)	NCBI
Rnor_6.0 Ensembl	17	9,990,078 - 10,004,321 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	17	9,990,072 - 10,004,339 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	17	12,099,383 - 12,113,637 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	15,512,144 - 15,527,348 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	17	15,512,146 - 15,523,432 (-)	NCBI
Celera	17	9,540,006 - 9,554,750 (-)	NCBI		Celera
Cytogenetic Map	17	p14	NCBI

Fgfr4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955408	29,370,468 - 29,383,971 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955408	29,370,480 - 29,383,531 (+)	NCBI	ChiLan1.0	ChiLan1.0

FGFR4
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	5	179,454,995 - 179,466,114 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	179,454,995 - 179,467,605 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	5	172,386,443 - 172,400,271 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

FGFR4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	4	36,243,689 - 36,254,636 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	36,244,220 - 36,252,035 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	36,209,722 - 36,220,671 (-)	NCBI
ROS_Cfam_1.0	4	36,607,886 - 36,618,835 (-)	NCBI
UMICH_Zoey_3.1	4	36,434,871 - 36,445,815 (-)	NCBI
UNSW_CanFamBas_1.0	4	36,622,022 - 36,632,969 (-)	NCBI
UU_Cfam_GSD_1.0	4	37,130,265 - 37,141,210 (-)	NCBI

Fgfr4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_ltri_2	NW_024407213	122,360,727 - 122,372,869 (+)	NCBI
SpeTri2.0	NW_004936597	1,388,394 - 1,397,731 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FGFR4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	80,841,536 - 80,853,796 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	80,841,536 - 80,853,791 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	82,414,997 - 82,427,239 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FGFR4
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	23	79,095,031 - 79,106,018 (+)	NCBI
ChlSab1.1 Ensembl	23	79,097,429 - 79,105,456 (+)	Ensembl

Fgfr4
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624733	12,964,893 - 12,979,198 (-)	NCBI

Position Markers

STS-L03840

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	176,524,665 - 176,524,882	UniSTS	GRCh37
Build 36	5	176,457,271 - 176,457,488	RGD	NCBI36
Celera	5	171,976,429 - 171,976,646	RGD
Cytogenetic Map	5	q35.1-qter	UniSTS
HuRef	5	171,446,217 - 171,446,434	UniSTS
GeneMap99-GB4 RH Map	5	644.31	UniSTS
NCBI RH Map	5	973.0	UniSTS

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

612

449

465

452

368

283

306

642

686

162

Low

1648

1362

1080

129

761

3144

1939

2853

809

886

129

859

2097

Below cutoff

1620

712

844

203

589

344

529

View RNA-SEQ Expression Data

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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,086,915 - 177,098,144 (+)	Ensembl

RefSeq Acc Id:

ENST00000393637 ⟹ ENSP00000377254

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,089,567 - 177,097,769 (+)	Ensembl

RefSeq Acc Id:

ENST00000393648 ⟹ ENSP00000377259

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,086,905 - 177,098,022 (+)	Ensembl

RefSeq Acc Id:

ENST00000426612

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,089,598 - 177,091,096 (+)	Ensembl

RefSeq Acc Id:

ENST00000430285 ⟹ ENSP00000395164

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,089,576 - 177,091,104 (+)	Ensembl

RefSeq Acc Id:

ENST00000483872

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,094,825 - 177,095,579 (+)	Ensembl

RefSeq Acc Id:

ENST00000502906 ⟹ ENSP00000424960

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,086,914 - 177,097,732 (+)	Ensembl

RefSeq Acc Id:

ENST00000503708 ⟹ ENSP00000424905

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,086,905 - 177,091,104 (+)	Ensembl

RefSeq Acc Id:

ENST00000507708

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,086,916 - 177,090,563 (+)	Ensembl

RefSeq Acc Id:

ENST00000508139

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,091,778 - 177,093,496 (+)	Ensembl

RefSeq Acc Id:

ENST00000509511

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,089,603 - 177,093,068 (+)	Ensembl

RefSeq Acc Id:

ENST00000510911 ⟹ ENSP00000427222

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,086,916 - 177,090,560 (+)	Ensembl

RefSeq Acc Id:

ENST00000511076 ⟹ ENSP00000424670

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,093,175 - 177,096,179 (+)	Ensembl

RefSeq Acc Id:

ENST00000513166 ⟹ ENSP00000422889

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,087,419 - 177,090,622 (+)	Ensembl

RefSeq Acc Id:

ENST00000513423

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,097,191 - 177,097,764 (+)	Ensembl

RefSeq Acc Id:

ENST00000514472 ⟹ ENSP00000426492

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	5	177,086,914 - 177,090,641 (+)	Ensembl

RefSeq Acc Id:

NM_001291980 ⟹ NP_001278909

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	177,086,915 - 177,098,144 (+)	NCBI
CHM1_1	5	175,946,705 - 175,957,908 (+)	NCBI

Sequence:

show sequence

GACAGGAGGTGGGCCGCTCGCGGCCACGCCGCCGTCGCGGGTACATTCCTCGCTCCCGGCCGAG
GAGCGCTCGGGCTGTCTGCGGACCCTGCCGCGTGCAGGGGTCGCGGCCGGCTGGAGCTGGGAGT
GAGGCGGCGGAGGAGCCAGGTGAGGAGGAGCCAGGAAGGCAGTTGGTGGGAAGTCCAGCTTGGG
TCCCTGAGAGCTGTGAGAAGGAGATGCGGCTGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGT
GCCTGGGCCTCCAGTCTTGTCCCTGGAGGCCTCTGAGGAAGTGGAGCTTGAGCCCTGCCTGGCT
CCCAGCCTGGAGCAGCAAGAGCAGGAGCTGACAGTAGCCCTTGGGCAGCCTGTGCGTCTGTGCT
GTGGGCGGGCTGAGCGTGGTGGCCACTGGTACAAGGAGGGCAGTCGCCTGGCACCTGCTGGCCG
TGTACGGGGCTGGAGGGGCCGCCTAGAGATTGCCAGCTTCCTACCTGAGGATGCTGGCCGCTAC
CTCTGCCTGGCACGAGGCTCCATGATCGTCCTGCAGAATCTCACCTTGATTACAGGTGACTCCT
TGACCTCCAGCAACGATGATGAGGACCCCAAGTCCCATAGGGACCCCTCGAATAGGCACAGTTA
CCCCCAGCAAGCACCCTACTGGACACACCCCCAGCGCATGGAGAAGAAACTGCATGCAGTACCT
GCGGGGAACACCGTCAAGTTCCGCTGTCCAGCTGCAGGCAACCCCACGCCCACCATCCGCTGGC
TTAAGGATGGACAGGCCTTTCATGGGGAGAACCGCATTGGAGGCATTCGGCTGCGCCATCAGCA
CTGGAGTCTCGTGATGGAGAGCGTGGTGCCCTCGGACCGCGGCACATACACCTGCCTGGTAGAG
AACGCTGTGGGCAGCATCCGCTATAACTACCTGCTAGATGTGCTGGAGCGGTCCCCGCACCGGC
CCATCCTGCAGGCCGGGCTCCCGGCCAACACCACAGCCGTGGTGGGCAGCGACGTGGAGCTGCT
GTGCAAGGTGTACAGCGATGCCCAGCCCCACATCCAGTGGCTGAAGCACATCGTCATCAACGGC
AGCAGCTTCGGAGCCGACGGTTTCCCCTATGTGCAAGTCCTAAAGACTGCAGACATCAATAGCT
CAGAGGTGGAGGTCCTGTACCTGCGGAACGTGTCAGCCGAGGACGCAGGCGAGTACACCTGCCT
CGCAGGCAATTCCATCGGCCTCTCCTACCAGTCTGCCTGGCTCACGGTGCTGCCAGAGGAGGAC
CCCACATGGACCGCAGCAGCGCCCGAGGCCAGTTCTCCCTGGAGTCAGGCTCTTCCGGCAAGTC
AAGCTCATCCCTGGTACGAGGCGTGCGTCTCTCCTCCAGCGGCCCCGCCTTGCTCGCCGGCCTC
GCTGGTGCTTGGGAAGCCCCTAGGCGAGGGCTGCTTTGGCCAGGTAGTACGTGCAGAGGCCTTT
GGCATGGACCCTGCCCGGCCTGACCAAGCCAGCACTGTGGCCGTCAAGATGCTCAAAGACAACG
CCTCTGACAAGGACCTGGCCGACCTGGTCTCGGAGATGGAGGTGATGAAGCTGATCGGCCGACA
CAAGAACATCATCAACCTGCTTGGTGTCTGCACCCAGGAAGGGCCCCTGTACGTGATCGTGGAG
TGCGCCGCCAAGGGAAACCTGCGGGAGTTCCTGCGGGCCCGGCGCCCCCCAGGCCCCGACCTCA
GCCCCGACGGTCCTCGGAGCAGTGAGGGGCCGCTCTCCTTCCCAGTCCTGGTCTCCTGCGCCTA
CCAGGTGGCCCGAGGCATGCAGTATCTGGAGTCCCGGAAGTGTATCCACCGGGACCTGGCTGCC
CGCAATGTGCTGGTGACTGAGGACAATGTGATGAAGATTGCTGACTTTGGGCTGGCCCGCGGCG
TCCACCACATTGACTACTATAAGAAAACCAGCAACGGCCGCCTGCCTGTGAAGTGGATGGCGCC
CGAGGCCTTGTTTGACCGGGTGTACACACACCAGAGTGACGTGTGGTCTTTTGGGATCCTGCTA
TGGGAGATCTTCACCCTCGGGGGCTCCCCGTATCCTGGCATCCCGGTGGAGGAGCTGTTCTCGC
TGCTGCGGGAGGGACATCGGATGGACCGACCCCCACACTGCCCCCCAGAGCTGTACGGGCTGAT
GCGTGAGTGCTGGCACGCAGCGCCCTCCCAGAGGCCTACCTTCAAGCAGCTGGTGGAGGCGCTG
GACAAGGTCCTGCTGGCCGTCTCTGAGGAGTACCTCGACCTCCGCCTGACCTTCGGACCCTATT
CCCCCTCTGGTGGGGACGCCAGCAGCACCTGCTCCTCCAGCGATTCTGTCTTCAGCCACGACCC
CCTGCCATTGGGATCCAGCTCCTTCCCCTTCGGGTCTGGGGTGCAGACATGAGCAAGGCTCAAG
GCTGTGCAGGCACATAGGCTGGTGGCCTTGGGCCTTGGGGCTCAGCCACAGCCTGACACAGTGC
TCGACCTTGATAGCATGGGGCCCCTGGCCCAGAGTTGCTGTGCCGTGTCCAAGGGCCGTGCCCT
TGCCCTTGGAGCTGCCGTGCCTGTGTCCTGATGGCCCAAATGTCAGGGTTCTGCTCGGCTTCTT
GGACCTTGGCGCTTAGTCCCCATCCCGGGTTTGGCTGAGCCTGGCTGGAGAGCTGCTATGCTAA
ACCTCCTGCCTCCCAATACCAGCAGGAGGTTCTGGGCCTCTGAACCCCCTTTCCCCACACCTCC
CCCTGCTGCTGCTGCCCCAGCGTCTTGACGGGAGCATTGGCCCCTGAGCCCAGAGAAGCTGGAA
GCCTGCCGAAAACAGGAGCAAATGGCGTTTTATAAATTATTTTTTTGAAATAAAGCTCTGTGTG
CCTGGGAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001354984 ⟹ NP_001341913

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	177,086,915 - 177,098,144 (+)	NCBI

Sequence:

show sequence

GACAGGAGGTGGGCCGCTCGCGGCCACGCCGCCGTCGCGGGTACATTCCTCGCTCCCGGCCGAG
GAGCGCTCGGGCTGTCTGCGGACCCTGCCGCGTGCAGGGGTCGCGGCCGGCTGGAGCTGGGAGT
GAGGCGGCGGAGGAGCCAGGAAGGCAGTTGGTGGGAAGTCCAGCTTGGGTCCCTGAGAGCTGTG
AGAAGGAGATGCGGCTGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGGCCTCCAGT
CTTGTCCCTGGAGGCCTCTGAGGAAGTGGAGCTTGAGCCCTGCCTGGCTCCCAGCCTGGAGCAG
CAAGAGCAGGAGCTGACAGTAGCCCTTGGGCAGCCTGTGCGTCTGTGCTGTGGGCGGGCTGAGC
GTGGTGGCCACTGGTACAAGGAGGGCAGTCGCCTGGCACCTGCTGGCCGTGTACGGGGCTGGAG
GGGCCGCCTAGAGATTGCCAGCTTCCTACCTGAGGATGCTGGCCGCTACCTCTGCCTGGCACGA
GGCTCCATGATCGTCCTGCAGAATCTCACCTTGATTACAGGTGACTCCTTGACCTCCAGCAACG
ATGATGAGGACCCCAAGTCCCATAGGGACCCCTCGAATAGGCACAGTTACCCCCAGCAAGCACC
CTACTGGACACACCCCCAGCGCATGGAGAAGAAACTGCATGCAGTACCTGCGGGGAACACCGTC
AAGTTCCGCTGTCCAGCTGCAGGCAACCCCACGCCCACCATCCGCTGGCTTAAGGATGGACAGG
CCTTTCATGGGGAGAACCGCATTGGAGGCATTCGGCTGCGCCATCAGCACTGGAGTCTCGTGAT
GGAGAGCGTGGTGCCCTCGGACCGCGGCACATACACCTGCCTGGTAGAGAACGCTGTGGGCAGC
ATCCGCTATAACTACCTGCTAGATGTGCTGGAGCGGTCCCCGCACCGGCCCATCCTGCAGGCCG
GGCTCCCGGCCAACACCACAGCCGTGGTGGGCAGCGACGTGGAGCTGCTGTGCAAGGTGTACAG
CGATGCCCAGCCCCACATCCAGTGGCTGAAGCACATCGTCATCAACGGCAGCAGCTTCGGAGCC
GACGGTTTCCCCTATGTGCAAGTCCTAAAGACTGCAGACATCAATAGCTCAGAGGTGGAGGTCC
TGTACCTGCGGAACGTGTCAGCCGAGGACGCAGGCGAGTACACCTGCCTCGCAGGCAATTCCAT
CGGCCTCTCCTACCAGTCTGCCTGGCTCACGGTGCTGCCAGAGGAGGACCCCACATGGACCGCA
GCAGCGCCCGAGGCCAGGTATACGGACATCATCCTGTACGCGTCGGGCTCCCTGGCCTTGGCTG
TGCTCCTGCTGCTGGCCGGGCTGTATCGAGGGCAGGCGCTCCACGGCCGGCACCCCCGCCCGCC
CGCCACTGTGCAGAAGCTCTCCCGCTTCCCTCTGGCCCGACAGTTCTCCCTGGAGTCAGGCTCT
TCCGGCAAGTCAAGCTCATCCCTGGTACGAGGCGTGCGTCTCTCCTCCAGCGGCCCCGCCTTGC
TCGCCGGCCTCGTGAGTCTAGATCTACCTCTCGACCCACTATGGGAGTTCCCCCGGGACAGGCT
GGTGCTTGGGAAGCCCCTAGGCGAGGGCTGCTTTGGCCAGGTAGTACGTGCAGAGGCCTTTGGC
ATGGACCCTGCCCGGCCTGACCAAGCCAGCACTGTGGCCGTCAAGATGCTCAAAGACAACGCCT
CTGACAAGGACCTGGCCGACCTGGTCTCGGAGATGGAGGTGATGAAGCTGATCGGCCGACACAA
GAACATCATCAACCTGCTTGGTGTCTGCACCCAGGAAGGGCCCCTGTACGTGATCGTGGAGTGC
GCCGCCAAGGGAAACCTGCGGGAGTTCCTGCGGGCCCGGCGCCCCCCAGGCCCCGACCTCAGCC
CCGACGGTCCTCGGAGCAGTGAGGGGCCGCTCTCCTTCCCAGTCCTGGTCTCCTGCGCCTACCA
GGTGGCCCGAGGCATGCAGTATCTGGAGTCCCGGAAGTGTATCCACCGGGACCTGGCTGCCCGC
AATGTGCTGGTGACTGAGGACAATGTGATGAAGATTGCTGACTTTGGGCTGGCCCGCGGCGTCC
ACCACATTGACTACTATAAGAAAACCAGCAACGGCCGCCTGCCTGTGAAGTGGATGGCGCCCGA
GGCCTTGTTTGACCGGGTGTACACACACCAGAGTGACGTGTGGTCTTTTGGGATCCTGCTATGG
GAGATCTTCACCCTCGGGGGCTCCCCGTATCCTGGCATCCCGGTGGAGGAGCTGTTCTCGCTGC
TGCGGGAGGGACATCGGATGGACCGACCCCCACACTGCCCCCCAGAGCTGTACGGGCTGATGCG
TGAGTGCTGGCACGCAGCGCCCTCCCAGAGGCCTACCTTCAAGCAGCTGGTGGAGGCGCTGGAC
AAGGTCCTGCTGGCCGTCTCTGAGGAGTACCTCGACCTCCGCCTGACCTTCGGACCCTATTCCC
CCTCTGGTGGGGACGCCAGCAGCACCTGCTCCTCCAGCGATTCTGTCTTCAGCCACGACCCCCT
GCCATTGGGATCCAGCTCCTTCCCCTTCGGGTCTGGGGTGCAGACATGAGCAAGGCTCAAGGCT
GTGCAGGCACATAGGCTGGTGGCCTTGGGCCTTGGGGCTCAGCCACAGCCTGACACAGTGCTCG
ACCTTGATAGCATGGGGCCCCTGGCCCAGAGTTGCTGTGCCGTGTCCAAGGGCCGTGCCCTTGC
CCTTGGAGCTGCCGTGCCTGTGTCCTGATGGCCCAAATGTCAGGGTTCTGCTCGGCTTCTTGGA
CCTTGGCGCTTAGTCCCCATCCCGGGTTTGGCTGAGCCTGGCTGGAGAGCTGCTATGCTAAACC
TCCTGCCTCCCAATACCAGCAGGAGGTTCTGGGCCTCTGAACCCCCTTTCCCCACACCTCCCCC
TGCTGCTGCTGCCCCAGCGTCTTGACGGGAGCATTGGCCCCTGAGCCCAGAGAAGCTGGAAGCC
TGCCGAAAACAGGAGCAAATGGCGTTTTATAAATTATTTTTTTGAAATAAAGCTCTGTGTGCCT
GGG

hide sequence

RefSeq Acc Id:

NM_002011 ⟹ NP_002002

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	177,086,915 - 177,098,144 (+)	NCBI
GRCh37	5	176,513,906 - 176,525,143 (+)	NCBI
Build 36	5	176,446,527 - 176,457,733 (+)	NCBI Archive
HuRef	5	171,435,609 - 171,446,679 (+)	ENTREZGENE
CHM1_1	5	175,946,705 - 175,957,908 (+)	NCBI

Sequence:

show sequence

GACAGGAGGTGGGCCGCTCGCGGCCACGCCGCCGTCGCGGGTACATTCCTCGCTCCCGGCCGAG
GAGCGCTCGGGCTGTCTGCGGACCCTGCCGCGTGCAGGGGTCGCGGCCGGCTGGAGCTGGGAGT
GAGGCGGCGGAGGAGCCAGGTGAGGAGGAGCCAGGAAGGCAGTTGGTGGGAAGTCCAGCTTGGG
TCCCTGAGAGCTGTGAGAAGGAGATGCGGCTGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGT
GCCTGGGCCTCCAGTCTTGTCCCTGGAGGCCTCTGAGGAAGTGGAGCTTGAGCCCTGCCTGGCT
CCCAGCCTGGAGCAGCAAGAGCAGGAGCTGACAGTAGCCCTTGGGCAGCCTGTGCGTCTGTGCT
GTGGGCGGGCTGAGCGTGGTGGCCACTGGTACAAGGAGGGCAGTCGCCTGGCACCTGCTGGCCG
TGTACGGGGCTGGAGGGGCCGCCTAGAGATTGCCAGCTTCCTACCTGAGGATGCTGGCCGCTAC
CTCTGCCTGGCACGAGGCTCCATGATCGTCCTGCAGAATCTCACCTTGATTACAGGTGACTCCT
TGACCTCCAGCAACGATGATGAGGACCCCAAGTCCCATAGGGACCCCTCGAATAGGCACAGTTA
CCCCCAGCAAGCACCCTACTGGACACACCCCCAGCGCATGGAGAAGAAACTGCATGCAGTACCT
GCGGGGAACACCGTCAAGTTCCGCTGTCCAGCTGCAGGCAACCCCACGCCCACCATCCGCTGGC
TTAAGGATGGACAGGCCTTTCATGGGGAGAACCGCATTGGAGGCATTCGGCTGCGCCATCAGCA
CTGGAGTCTCGTGATGGAGAGCGTGGTGCCCTCGGACCGCGGCACATACACCTGCCTGGTAGAG
AACGCTGTGGGCAGCATCCGCTATAACTACCTGCTAGATGTGCTGGAGCGGTCCCCGCACCGGC
CCATCCTGCAGGCCGGGCTCCCGGCCAACACCACAGCCGTGGTGGGCAGCGACGTGGAGCTGCT
GTGCAAGGTGTACAGCGATGCCCAGCCCCACATCCAGTGGCTGAAGCACATCGTCATCAACGGC
AGCAGCTTCGGAGCCGACGGTTTCCCCTATGTGCAAGTCCTAAAGACTGCAGACATCAATAGCT
CAGAGGTGGAGGTCCTGTACCTGCGGAACGTGTCAGCCGAGGACGCAGGCGAGTACACCTGCCT
CGCAGGCAATTCCATCGGCCTCTCCTACCAGTCTGCCTGGCTCACGGTGCTGCCAGAGGAGGAC
CCCACATGGACCGCAGCAGCGCCCGAGGCCAGGTATACGGACATCATCCTGTACGCGTCGGGCT
CCCTGGCCTTGGCTGTGCTCCTGCTGCTGGCCGGGCTGTATCGAGGGCAGGCGCTCCACGGCCG
GCACCCCCGCCCGCCCGCCACTGTGCAGAAGCTCTCCCGCTTCCCTCTGGCCCGACAGTTCTCC
CTGGAGTCAGGCTCTTCCGGCAAGTCAAGCTCATCCCTGGTACGAGGCGTGCGTCTCTCCTCCA
GCGGCCCCGCCTTGCTCGCCGGCCTCGTGAGTCTAGATCTACCTCTCGACCCACTATGGGAGTT
CCCCCGGGACAGGCTGGTGCTTGGGAAGCCCCTAGGCGAGGGCTGCTTTGGCCAGGTAGTACGT
GCAGAGGCCTTTGGCATGGACCCTGCCCGGCCTGACCAAGCCAGCACTGTGGCCGTCAAGATGC
TCAAAGACAACGCCTCTGACAAGGACCTGGCCGACCTGGTCTCGGAGATGGAGGTGATGAAGCT
GATCGGCCGACACAAGAACATCATCAACCTGCTTGGTGTCTGCACCCAGGAAGGGCCCCTGTAC
GTGATCGTGGAGTGCGCCGCCAAGGGAAACCTGCGGGAGTTCCTGCGGGCCCGGCGCCCCCCAG
GCCCCGACCTCAGCCCCGACGGTCCTCGGAGCAGTGAGGGGCCGCTCTCCTTCCCAGTCCTGGT
CTCCTGCGCCTACCAGGTGGCCCGAGGCATGCAGTATCTGGAGTCCCGGAAGTGTATCCACCGG
GACCTGGCTGCCCGCAATGTGCTGGTGACTGAGGACAATGTGATGAAGATTGCTGACTTTGGGC
TGGCCCGCGGCGTCCACCACATTGACTACTATAAGAAAACCAGCAACGGCCGCCTGCCTGTGAA
GTGGATGGCGCCCGAGGCCTTGTTTGACCGGGTGTACACACACCAGAGTGACGTGTGGTCTTTT
GGGATCCTGCTATGGGAGATCTTCACCCTCGGGGGCTCCCCGTATCCTGGCATCCCGGTGGAGG
AGCTGTTCTCGCTGCTGCGGGAGGGACATCGGATGGACCGACCCCCACACTGCCCCCCAGAGCT
GTACGGGCTGATGCGTGAGTGCTGGCACGCAGCGCCCTCCCAGAGGCCTACCTTCAAGCAGCTG
GTGGAGGCGCTGGACAAGGTCCTGCTGGCCGTCTCTGAGGAGTACCTCGACCTCCGCCTGACCT
TCGGACCCTATTCCCCCTCTGGTGGGGACGCCAGCAGCACCTGCTCCTCCAGCGATTCTGTCTT
CAGCCACGACCCCCTGCCATTGGGATCCAGCTCCTTCCCCTTCGGGTCTGGGGTGCAGACATGA
GCAAGGCTCAAGGCTGTGCAGGCACATAGGCTGGTGGCCTTGGGCCTTGGGGCTCAGCCACAGC
CTGACACAGTGCTCGACCTTGATAGCATGGGGCCCCTGGCCCAGAGTTGCTGTGCCGTGTCCAA
GGGCCGTGCCCTTGCCCTTGGAGCTGCCGTGCCTGTGTCCTGATGGCCCAAATGTCAGGGTTCT
GCTCGGCTTCTTGGACCTTGGCGCTTAGTCCCCATCCCGGGTTTGGCTGAGCCTGGCTGGAGAG
CTGCTATGCTAAACCTCCTGCCTCCCAATACCAGCAGGAGGTTCTGGGCCTCTGAACCCCCTTT
CCCCACACCTCCCCCTGCTGCTGCTGCCCCAGCGTCTTGACGGGAGCATTGGCCCCTGAGCCCA
GAGAAGCTGGAAGCCTGCCGAAAACAGGAGCAAATGGCGTTTTATAAATTATTTTTTTGAAATA
AAGCTCTGTGTGCCTGGGAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_022963 ⟹ NP_075252

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	177,089,550 - 177,098,142 (+)	NCBI
GRCh37	5	176,513,906 - 176,525,143 (+)	NCBI
Build 36	5	176,449,157 - 176,457,733 (+)	NCBI Archive
HuRef	5	171,435,609 - 171,446,679 (+)	ENTREZGENE
CHM1_1	5	175,949,388 - 175,957,908 (+)	NCBI

Sequence:

show sequence

GAAGGCAGTTGGTGGGAAGTCCAGCTTGGGTCCCTGAGAGCTGTGAGAAGGAGATGCGGCTGCT
GCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGGCCTCCAGTCTTGTCCCTGGAGGCCTCT
GAGGAAGTGGAGCTTGAGCCCTGCCTGGCTCCCAGCCTGGAGCAGCAAGAGCAGGAGCTGACAG
TAGCCCTTGGGCAGCCTGTGCGTCTGTGCTGTGGGCGGGCTGAGCGTGGTGGCCACTGGTACAA
GGAGGGCAGTCGCCTGGCACCTGCTGGCCGTGTACGGGGCTGGAGGGGCCGCCTAGAGATTGCC
AGCTTCCTACCTGAGGATGCTGGCCGCTACCTCTGCCTGGCACGAGGCTCCATGATCGTCCTGC
AGAATCTCACCTTGATTACAGGTGACTCCTTGACCTCCAGCAACGATGATGAGGACCCCAAGTC
CCATAGGGACCCCTCGAATAGGCACAGTTACCCCCAGCAAGCACCCTACTGGACACACCCCCAG
CGCATGGAGAAGAAACTGCATGCAGTACCTGCGGGGAACACCGTCAAGTTCCGCTGTCCAGCTG
CAGGCAACCCCACGCCCACCATCCGCTGGCTTAAGGATGGACAGGCCTTTCATGGGGAGAACCG
CATTGGAGGCATTCGGCTGCGCCATCAGCACTGGAGTCTCGTGATGGAGAGCGTGGTGCCCTCG
GACCGCGGCACATACACCTGCCTGGTAGAGAACGCTGTGGGCAGCATCCGCTATAACTACCTGC
TAGATGTGCTGGAGCGGTCCCCGCACCGGCCCATCCTGCAGGCCGGGCTCCCGGCCAACACCAC
AGCCGTGGTGGGCAGCGACGTGGAGCTGCTGTGCAAGGTGTACAGCGATGCCCAGCCCCACATC
CAGTGGCTGAAGCACATCGTCATCAACGGCAGCAGCTTCGGAGCCGACGGTTTCCCCTATGTGC
AAGTCCTAAAGACTGCAGACATCAATAGCTCAGAGGTGGAGGTCCTGTACCTGCGGAACGTGTC
AGCCGAGGACGCAGGCGAGTACACCTGCCTCGCAGGCAATTCCATCGGCCTCTCCTACCAGTCT
GCCTGGCTCACGGTGCTGCCAGGTACTGGGCGCATCCCCCACCTCACATGTGACAGCCTGACTC
CAGCAGGCAGAACCAAGTCTCCCACTTTGCAGTTCTCCCTGGAGTCAGGCTCTTCCGGCAAGTC
AAGCTCATCCCTGGTACGAGGCGTGCGTCTCTCCTCCAGCGGCCCCGCCTTGCTCGCCGGCCTC
GTGAGTCTAGATCTACCTCTCGACCCACTATGGGAGTTCCCCCGGGACAGGCTGGTGCTTGGGA
AGCCCCTAGGCGAGGGCTGCTTTGGCCAGGTAGTACGTGCAGAGGCCTTTGGCATGGACCCTGC
CCGGCCTGACCAAGCCAGCACTGTGGCCGTCAAGATGCTCAAAGACAACGCCTCTGACAAGGAC
CTGGCCGACCTGGTCTCGGAGATGGAGGTGATGAAGCTGATCGGCCGACACAAGAACATCATCA
ACCTGCTTGGTGTCTGCACCCAGGAAGGGCCCCTGTACGTGATCGTGGAGTGCGCCGCCAAGGG
AAACCTGCGGGAGTTCCTGCGGGCCCGGCGCCCCCCAGGCCCCGACCTCAGCCCCGACGGTCCT
CGGAGCAGTGAGGGGCCGCTCTCCTTCCCAGTCCTGGTCTCCTGCGCCTACCAGGTGGCCCGAG
GCATGCAGTATCTGGAGTCCCGGAAGTGTATCCACCGGGACCTGGCTGCCCGCAATGTGCTGGT
GACTGAGGACAATGTGATGAAGATTGCTGACTTTGGGCTGGCCCGCGGCGTCCACCACATTGAC
TACTATAAGAAAACCAGCAACGGCCGCCTGCCTGTGAAGTGGATGGCGCCCGAGGCCTTGTTTG
ACCGGGTGTACACACACCAGAGTGACGTGTGGTCTTTTGGGATCCTGCTATGGGAGATCTTCAC
CCTCGGGGGCTCCCCGTATCCTGGCATCCCGGTGGAGGAGCTGTTCTCGCTGCTGCGGGAGGGA
CATCGGATGGACCGACCCCCACACTGCCCCCCAGAGCTGTACGGGCTGATGCGTGAGTGCTGGC
ACGCAGCGCCCTCCCAGAGGCCTACCTTCAAGCAGCTGGTGGAGGCGCTGGACAAGGTCCTGCT
GGCCGTCTCTGAGGAGTACCTCGACCTCCGCCTGACCTTCGGACCCTATTCCCCCTCTGGTGGG
GACGCCAGCAGCACCTGCTCCTCCAGCGATTCTGTCTTCAGCCACGACCCCCTGCCATTGGGAT
CCAGCTCCTTCCCCTTCGGGTCTGGGGTGCAGACATGAGCAAGGCTCAAGGCTGTGCAGGCACA
TAGGCTGGTGGCCTTGGGCCTTGGGGCTCAGCCACAGCCTGACACAGTGCTCGACCTTGATAGC
ATGGGGCCCCTGGCCCAGAGTTGCTGTGCCGTGTCCAAGGGCCGTGCCCTTGCCCTTGGAGCTG
CCGTGCCTGTGTCCTGATGGCCCAAATGTCAGGGTTCTGCTCGGCTTCTTGGACCTTGGCGCTT
AGTCCCCATCCCGGGTTTGGCTGAGCCTGGCTGGAGAGCTGCTATGCTAAACCTCCTGCCTCCC
AATACCAGCAGGAGGTTCTGGGCCTCTGAACCCCCTTTCCCCACACCTCCCCCTGCTGCTGCTG
CCCCAGCGTCTTGACGGGAGCATTGGCCCCTGAGCCCAGAGAAGCTGGAAGCCTGCCGAAAACA
GGAGCAAATGGCGTTTTATAAATTATTTTTTTGAAATAAAGCTCTGTGTGCCTGGGAAAAAAAA
AAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_213647 ⟹ NP_998812

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	177,086,915 - 177,098,144 (+)	NCBI
GRCh37	5	176,513,906 - 176,525,143 (+)	NCBI
Build 36	5	176,446,527 - 176,457,733 (+)	NCBI Archive
HuRef	5	171,435,609 - 171,446,679 (+)	ENTREZGENE
CHM1_1	5	175,946,705 - 175,957,908 (+)	NCBI

Sequence:

show sequence

GACAGGAGGTGGGCCGCTCGCGGCCACGCCGCCGTCGCGGGTACATTCCTCGCTCCCGGCCGAG
GAGCGCTCGGGCTGTCTGCGGACCCTGCCGCGTGCAGGGGTCGCGGCCGGCTGGAGCTGGGAGT
GAGGCGGCGGAGGAGCCAGGTGAGGAGGAGCCAGGTGAGCAGGACCCTGTGCTGGGCGCGGAGT
CACGCAGGCTCGAGGAAGGCAGTTGGTGGGAAGTCCAGCTTGGGTCCCTGAGAGCTGTGAGAAG
GAGATGCGGCTGCTGCTGGCCCTGTTGGGGGTCCTGCTGAGTGTGCCTGGGCCTCCAGTCTTGT
CCCTGGAGGCCTCTGAGGAAGTGGAGCTTGAGCCCTGCCTGGCTCCCAGCCTGGAGCAGCAAGA
GCAGGAGCTGACAGTAGCCCTTGGGCAGCCTGTGCGTCTGTGCTGTGGGCGGGCTGAGCGTGGT
GGCCACTGGTACAAGGAGGGCAGTCGCCTGGCACCTGCTGGCCGTGTACGGGGCTGGAGGGGCC
GCCTAGAGATTGCCAGCTTCCTACCTGAGGATGCTGGCCGCTACCTCTGCCTGGCACGAGGCTC
CATGATCGTCCTGCAGAATCTCACCTTGATTACAGGTGACTCCTTGACCTCCAGCAACGATGAT
GAGGACCCCAAGTCCCATAGGGACCCCTCGAATAGGCACAGTTACCCCCAGCAAGCACCCTACT
GGACACACCCCCAGCGCATGGAGAAGAAACTGCATGCAGTACCTGCGGGGAACACCGTCAAGTT
CCGCTGTCCAGCTGCAGGCAACCCCACGCCCACCATCCGCTGGCTTAAGGATGGACAGGCCTTT
CATGGGGAGAACCGCATTGGAGGCATTCGGCTGCGCCATCAGCACTGGAGTCTCGTGATGGAGA
GCGTGGTGCCCTCGGACCGCGGCACATACACCTGCCTGGTAGAGAACGCTGTGGGCAGCATCCG
CTATAACTACCTGCTAGATGTGCTGGAGCGGTCCCCGCACCGGCCCATCCTGCAGGCCGGGCTC
CCGGCCAACACCACAGCCGTGGTGGGCAGCGACGTGGAGCTGCTGTGCAAGGTGTACAGCGATG
CCCAGCCCCACATCCAGTGGCTGAAGCACATCGTCATCAACGGCAGCAGCTTCGGAGCCGACGG
TTTCCCCTATGTGCAAGTCCTAAAGACTGCAGACATCAATAGCTCAGAGGTGGAGGTCCTGTAC
CTGCGGAACGTGTCAGCCGAGGACGCAGGCGAGTACACCTGCCTCGCAGGCAATTCCATCGGCC
TCTCCTACCAGTCTGCCTGGCTCACGGTGCTGCCAGAGGAGGACCCCACATGGACCGCAGCAGC
GCCCGAGGCCAGGTATACGGACATCATCCTGTACGCGTCGGGCTCCCTGGCCTTGGCTGTGCTC
CTGCTGCTGGCCGGGCTGTATCGAGGGCAGGCGCTCCACGGCCGGCACCCCCGCCCGCCCGCCA
CTGTGCAGAAGCTCTCCCGCTTCCCTCTGGCCCGACAGTTCTCCCTGGAGTCAGGCTCTTCCGG
CAAGTCAAGCTCATCCCTGGTACGAGGCGTGCGTCTCTCCTCCAGCGGCCCCGCCTTGCTCGCC
GGCCTCGTGAGTCTAGATCTACCTCTCGACCCACTATGGGAGTTCCCCCGGGACAGGCTGGTGC
TTGGGAAGCCCCTAGGCGAGGGCTGCTTTGGCCAGGTAGTACGTGCAGAGGCCTTTGGCATGGA
CCCTGCCCGGCCTGACCAAGCCAGCACTGTGGCCGTCAAGATGCTCAAAGACAACGCCTCTGAC
AAGGACCTGGCCGACCTGGTCTCGGAGATGGAGGTGATGAAGCTGATCGGCCGACACAAGAACA
TCATCAACCTGCTTGGTGTCTGCACCCAGGAAGGGCCCCTGTACGTGATCGTGGAGTGCGCCGC
CAAGGGAAACCTGCGGGAGTTCCTGCGGGCCCGGCGCCCCCCAGGCCCCGACCTCAGCCCCGAC
GGTCCTCGGAGCAGTGAGGGGCCGCTCTCCTTCCCAGTCCTGGTCTCCTGCGCCTACCAGGTGG
CCCGAGGCATGCAGTATCTGGAGTCCCGGAAGTGTATCCACCGGGACCTGGCTGCCCGCAATGT
GCTGGTGACTGAGGACAATGTGATGAAGATTGCTGACTTTGGGCTGGCCCGCGGCGTCCACCAC
ATTGACTACTATAAGAAAACCAGCAACGGCCGCCTGCCTGTGAAGTGGATGGCGCCCGAGGCCT
TGTTTGACCGGGTGTACACACACCAGAGTGACGTGTGGTCTTTTGGGATCCTGCTATGGGAGAT
CTTCACCCTCGGGGGCTCCCCGTATCCTGGCATCCCGGTGGAGGAGCTGTTCTCGCTGCTGCGG
GAGGGACATCGGATGGACCGACCCCCACACTGCCCCCCAGAGCTGTACGGGCTGATGCGTGAGT
GCTGGCACGCAGCGCCCTCCCAGAGGCCTACCTTCAAGCAGCTGGTGGAGGCGCTGGACAAGGT
CCTGCTGGCCGTCTCTGAGGAGTACCTCGACCTCCGCCTGACCTTCGGACCCTATTCCCCCTCT
GGTGGGGACGCCAGCAGCACCTGCTCCTCCAGCGATTCTGTCTTCAGCCACGACCCCCTGCCAT
TGGGATCCAGCTCCTTCCCCTTCGGGTCTGGGGTGCAGACATGAGCAAGGCTCAAGGCTGTGCA
GGCACATAGGCTGGTGGCCTTGGGCCTTGGGGCTCAGCCACAGCCTGACACAGTGCTCGACCTT
GATAGCATGGGGCCCCTGGCCCAGAGTTGCTGTGCCGTGTCCAAGGGCCGTGCCCTTGCCCTTG
GAGCTGCCGTGCCTGTGTCCTGATGGCCCAAATGTCAGGGTTCTGCTCGGCTTCTTGGACCTTG
GCGCTTAGTCCCCATCCCGGGTTTGGCTGAGCCTGGCTGGAGAGCTGCTATGCTAAACCTCCTG
CCTCCCAATACCAGCAGGAGGTTCTGGGCCTCTGAACCCCCTTTCCCCACACCTCCCCCTGCTG
CTGCTGCCCCAGCGTCTTGACGGGAGCATTGGCCCCTGAGCCCAGAGAAGCTGGAAGCCTGCCG
AAAACAGGAGCAAATGGCGTTTTATAAATTATTTTTTTGAAATAAAGCTCTGTGTGCCTGGGAA
AAAAAAAAAAAAAAAAAAAAAAA

hide 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:	show sequence MRLLLALLGVLLSVPGPPVLSLEASEEVELEPCLAPSLEQQEQELTVALGQPVRLCCGRAERGG HWYKEGSRLAPAGRVRGWRGRLEIASFLPEDAGRYLCLARGSMIVLQNLTLITGDSLTSSNDDE DPKSHRDPSNRHSYPQQAPYWTHPQRMEKKLHAVPAGNTVKFRCPAAGNPTPTIRWLKDGQAFH GENRIGGIRLRHQHWSLVMESVVPSDRGTYTCLVENAVGSIRYNYLLDVLERSPHRPILQAGLP ANTTAVVGSDVELLCKVYSDAQPHIQWLKHIVINGSSFGADGFPYVQVLKTADINSSEVEVLYL RNVSAEDAGEYTCLAGNSIGLSYQSAWLTVLPEEDPTWTAAAPEARYTDIILYASGSLALAVLL LLAGLYRGQALHGRHPRPPATVQKLSRFPLARQFSLESGSSGKSSSSLVRGVRLSSSGPALLAG LVSLDLPLDPLWEFPRDRLVLGKPLGEGCFGQVVRAEAFGMDPARPDQASTVAVKMLKDNASDK DLADLVSEMEVMKLIGRHKNIINLLGVCTQEGPLYVIVECAAKGNLREFLRARRPPGPDLSPDG PRSSEGPLSFPVLVSCAYQVARGMQYLESRKCIHRDLAARNVLVTEDNVMKIADFGLARGVHHI DYYKKTSNGRLPVKWMAPEALFDRVYTHQSDVWSFGILLWEIFTLGGSPYPGIPVEELFSLLRE GHRMDRPPHCPPELYGLMRECWHAAPSQRPTFKQLVEALDKVLLAVSEEYLDLRLTFGPYSPSG GDASSTCSSSDSVFSHDPLPLGSSSFPFGSGVQT hide sequence

RefSeq Acc Id:	NP_002002 ⟸ NM_002011
- Peptide Label:	isoform 1 precursor
- UniProtKB:	P22455 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRLLLALLGVLLSVPGPPVLSLEASEEVELEPCLAPSLEQQEQELTVALGQPVRLCCGRAERGG HWYKEGSRLAPAGRVRGWRGRLEIASFLPEDAGRYLCLARGSMIVLQNLTLITGDSLTSSNDDE DPKSHRDPSNRHSYPQQAPYWTHPQRMEKKLHAVPAGNTVKFRCPAAGNPTPTIRWLKDGQAFH GENRIGGIRLRHQHWSLVMESVVPSDRGTYTCLVENAVGSIRYNYLLDVLERSPHRPILQAGLP ANTTAVVGSDVELLCKVYSDAQPHIQWLKHIVINGSSFGADGFPYVQVLKTADINSSEVEVLYL RNVSAEDAGEYTCLAGNSIGLSYQSAWLTVLPEEDPTWTAAAPEARYTDIILYASGSLALAVLL LLAGLYRGQALHGRHPRPPATVQKLSRFPLARQFSLESGSSGKSSSSLVRGVRLSSSGPALLAG LVSLDLPLDPLWEFPRDRLVLGKPLGEGCFGQVVRAEAFGMDPARPDQASTVAVKMLKDNASDK DLADLVSEMEVMKLIGRHKNIINLLGVCTQEGPLYVIVECAAKGNLREFLRARRPPGPDLSPDG PRSSEGPLSFPVLVSCAYQVARGMQYLESRKCIHRDLAARNVLVTEDNVMKIADFGLARGVHHI DYYKKTSNGRLPVKWMAPEALFDRVYTHQSDVWSFGILLWEIFTLGGSPYPGIPVEELFSLLRE GHRMDRPPHCPPELYGLMRECWHAAPSQRPTFKQLVEALDKVLLAVSEEYLDLRLTFGPYSPSG GDASSTCSSSDSVFSHDPLPLGSSSFPFGSGVQT hide sequence

RefSeq Acc Id:	NP_075252 ⟸ NM_022963
- Peptide Label:	isoform 2 precursor
- UniProtKB:	P22455 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRLLLALLGVLLSVPGPPVLSLEASEEVELEPCLAPSLEQQEQELTVALGQPVRLCCGRAERGG HWYKEGSRLAPAGRVRGWRGRLEIASFLPEDAGRYLCLARGSMIVLQNLTLITGDSLTSSNDDE DPKSHRDPSNRHSYPQQAPYWTHPQRMEKKLHAVPAGNTVKFRCPAAGNPTPTIRWLKDGQAFH GENRIGGIRLRHQHWSLVMESVVPSDRGTYTCLVENAVGSIRYNYLLDVLERSPHRPILQAGLP ANTTAVVGSDVELLCKVYSDAQPHIQWLKHIVINGSSFGADGFPYVQVLKTADINSSEVEVLYL RNVSAEDAGEYTCLAGNSIGLSYQSAWLTVLPGTGRIPHLTCDSLTPAGRTKSPTLQFSLESGS SGKSSSSLVRGVRLSSSGPALLAGLVSLDLPLDPLWEFPRDRLVLGKPLGEGCFGQVVRAEAFG MDPARPDQASTVAVKMLKDNASDKDLADLVSEMEVMKLIGRHKNIINLLGVCTQEGPLYVIVEC AAKGNLREFLRARRPPGPDLSPDGPRSSEGPLSFPVLVSCAYQVARGMQYLESRKCIHRDLAAR NVLVTEDNVMKIADFGLARGVHHIDYYKKTSNGRLPVKWMAPEALFDRVYTHQSDVWSFGILLW EIFTLGGSPYPGIPVEELFSLLREGHRMDRPPHCPPELYGLMRECWHAAPSQRPTFKQLVEALD KVLLAVSEEYLDLRLTFGPYSPSGGDASSTCSSSDSVFSHDPLPLGSSSFPFGSGVQT hide 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:	show sequence MRLLLALLGVLLSVPGPPVLSLEASEEVELEPCLAPSLEQQEQELTVALGQPVRLCCGRAERGG HWYKEGSRLAPAGRVRGWRGRLEIASFLPEDAGRYLCLARGSMIVLQNLTLITGDSLTSSNDDE DPKSHRDPSNRHSYPQQAPYWTHPQRMEKKLHAVPAGNTVKFRCPAAGNPTPTIRWLKDGQAFH GENRIGGIRLRHQHWSLVMESVVPSDRGTYTCLVENAVGSIRYNYLLDVLERSPHRPILQAGLP ANTTAVVGSDVELLCKVYSDAQPHIQWLKHIVINGSSFGADGFPYVQVLKTADINSSEVEVLYL RNVSAEDAGEYTCLAGNSIGLSYQSAWLTVLPEEDPTWTAAAPEASSPWSQALPASQAHPWYEA CVSPPAAPPCSPASLVLGKPLGEGCFGQVVRAEAFGMDPARPDQASTVAVKMLKDNASDKDLAD LVSEMEVMKLIGRHKNIINLLGVCTQEGPLYVIVECAAKGNLREFLRARRPPGPDLSPDGPRSS EGPLSFPVLVSCAYQVARGMQYLESRKCIHRDLAARNVLVTEDNVMKIADFGLARGVHHIDYYK KTSNGRLPVKWMAPEALFDRVYTHQSDVWSFGILLWEIFTLGGSPYPGIPVEELFSLLREGHRM DRPPHCPPELYGLMRECWHAAPSQRPTFKQLVEALDKVLLAVSEEYLDLRLTFGPYSPSGGDAS STCSSSDSVFSHDPLPLGSSSFPFGSGVQT hide sequence

RefSeq Acc Id:

NP_001341913 ⟸ NM_001354984

- Peptide Label:

isoform 1 precursor

- Sequence:

show sequence

MRLLLALLGVLLSVPGPPVLSLEASEEVELEPCLAPSLEQQEQELTVALGQPVRLCCGRAERGG
HWYKEGSRLAPAGRVRGWRGRLEIASFLPEDAGRYLCLARGSMIVLQNLTLITGDSLTSSNDDE
DPKSHRDPSNRHSYPQQAPYWTHPQRMEKKLHAVPAGNTVKFRCPAAGNPTPTIRWLKDGQAFH
GENRIGGIRLRHQHWSLVMESVVPSDRGTYTCLVENAVGSIRYNYLLDVLERSPHRPILQAGLP
ANTTAVVGSDVELLCKVYSDAQPHIQWLKHIVINGSSFGADGFPYVQVLKTADINSSEVEVLYL
RNVSAEDAGEYTCLAGNSIGLSYQSAWLTVLPEEDPTWTAAAPEARYTDIILYASGSLALAVLL
LLAGLYRGQALHGRHPRPPATVQKLSRFPLARQFSLESGSSGKSSSSLVRGVRLSSSGPALLAG
LVSLDLPLDPLWEFPRDRLVLGKPLGEGCFGQVVRAEAFGMDPARPDQASTVAVKMLKDNASDK
DLADLVSEMEVMKLIGRHKNIINLLGVCTQEGPLYVIVECAAKGNLREFLRARRPPGPDLSPDG
PRSSEGPLSFPVLVSCAYQVARGMQYLESRKCIHRDLAARNVLVTEDNVMKIADFGLARGVHHI
DYYKKTSNGRLPVKWMAPEALFDRVYTHQSDVWSFGILLWEIFTLGGSPYPGIPVEELFSLLRE
GHRMDRPPHCPPELYGLMRECWHAAPSQRPTFKQLVEALDKVLLAVSEEYLDLRLTFGPYSPSG
GDASSTCSSSDSVFSHDPLPLGSSSFPFGSGVQT

hide 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 Assembly	Chr	Position (strand)	Source
Build 36	5	176,446,364 - 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 Assembly	Chr	Position (strand)	Source
GRCh38	5	177,086,916 - 177,086,976	EPDNEW

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 Assembly	Chr	Position (strand)	Source
GRCh38	5	177,087,367 - 177,087,427	EPDNEW

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

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)