FGF17 (fibroblast growth factor 17)

Gene: FGF17 (fibroblast growth factor 17) Homo sapiens

Analyze

Symbol:

FGF17

Name:

fibroblast growth factor 17

RGD ID:

733951

HGNC Page

HGNC:3673

Description:

Enables type 1 fibroblast growth factor receptor binding activity and type 2 fibroblast growth factor receptor binding activity. Predicted to be involved in several processes, including fibroblast growth factor receptor signaling pathway; positive regulation of cell population proliferation; and positive regulation of macromolecule metabolic process. Predicted to be located in extracellular region. Predicted to be active in cytoplasm and extracellular space. Implicated in hypogonadotropic hypogonadism 20 with or without anosmia.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FGF-13; FGF-17; HH20

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Fgf17 (fibroblast growth factor 17)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Fgf17 (fibroblast growth factor 17)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Fgf17 (fibroblast growth factor 17)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	FGF17 (fibroblast growth factor 17)	NCBI	Ortholog
Canis lupus familiaris (dog):	FGF17 (fibroblast growth factor 17)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Fgf17 (fibroblast growth factor 17)	NCBI	Ortholog
Sus scrofa (pig):	FGF17 (fibroblast growth factor 17)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	FGF17 (fibroblast growth factor 17)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Fgf17 (fibroblast growth factor 17)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Fgf17 (fibroblast growth factor 17)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Fgf17 (fibroblast growth factor 17)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	fgf17 (fibroblast growth factor 17)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	egl-17	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)

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	8	22,039,672 - 22,048,809 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	22,042,398 - 22,048,809 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	21,900,264 - 21,906,320 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	21,956,374 - 21,962,266 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	21,956,373 - 21,961,706	NCBI
Celera	8	20,862,491 - 20,868,383 (+)	NCBI		Celera
Cytogenetic Map	8	p21.3	NCBI
HuRef	8	20,442,983 - 20,448,849 (+)	NCBI		HuRef
CHM1_1	8	22,102,091 - 22,107,983 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	22,313,628 - 22,322,765 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Conotruncal Cardiac Defects (IAGP)

hypogonadotropic hypogonadism 20 with or without anosmia (EXP,IAGP)

hypogonadotropic hypogonadism 7 with or without anosmia (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4,6-trinitrobenzenesulfonic acid (ISO)

4,4'-sulfonyldiphenol (ISO)

Aflatoxin B2 alpha (EXP)

all-trans-retinoic acid (ISO)

ammonium chloride (ISO)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

cefaloridine (ISO)

chlorpyrifos (ISO)

copper atom (EXP)

copper(0) (EXP)

diazinon (EXP,ISO)

dieldrin (ISO)

diethyl maleate (ISO)

fulvestrant (EXP)

genistein (ISO)

N-methyl-4-phenylpyridinium (EXP)

nickel atom (ISO)

silicon dioxide (EXP)

streptozocin (ISO)

Theaflavin 3,3'-digallate (EXP)

valproic acid (EXP)

vanadium atom (EXP)

vanadium(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

animal organ morphogenesis (IBA,IEA)

cell differentiation (IBA,IEA)

cell-cell signaling (TAS)

fibroblast growth factor receptor signaling pathway (IBA,IEA,ISO)

nervous system development (TAS)

positive regulation of cell population proliferation (IBA,IEA,ISO)

positive regulation of gene expression (IBA,IEA)

positive regulation of MAPK cascade (IBA)

positive regulation of protein phosphorylation (IBA,IEA)

regulation of cell migration (IBA,IEA)

signal transduction (TAS)

Cellular Component

cytoplasm (IBA,IEA)

extracellular region (IEA,NAS,TAS)

extracellular space (IBA,IEA,TAS)

Molecular Function

fibroblast growth factor receptor binding (IEA)

growth factor activity (IBA,IEA,TAS)

protein binding (IPI)

type 1 fibroblast growth factor receptor binding (IBA,IDA)

type 2 fibroblast growth factor receptor binding (IBA,IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

fibroblast growth factor signaling pathway (EXP)

melanoma pathway (IEA)

mitogen activated protein kinase signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cardiovascular system morphology (IAGP)

Abnormal morphology of female internal genitalia (IAGP)

Abnormality of body height (IAGP)

Abnormality of the dentition (IAGP)

Abnormality of the sense of smell (IAGP)

Abnormality of the voice (IAGP)

Absence of pubertal development (IAGP)

Absence of secondary sex characteristics (IAGP)

Anosmia (IAGP)

Anterior hypopituitarism (IAGP)

Anxiety (IAGP)

Ataxia (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Azoospermia (IAGP)

Bimanual synkinesia (IAGP)

Breast hypoplasia (IAGP)

Camptodactyly (IAGP)

Cleft palate (IAGP)

Color vision defect (IAGP)

Congenital sensorineural hearing impairment (IAGP)

Cryptorchidism (IAGP)

Decreased fertility (IAGP)

Decreased serum testosterone concentration (IAGP)

Decreased testicular size (IAGP)

Delayed puberty (IAGP)

Delayed skeletal maturation (IAGP)

Depressed nasal bridge (IAGP)

Depression (IAGP)

Dysarthria (IAGP)

Dyspareunia (IAGP)

Erectile dysfunction (IAGP)

Eunuchoid habitus (IAGP)

Female hypogonadism (IAGP)

Gait disturbance (IAGP)

Generalized joint hypermobility (IAGP)

Gynecomastia (IAGP)

Hypertelorism (IAGP)

Hypogonadism (IAGP)

Hypogonadotropic hypogonadism (IAGP)

Hypoplasia of penis (IAGP)

Hypoplasia of the ovary (IAGP)

Hypoplasia of the uterus (IAGP)

Hyposmia (IAGP)

Hypothalamic gonadotropin-releasing hormone deficiency (IAGP)

Hypotonia (IAGP)

Ichthyosis (IAGP)

Impotence (IAGP)

Increased female libido (IAGP)

Infertility (IAGP)

Juvenile onset (IAGP)

Male hypogonadism (IAGP)

Micropenis (IAGP)

Muscle weakness (IAGP)

Non-obstructive azoospermia (IAGP)

Nystagmus (IAGP)

Obesity (IAGP)

Osteopenia (IAGP)

Osteoporosis (IAGP)

Paraplegia (IAGP)

Pes cavus (IAGP)

Pes planus (IAGP)

Phenotypic abnormality (IAGP)

Primary amenorrhea (IAGP)

Ptosis (IAGP)

Recurrent fractures (IAGP)

Reduced bone mineral density (IAGP)

Renal agenesis (IAGP)

Secondary amenorrhea (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Skeletal dysplasia (IAGP)

Sparse axillary hair (IAGP)

Sparse body hair (IAGP)

Sparse pubic hair (IAGP)

Tooth agenesis (IAGP)

Tremor (IAGP)

Visual impairment (IAGP)

Wide intermamillary distance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Identification and characterization of a novel member of the fibroblast growth factor family.	Greene JM, etal., Eur J Neurosci 1998 May;10(5):1911-25.
3.	Structure and expression of a novel fibroblast growth factor, FGF-17, preferentially expressed in the embryonic brain.	Hoshikawa M, etal., Biochem Biophys Res Commun 1998 Mar 6;244(1):187-91.
4.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
5.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
6.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
9.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:1697263	PMID:8889548	PMID:9045692	PMID:9139660	PMID:10381577	PMID:10579907	PMID:10751172	PMID:11294897	PMID:12477932	PMID:12975309	PMID:14702039	PMID:15129425
PMID:15199049	PMID:15489334	PMID:16384934	PMID:16597617	PMID:17133345	PMID:18199118	PMID:19122663	PMID:20301509	PMID:21048031	PMID:21319186	PMID:21484435	PMID:21873635
PMID:23643382	PMID:25912421	PMID:30021884	PMID:32296183	PMID:32513696	PMID:33961781	PMID:34731724

Genomics

Comparative Map Data

FGF17
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	22,039,672 - 22,048,809 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	22,042,398 - 22,048,809 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	21,900,264 - 21,906,320 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	21,956,374 - 21,962,266 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	21,956,373 - 21,961,706	NCBI
Celera	8	20,862,491 - 20,868,383 (+)	NCBI		Celera
Cytogenetic Map	8	p21.3	NCBI
HuRef	8	20,442,983 - 20,448,849 (+)	NCBI		HuRef
CHM1_1	8	22,102,091 - 22,107,983 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	22,313,628 - 22,322,765 (+)	NCBI		T2T-CHM13v2.0

Fgf17
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	70,873,643 - 70,880,064 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	70,873,643 - 70,879,708 (-)	Ensembl		GRCm39 Ensembl
GRCm38	14	70,636,203 - 70,642,268 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	70,636,203 - 70,642,268 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	71,036,012 - 71,042,075 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	69,371,285 - 69,377,348 (-)	NCBI		MGSCv36	mm8
Celera	14	68,179,512 - 68,185,682 (-)	NCBI		Celera
Cytogenetic Map	14	D2	NCBI
cM Map	14	36.4	NCBI

Fgf17
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	52,118,141 - 52,132,083 (-)	NCBI		GRCr8
mRatBN7.2	15	45,711,498 - 45,717,622 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	45,711,998 - 45,717,063 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	49,829,848 - 49,834,911 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	50,941,365 - 50,946,428 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	47,800,670 - 47,805,734 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	52,326,758 - 52,337,360 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	52,326,778 - 52,332,097 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	56,049,808 - 56,055,493 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	51,038,529 - 51,044,118 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	51,054,308 - 51,059,898 (-)	NCBI
Celera	15	45,390,057 - 45,395,484 (-)	NCBI		Celera
Cytogenetic Map	15	p11	NCBI

Fgf17
(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_004955403	45,544,114 - 45,548,659 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955403	45,544,114 - 45,548,659 (+)	NCBI	ChiLan1.0	ChiLan1.0

FGF17
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	7	40,538,730 - 40,550,535 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	16,263,865 - 16,275,668 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	21,284,451 - 21,293,633 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	18,224,453 - 18,233,537 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	18,224,461 - 18,233,537 (+)	Ensembl	panpan1.1		panPan2

FGF17
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	25	35,194,400 - 35,204,787 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	25	35,194,394 - 35,199,792 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	25	35,783,130 - 35,793,596 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	25	35,405,126 - 35,415,594 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	25	35,405,682 - 35,410,726 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	25	35,350,337 - 35,360,800 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	25	35,204,933 - 35,215,394 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	25	35,360,428 - 35,370,894 (-)	NCBI		UU_Cfam_GSD_1.0

Fgf17
(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_Itri_2	NW_024404943	12,692,407 - 12,698,035 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936555	5,872,586 - 5,878,099 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936555	5,869,156 - 5,877,674 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FGF17
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	6,309,735 - 6,315,882 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	6,310,840 - 6,315,465 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	6,751,877 - 6,756,921 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FGF17
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	8	20,111,858 - 20,119,785 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	20,116,561 - 20,119,746 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666052	22,117,095 - 22,119,760 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fgf17
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624758	17,634,994 - 17,640,560 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624758	17,634,606 - 17,640,590 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FGF17
45 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_003867.4(FGF17):c.323T>C (p.Ile108Thr)	single nucleotide variant	Hypogonadotropic hypogonadism 20 with or without anosmia [RCV000043598]	Chr8:22046599 [GRCh38] Chr8:21904110 [GRCh37] Chr8:8p21.3	risk factor
NM_003867.4(FGF17):c.530G>A (p.Arg177His)	single nucleotide variant	Hypogonadotropic hypogonadism 20 without anosmia [RCV000043599]	Chr8:22048128 [GRCh38] Chr8:21905639 [GRCh37] Chr8:8p21.3	pathogenic
NM_003867.4(FGF17):c.560A>G (p.Asn187Ser)	single nucleotide variant	Hypogonadotropic hypogonadism 20 with or without anosmia [RCV000043600]	Chr8:22048158 [GRCh38] Chr8:21905669 [GRCh37] Chr8:8p21.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000050294]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000050297]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.3-21.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000050912]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	copy number gain	See cases [RCV000051145]	Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	copy number gain	See cases [RCV000051110]	Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	copy number gain	See cases [RCV000053629]	Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	copy number gain	See cases [RCV000053630]	Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|See cases [RCV000053631]	Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	copy number gain	See cases [RCV000053632]	Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	copy number gain	See cases [RCV000053633]	Chr8:12750796..29445409 [GRCh38] Chr8:12608305..29302926 [GRCh37] Chr8:12652676..29358845 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	copy number gain	See cases [RCV000053635]	Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21	pathogenic
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	copy number gain	See cases [RCV000053636]	Chr8:21654619..23001935 [GRCh38] Chr8:21512131..22859448 [GRCh37] Chr8:21556411..22915393 [NCBI36] Chr8:8p21.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	copy number gain	See cases [RCV000053599]	Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]\|See cases [RCV000054236]	Chr8:21482945..22853239 [GRCh38] Chr8:21340456..22710752 [GRCh37] Chr8:21384736..22766697 [NCBI36] Chr8:8p21.3	pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	copy number gain	Abnormal fetal cardiovascular morphology [RCV001291977]	Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	copy number gain	See cases [RCV000135786]	Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	copy number gain	See cases [RCV000135566]	Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	copy number gain	See cases [RCV000136516]	Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	copy number gain	See cases [RCV000136026]	Chr8:241605..24656971 [GRCh38] Chr8:191605..24514484 [GRCh37] Chr8:181605..24570374 [NCBI36] Chr8:8p23.3-21.2	pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	copy number gain	See cases [RCV000135967]	Chr8:241530..23198398 [GRCh38] Chr8:191530..23055911 [GRCh37] Chr8:181530..23111856 [NCBI36] Chr8:8p23.3-21.3	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	copy number gain	See cases [RCV000136825]	Chr8:12725750..30180521 [GRCh38] Chr8:12583259..30038037 [GRCh37] Chr8:12627630..30157579 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	copy number gain	See cases [RCV000137249]	Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	copy number gain	See cases [RCV000138058]	Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	copy number gain	See cases [RCV000137807]	Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	copy number gain	See cases [RCV000138831]	Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	copy number gain	See cases [RCV000138244]	Chr8:12382844..28625564 [GRCh38] Chr8:12240353..28483081 [GRCh37] Chr8:12284724..28539000 [NCBI36] Chr8:8p23.1-21.1	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	copy number gain	See cases [RCV000139891]	Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	copy number gain	See cases [RCV000139770]	Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	copy number gain	See cases [RCV000139796]	Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	copy number gain	See cases [RCV000139549]	Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	copy number gain	See cases [RCV000141410]	Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	copy number loss	See cases [RCV000142516]	Chr8:12383584..29033946 [GRCh38] Chr8:12241093..28891463 [GRCh37] Chr8:12285464..28947382 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	copy number loss	See cases [RCV000142747]	Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	copy number gain	See cases [RCV000143508]	Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000148249]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000148237]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000148252]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.2-21.1	pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	copy number gain	See cases [RCV000203434]	Chr8:20478546..28986438 [GRCh37] Chr8:8p21.3-12	pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	copy number gain	See cases [RCV000511325]	Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	copy number gain	See cases [RCV000239945]	Chr8:12580132..26774307 [GRCh37] Chr8:8p23.1-21.2	pathogenic
Single allele	complex	8p inverted duplication/deletion syndrome [RCV002280753]	Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3	copy number gain	See cases [RCV000449225]	Chr8:158048..30262760 [GRCh37] Chr8:8p23.3-12	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	copy number loss	See cases [RCV000447428]	Chr8:13091530..24483615 [GRCh37] Chr8:8p22-21.2	pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3	copy number gain	See cases [RCV000447909]	Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	copy number gain	See cases [RCV000447913]	Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4	copy number gain	See cases [RCV000510404]	Chr8:21521340..22492009 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	copy number loss	not provided [RCV000509389]	Chr8:16992973..32612724 [GRCh37] Chr8:8p22-12	not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	copy number gain	See cases [RCV000510571]	Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	copy number gain	See cases [RCV000511028]	Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	copy number gain	See cases [RCV000510899]	Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
Single allele	duplication	not provided [RCV000768452]	Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12	likely pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	copy number gain	Autism [RCV000626542]	Chr8:12580104..25947329 [GRCh37] Chr8:8p23.1-21.2	pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	copy number gain	not provided [RCV000683042]	Chr8:1825200..24533193 [GRCh37] Chr8:8p23.3-21.2	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	copy number gain	not provided [RCV000683041]	Chr8:8770948..27079636 [GRCh37] Chr8:8p23.1-21.2	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	copy number gain	not provided [RCV000683043]	Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	copy number gain	not provided [RCV000762735]	Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12	likely pathogenic
NM_003867.4(FGF17):c.72+7G>A	single nucleotide variant	not provided [RCV000921538]	Chr8:22043188 [GRCh38] Chr8:21900699 [GRCh37] Chr8:8p21.3	benign
NM_003867.4(FGF17):c.87G>T (p.Pro29=)	single nucleotide variant	not provided [RCV000905259]	Chr8:22046128 [GRCh38] Chr8:21903639 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.597C>T (p.Gly199=)	single nucleotide variant	not provided [RCV000950167]\|not specified [RCV001818961]	Chr8:22048195 [GRCh38] Chr8:21905706 [GRCh37] Chr8:8p21.3	benign\|likely benign
NM_003867.4(FGF17):c.345G>A (p.Lys115=)	single nucleotide variant	not provided [RCV000920131]	Chr8:22046621 [GRCh38] Chr8:21904132 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.12C>A (p.Ala4=)	single nucleotide variant	not provided [RCV000925314]	Chr8:22042940 [GRCh38] Chr8:21900451 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.572A>G (p.Lys191Arg)	single nucleotide variant	not provided [RCV000975948]	Chr8:22048170 [GRCh38] Chr8:21905681 [GRCh37] Chr8:8p21.3	likely benign
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	copy number loss	not provided [RCV000849161]	Chr8:21662847..24199218 [GRCh37] Chr8:8p21.3-21.2	pathogenic
GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1	copy number loss	not provided [RCV000846265]	Chr8:21077580..22144930 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	copy number gain	not provided [RCV000847279]	Chr8:20564910..22629124 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3	copy number gain	not provided [RCV000846113]	Chr8:21717395..22395625 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3	copy number gain	not provided [RCV000846785]	Chr8:21840451..22037635 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_003867.4(FGF17):c.35+31C>G	single nucleotide variant	not provided [RCV001687289]	Chr8:22042994 [GRCh38] Chr8:21900505 [GRCh37] Chr8:8p21.3	benign
NM_003867.4(FGF17):c.73-190C>T	single nucleotide variant	not provided [RCV001558471]	Chr8:22045924 [GRCh38] Chr8:21903435 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.159C>T (p.Arg53=)	single nucleotide variant	not provided [RCV000908054]	Chr8:22046200 [GRCh38] Chr8:21903711 [GRCh37] Chr8:8p21.3	benign
NM_003867.4(FGF17):c.251-9C>A	single nucleotide variant	not provided [RCV000906587]	Chr8:22046518 [GRCh38] Chr8:21904029 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.73-309G>A	single nucleotide variant	not provided [RCV001540647]	Chr8:22045805 [GRCh38] Chr8:21903316 [GRCh37] Chr8:8p21.3	benign
NM_003867.4(FGF17):c.-38G>A	single nucleotide variant	not provided [RCV001546181]	Chr8:22042891 [GRCh38] Chr8:21900402 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.339G>A (p.Arg113=)	single nucleotide variant	not provided [RCV001718328]	Chr8:22046615 [GRCh38] Chr8:21904126 [GRCh37] Chr8:8p21.3	benign
NM_003867.4(FGF17):c.72+57C>T	single nucleotide variant	not provided [RCV001590872]	Chr8:22043238 [GRCh38] Chr8:21900749 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.*12G>C	single nucleotide variant	not provided [RCV001669503]	Chr8:22048261 [GRCh38] Chr8:21905772 [GRCh37] Chr8:8p21.3	benign
NM_003867.4(FGF17):c.357+68T>C	single nucleotide variant	not provided [RCV001717489]	Chr8:22046701 [GRCh38] Chr8:21904212 [GRCh37] Chr8:8p21.3	benign
NC_000008.11:g.22042640T>A	single nucleotide variant	not provided [RCV001648997]	Chr8:22042640 [GRCh38] Chr8:21900151 [GRCh37] Chr8:8p21.3	benign
NM_003867.4(FGF17):c.72+65A>G	single nucleotide variant	not provided [RCV001652068]	Chr8:22043246 [GRCh38] Chr8:21900757 [GRCh37] Chr8:8p21.3	benign
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	copy number gain	not provided [RCV001260030]	Chr8:12528482..29886483 [GRCh37] Chr8:8p23.1-12	likely pathogenic
GRCh37/hg19 8p21.3(chr8:21303187-22230498)	copy number gain	not specified [RCV002053755]	Chr8:21303187..22230498 [GRCh37] Chr8:8p21.3	uncertain significance
NC_000008.10:g.(?_21900440)_(23564111_?)dup	duplication	Conotruncal heart malformations [RCV003107885]\|not provided [RCV001928022]	Chr8:21900440..23564111 [GRCh37] Chr8:8p21.3-21.2	uncertain significance\|no classifications from unflagged records
NM_003867.4(FGF17):c.614G>A (p.Arg205Gln)	single nucleotide variant	not provided [RCV001939996]	Chr8:22048212 [GRCh38] Chr8:21905723 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.250+7G>A	single nucleotide variant	not provided [RCV002124647]	Chr8:22046298 [GRCh38] Chr8:21903809 [GRCh37] Chr8:8p21.3	benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	copy number gain	not provided [RCV002279745]	Chr8:19779604..26531980 [GRCh37] Chr8:8p21.3-21.2	pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	copy number loss	See cases [RCV002286343]	Chr8:158048..30187456 [GRCh37] Chr8:8p23.3-12	pathogenic
Single allele	complex	See cases [RCV002292428]	Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21	pathogenic
NM_003867.4(FGF17):c.518A>G (p.His173Arg)	single nucleotide variant	not provided [RCV003015730]	Chr8:22048116 [GRCh38] Chr8:21905627 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.222C>T (p.Ser74=)	single nucleotide variant	not provided [RCV002979782]	Chr8:22046263 [GRCh38] Chr8:21903774 [GRCh37] Chr8:8p21.3	benign
NM_003867.4(FGF17):c.207C>T (p.Thr69=)	single nucleotide variant	not provided [RCV002705427]	Chr8:22046248 [GRCh38] Chr8:21903759 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.73-6G>A	single nucleotide variant	not provided [RCV002701121]	Chr8:22046108 [GRCh38] Chr8:21903619 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.14G>A (p.Arg5His)	single nucleotide variant	not specified [RCV004153120]	Chr8:22042942 [GRCh38] Chr8:21900453 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.73-7C>T	single nucleotide variant	not provided [RCV002596106]	Chr8:22046107 [GRCh38] Chr8:21903618 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.35+15T>A	single nucleotide variant	not provided [RCV002765805]	Chr8:22042978 [GRCh38] Chr8:21900489 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.132C>T (p.Thr44=)	single nucleotide variant	not provided [RCV003084804]	Chr8:22046173 [GRCh38] Chr8:21903684 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.13C>T (p.Arg5Cys)	single nucleotide variant	not specified [RCV004137136]	Chr8:22042941 [GRCh38] Chr8:21900452 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.212G>A (p.Arg71His)	single nucleotide variant	not specified [RCV004168288]	Chr8:22046253 [GRCh38] Chr8:21903764 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.592G>T (p.Val198Leu)	single nucleotide variant	not specified [RCV004137207]	Chr8:22048190 [GRCh38] Chr8:21905701 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.357+16T>C	single nucleotide variant	not provided [RCV002814303]	Chr8:22046649 [GRCh38] Chr8:21904160 [GRCh37] Chr8:8p21.3	likely benign
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	copy number loss	Microcephaly [RCV003327707]	Chr8:12721809..30183737 [GRCh38] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	copy number loss	Neurodevelopmental disorder [RCV003327729]	Chr8:449893..23854904 [GRCh38] Chr8:8p23.3-21.2	pathogenic
NM_003867.4(FGF17):c.241A>G (p.Asn81Asp)	single nucleotide variant	not specified [RCV004363274]	Chr8:22046282 [GRCh38] Chr8:21903793 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.257T>C (p.Leu86Pro)	single nucleotide variant	not specified [RCV004351455]	Chr8:22046533 [GRCh38] Chr8:21904044 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.599C>A (p.Ser200Tyr)	single nucleotide variant	not provided [RCV003332806]	Chr8:22048197 [GRCh38] Chr8:21905708 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	copy number loss	not provided [RCV003483018]	Chr8:12490999..28150620 [GRCh37] Chr8:8p23.1-21.1	pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	copy number gain	not provided [RCV003484713]	Chr8:2201405..41723095 [GRCh37] Chr8:8p23.2-11.21	pathogenic
Single allele	duplication	not provided [RCV003448693]	Chr8:12530550..43483193 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	copy number gain	not provided [RCV003484722]	Chr8:11945856..37902453 [GRCh37] Chr8:8p23.1-11.23	pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	copy number gain	not provided [RCV003484724]	Chr8:12560782..38748763 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	copy number gain	not provided [RCV003484725]	Chr8:14240573..43824035 [GRCh37] Chr8:8p22-11.1	pathogenic
Single allele	duplication	not provided [RCV003448690]	Chr8:20868762..22701502 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.351C>T (p.Ile117=)	single nucleotide variant	not provided [RCV003436787]	Chr8:22046627 [GRCh38] Chr8:21904138 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.287G>A (p.Arg96Gln)	single nucleotide variant	FGF17-related condition [RCV003402242]	Chr8:22046563 [GRCh38] Chr8:21904074 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.634C>T (p.Pro212Ser)	single nucleotide variant	not provided [RCV003825678]	Chr8:22048232 [GRCh38] Chr8:21905743 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.630G>T (p.Arg210=)	single nucleotide variant	not provided [RCV003545095]	Chr8:22048228 [GRCh38] Chr8:21905739 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.359C>A (p.Pro120His)	single nucleotide variant	not provided [RCV003665043]	Chr8:22047957 [GRCh38] Chr8:21905468 [GRCh37] Chr8:8p21.3	uncertain significance
NM_003867.4(FGF17):c.237C>T (p.Asp79=)	single nucleotide variant	not provided [RCV003733784]	Chr8:22046278 [GRCh38] Chr8:21903789 [GRCh37] Chr8:8p21.3	likely benign
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	copy number gain	not specified [RCV003986756]	Chr8:158048..41600696 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	copy number gain	not specified [RCV003986767]	Chr8:20136266..43786723 [GRCh37] Chr8:8p21.3-11.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_003867.4(FGF17):c.444C>T (p.Gly148=)	single nucleotide variant	not provided [RCV003676679]	Chr8:22048042 [GRCh38] Chr8:21905553 [GRCh37] Chr8:8p21.3	likely benign
NM_003867.4(FGF17):c.541G>A (p.Gly181Ser)	single nucleotide variant	not specified [RCV004394038]	Chr8:22048139 [GRCh38] Chr8:21905650 [GRCh37] Chr8:8p21.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1821
Count of miRNA genes:	677
Interacting mature miRNAs:	821
Transcripts:	ENST00000359441, ENST00000518533, ENST00000521709, ENST00000524314
Prediction methods:	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

adipose tissue

appendage

entire extraembryonic component

High

Medium

585

1413

407

Low

1441

1430

755

230

467

104

2482

586

2161

166

1147

926

127

678

1589

Below cutoff

931

1484

316

333

1114

301

1670

1495

122

161

165

194

524

1107

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001304478	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005273675	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544683	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011544685	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB009249	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC091171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF497475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC105131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC113489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM666883	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DR159037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000359441 ⟹ ENSP00000352414

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,042,820 - 22,048,809 (+)	Ensembl

RefSeq Acc Id:

ENST00000518533 ⟹ ENSP00000431041

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,042,398 - 22,048,806 (+)	Ensembl

RefSeq Acc Id:

ENST00000521709

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,044,569 - 22,048,159 (+)	Ensembl

RefSeq Acc Id:

ENST00000524314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,044,672 - 22,048,806 (+)	Ensembl

RefSeq Acc Id:

NM_001304478 ⟹ NP_001291407

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,042,753 - 22,048,809 (+)	NCBI
CHM1_1	8	22,101,927 - 22,107,983 (+)	NCBI
T2T-CHM13v2.0	8	22,316,709 - 22,322,765 (+)	NCBI

Sequence:

show sequence

CCCCTCCTCCTCCCTCTTTTCTCTCCTCCTCCTCCCCTTTCTCTCCTCCTCGCCCCCCTGAAAA
CCTGTGGCTCGGAGAGACCTTGGCTTCTCTGGGACTCTACCCCTGGGGACTTCCCACATCTGCT
CCTGAGCTTGGGGGCAGGGGGGCAACCGCCTGAGGAACCTCTCCAGCGATGGGAGCCGCCCGCC
TGCTGCCCAACCTCACTCTGTGCTTACAGCTGCTGATTCTCTGCTGTCAAACTCAGTACGTGAG
GGACCAGGGCGCCATGACCGACCAGCTGAGCAGGCGGCAGATCCGCGAGTACCAACTCTACAGC
AGGACCAGTGGCAAGCACGTGCAGGTCACCGGGCGTCGCATCTCCGCCACCGCCGAGGACGGCA
ACAAGTTTGCCAAGCTCATAGTGGAGACGGACACGTTTGGCAGCCGGGTTCGCATCAAAGGGGC
TGAGAGTGAGAAGTACATCTGTATGAACAAGAGGGGCAAGCTCATCGGGAAGCCCAGCGGGAAG
AGCAAAGACTGCGTGTTCACGGAGATCGTGCTGGAGAACAACTATACGGCCTTCCAGAACGCCC
GGCACGAGGGCTGGTTCATGGCCTTCACGCGGCAGGGGCGGCCCCGCCAGGCTTCCCGCAGCCG
CCAGAACCAGCGCGAGGCCCACTTCATCAAGCGCCTCTACCAAGGCCAGCTGCCCTTCCCCAAC
CACGCCGAGAAGCAGAAGCAGTTCGAGTTTGTGGGCTCCGCCCCCACCCGCCGGACCAAGCGCA
CACGGCGGCCCCAGCCCCTCACGTAGTCTGGGAGGCAGGGGGCAGCAGCCCCTGGGCCGCCTCC
CCACCCCTTTCCCTTCTTAATCCAAGGACTGGGCTGGGGTGGCGGGAGGGGAGCCAGATCCCCG
AGGGAGGACCCTGAGGGCCGCGAAGCATCCGAGCCCCCAGCTGGGAAGGGGCAGGCCGGTGCCC
CAGGGGCGGCTGGCACAGTGCCCCCTTCCCGGACGGGTGGCAGGCCCTGGAGAGGAACTGAGTG
TCACCCTGATCTCAGGCCACCAGCCTCTGCCGGCCTCCCAGCCGGGCTCCTGAAGCCCGCTGAA
AGGTCAGCGACTGAAGGCCTTGCAGACAACCGTCTGGAGGTGGCTGTCCTCAAAATCTGCTTCT
CGGATCTCCCTCAGTCTGCCCCCAGCCCCCAAACTCCTCCTGGCTAGACTGTAGGAAGGGACTT
TTGTTTGTTTGTTTGTTTCAGGAAAAAAGAAAGGGAGAGAGAGGAAAATAGAGGGTTGTCCACT
CCTCACATTCCACGACCCAGGCCTGCACCCCACCCCCAACTCCCAGCCCCGGAATAAAACCATT
TTCCTGCAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_003867 ⟹ NP_003858

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,042,820 - 22,048,809 (+)	NCBI
GRCh37	8	21,900,264 - 21,906,320 (+)	NCBI
Build 36	8	21,956,374 - 21,962,266 (+)	NCBI Archive
HuRef	8	20,442,983 - 20,448,849 (+)	ENTREZGENE
CHM1_1	8	22,101,927 - 22,107,983 (+)	NCBI
T2T-CHM13v2.0	8	22,316,776 - 22,322,765 (+)	NCBI

Sequence:

show sequence

GTGGCTCGGAGAGACCTTGGCTTCTCTGGGACTCTACCCCTGGGGACTTCCCACATCTGCTCCT
GAGCTTGGGGGCAGGGGGGCAACCGCCTGAGGAACCTCTCCAGCGATGGGAGCCGCCCGCCTGC
TGCCCAACCTCACTCTGTGCTTACAGCTGCTGATTCTCTGCTGTCAAACTCAGGGGGAGAATCA
CCCGTCTCCTAATTTTAACCAGTACGTGAGGGACCAGGGCGCCATGACCGACCAGCTGAGCAGG
CGGCAGATCCGCGAGTACCAACTCTACAGCAGGACCAGTGGCAAGCACGTGCAGGTCACCGGGC
GTCGCATCTCCGCCACCGCCGAGGACGGCAACAAGTTTGCCAAGCTCATAGTGGAGACGGACAC
GTTTGGCAGCCGGGTTCGCATCAAAGGGGCTGAGAGTGAGAAGTACATCTGTATGAACAAGAGG
GGCAAGCTCATCGGGAAGCCCAGCGGGAAGAGCAAAGACTGCGTGTTCACGGAGATCGTGCTGG
AGAACAACTATACGGCCTTCCAGAACGCCCGGCACGAGGGCTGGTTCATGGCCTTCACGCGGCA
GGGGCGGCCCCGCCAGGCTTCCCGCAGCCGCCAGAACCAGCGCGAGGCCCACTTCATCAAGCGC
CTCTACCAAGGCCAGCTGCCCTTCCCCAACCACGCCGAGAAGCAGAAGCAGTTCGAGTTTGTGG
GCTCCGCCCCCACCCGCCGGACCAAGCGCACACGGCGGCCCCAGCCCCTCACGTAGTCTGGGAG
GCAGGGGGCAGCAGCCCCTGGGCCGCCTCCCCACCCCTTTCCCTTCTTAATCCAAGGACTGGGC
TGGGGTGGCGGGAGGGGAGCCAGATCCCCGAGGGAGGACCCTGAGGGCCGCGAAGCATCCGAGC
CCCCAGCTGGGAAGGGGCAGGCCGGTGCCCCAGGGGCGGCTGGCACAGTGCCCCCTTCCCGGAC
GGGTGGCAGGCCCTGGAGAGGAACTGAGTGTCACCCTGATCTCAGGCCACCAGCCTCTGCCGGC
CTCCCAGCCGGGCTCCTGAAGCCCGCTGAAAGGTCAGCGACTGAAGGCCTTGCAGACAACCGTC
TGGAGGTGGCTGTCCTCAAAATCTGCTTCTCGGATCTCCCTCAGTCTGCCCCCAGCCCCCAAAC
TCCTCCTGGCTAGACTGTAGGAAGGGACTTTTGTTTGTTTGTTTGTTTCAGGAAAAAAGAAAGG
GAGAGAGAGGAAAATAGAGGGTTGTCCACTCCTCACATTCCACGACCCAGGCCTGCACCCCACC
CCCAACTCCCAGCCCCGGAATAAAACCATTTTCCTGCAAA

hide sequence

RefSeq Acc Id:

XM_005273675 ⟹ XP_005273732

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,044,549 - 22,048,809 (+)	NCBI
GRCh37	8	21,900,264 - 21,906,320 (+)	NCBI

Sequence:

show sequence

CCAGGGTGGGGCGAGGGGCAGGTCTTGCAGAGGCTAGGCAGAGGCTGCTCTATGGGGAGGTGCA
ATTGGAAATGAGCAACGGTGCACAGTAAGTGTTAACCCCGCGCAGGTTAAATGTCCAGCTCTGA
GAGCTGCTCCCTCACTCCCCCTGCCTCAAAGGTGATATTTCCCACCCCCTCCCTAGGAGAGAGT
AGCCCCTAACAGATGCTAATCTGGGTCTAGCTCTGTCCAGATGGCTGAGGTTGGGCCTGGGATA
AAGGTGGAATTAGGGATTTGGGGCAGGGGCTGAGAAAAGCTGTCCCAGCACAGGCAGCGGCATC
CAGGTGGAGACAAAACCAGCAAAAAAGGTACATTCTCATGCTAGAGCTGAGGCTGTTGCCAGGA
GCCAGGAAACCTAGCCCGGGTCGCACCTTGCAGGATGGAGGGGAAGAAGTACTCAGTCTCTCCC
ACTCAGCCTTACAGATGGGTAACGAGAGACCTAGCTGGGAGGCGGTACTCCTCCTGGCTTTGCA
CAGTGCGTGGGGGGAAATGGTTCCTCTCCCCCAACCCAAAGGGGAAGCAGGTGGGCGGGCGCAT
CCCACCAACTGGCCAGGAGCCTCTGTTACATTGTGGCTAAGGAGCTGCCTGCCAGGGGCAGCCA
TTGGGCCACCGCTGATAGTGCCTGTCCTCTTGGTACTGCCTCTGCCTCCCTCCGCTAAGGAGGC
ACCTTGCCTGCCTGCTGTCCCATAGTGCCCAGCCCCAGCCCCAGCCCCAGCTCCAGCCCATAGA
GGAGGGAGGAACACTGGAAGGGCCCTGAGCACCAGGGGGCAAGGCCGGGAAGAAGATGGGTATG
AGCTCAGGATTCCACAGTTAGTGCTTCAAAGAAATGCTCATGGGACCCTGCAGGAGCTTTCAGA
GTCCCCCACATGCTCTCTGGTGACCCTAACTCGCAGCACCATCTGCTCTGTGCCCGTGTGCTGG
GCAAGGGGTCTTTCAAGGCCAGTGGGGAGGATGAGGAAGGAATCTGGTTGTCCTGGCTAATGGA
GCATGTCCTTGGAGTTCTGGGGGAGATGACAGGCTCTGGTCTAAGAGGTAGGGACAGGGGTTCT
GTCCCTAATGAGCTGTGTGCCCCGTGCACCTCCTTCATAGAATACGAGGACGGGATAGAACCCT
GAGGGCTCCTTCCAGCTCCCAGAGTCCTGATTCCAGGGCTGTGCTCTGTCAATAAGTGTCCCCC
AGCCTGGGCAGACCCCAGTCCCTTCTGTAAGGTAGACGCAAAGCAAAGAGGTTATGACCGGCTC
ACCCAGGGGCCTGGGAAGGCTATGGCCATATGCCCACTTCACTCTGCAGGACAAGTGGCCTGTC
CCCACTATATTCACCTCCTCACCCCTCTCCCTTGGATGGACCAGTGGTGGTGTCACCCAAAGCA
AATTGACACTATTTTTCCCTTGGTAACCGCAAAGGGGGAGAATCACCCGTCTCCTAATTTTAAC
CAGTACGTGAGGGACCAGGGCGCCATGACCGACCAGCTGAGCAGGCGGCAGATCCGCGAGTACC
AACTCTACAGCAGGACCAGTGGCAAGCACGTGCAGGTCACCGGGCGTCGCATCTCCGCCACCGC
CGAGGACGGCAACAAGTTTGCCAAGCTCATAGTGGAGACGGACACGTTTGGCAGCCGGGTTCGC
ATCAAAGGGGCTGAGAGTGAGAAGTACATCTGTATGAACAAGAGGGGCAAGCTCATCGGGAAGC
CCAGCGGGAAGAGCAAAGACTGCGTGTTCACGGAGATCGTGCTGGAGAACAACTATACGGCCTT
CCAGAACGCCCGGCACGAGGGCTGGTTCATGGCCTTCACGCGGCAGGGGCGGCCCCGCCAGGCT
TCCCGCAGCCGCCAGAACCAGCGCGAGGCCCACTTCATCAAGCGCCTCTACCAAGGCCAGCTGC
CCTTCCCCAACCACGCCGAGAAGCAGAAGCAGTTCGAGTTTGTGGGCTCCGCCCCCACCCGCCG
GACCAAGCGCACACGGCGGCCCCAGCCCCTCACGTAGTCTGGGAGGCAGGGGGCAGCAGCCCCT
GGGCCGCCTCCCCACCCCTTTCCCTTCTTAATCCAAGGACTGGGCTGGGGTGGCGGGAGGGGAG
CCAGATCCCCGAGGGAGGACCCTGAGGGCCGCGAAGCATCCGAGCCCCCAGCTGGGAAGGGGCA
GGCCGGTGCCCCAGGGGCGGCTGGCACAGTGCCCCCTTCCCGGACGGGTGGCAGGCCCTGGAGA
GGAACTGAGTGTCACCCTGATCTCAGGCCACCAGCCTCTGCCGGCCTCCCAGCCGGGCTCCTGA
AGCCCGCTGAAAGGTCAGCGACTGAAGGCCTTGCAGACAACCGTCTGGAGGTGGCTGTCCTCAA
AATCTGCTTCTCGGATCTCCCTCAGTCTGCCCCCAGCCCCCAAACTCCTCCTGGCTAGACTGTA
GGAAGGGACTTTTGTTTGTTTGTTTGTTTCAGGAAAAAAGAAAGGGAGAGAGAGGAAAATAGAG
GGTTGTCCACTCCTCACATTCCACGACCCAGGCCTGCACCCCACCCCCAACTCCCAGCCCCGGA
ATAAAACCATTTTCCTGCAAA

hide sequence

RefSeq Acc Id:

XM_011544683 ⟹ XP_011542985

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,039,672 - 22,048,809 (+)	NCBI

Sequence:

show sequence

CTTCTCAGTTCCCTTATCACCTCCTGAACCCCACCCCCCCAGCAATGAATGTTAATAAACCCCA
CCCTTCTTCCCTCCCCCTTTCCCCGAGCTCACTCCAGTCAAGGGAGAGAGTCTGACAGTTTAGG
TCAACTGAGGCTAAGCCACAAAAAGGGCCCCTGCCCCCATTCTTGTGGCACTTGATGCGTTTCT
GTGAGTCCTTTATCTCAGCTGACGTGGATGGCGGTGGTTTTGACAGTATCCCTGCTGGTAGCCA
TTTCCTTTTTATAAACTGGGACCCTGAAACCAGAGAAGTGAAGGGACTTGCCACAGGTCACACA
GCGTATAAGGACCAGGGCAAAGGGGCGGGGATAAAATCAAGGGCTCCATGCTGCCTCCCCACTT
GGGGCCCACCACTGGCTTCCCCATGGGCGTAAAGGAGCAAACCAAGTTAGAAGGCCAGGCCTGC
AGGTGCCCAACAGGAAGGGACAAGGAGCCACAGCTGTCTTGCCTGTGACACAGGCCATCCAGCC
ATGCCCAGAGCTAACCCCCTGGCTAAGCCCCGAGGCCCAGCTTGACTGCTGGCATCTGTTACCA
TGGAGACCCAGGCTGGCCTGAGGGCTGGGCCAGTGATGGCAGGCCCTGTCCCCATGGATAGAAA
CAGGTGCTTGGGCTCAGAGGCCTTGAGTGGCTCCCACTGTCCCCATGGCCAGTGAGTCCCGACA
GCATAAATTGGAACCGTTACCCACCTTTCGCCCCCCAGCTGACACCTCCACCAACCCAAGGCCT
GAGCTGTCCCCTCCACGTGTCTGTGCTCTCTTTAATGCCCTGCCTGGGGGCTGGGAGTGGTGAG
GATGTGGATGTGAGGTTGAAGGTTTCTCAGGGAATGAGCCAGAGCTGCCAGAAGAGGCAGAGTG
TAACCCAGACTGCAGATGATGGGAAGAACGCGGAACAGAAGTGACCTGAAGGATCCGCAGGGGG
AAAGCAGAGAGGTGGGCACGCGGGCACCTGGTACCTTGTCCCAGCCATGCCACCAGCTAGCTGT
GAGGCTTTGGGCGAGTCCCTTGCCCTCTCTGGCTCTCATCCAAGGAATGAGGAAGTTGGAACAA
ATGATGAATCCCTAAGACCCCTTCTAGGTTTGACATTCTTTGAGTTGCATTCCAAAACCCTGGA
CTCCCCCAGGTAAGCAAGGCCAGGGCTTGCCCCATCCTCCCCACACAAGCTCAGGCAGCACCCA
CTCCTGGGCTGGGTTCCCGAGGAAGAGCCTGCGGAGAGGAGACCCCGGAGCTGCCTGCACTGGT
CAGTGCATGGGGGCAGGGGTGGCAGACCACTTTGTGGATTGATGGAGCTCAGGAAGGTGAGAAG
GGACCCACAGGTGAGAGTTTCGCTCCCCTGGTCATCTCTTTAGGTAAATAAATCCACATCCGCC
ACTTCCCCTTCCCTTCCCACCCTGGGGGCGCTGAGAACTCCAGGGAGCCCAGAGCTGAGGCCTG
AGCTCTGCTTGCTCACACTGGGTCTTCCCTCAGAGACCCCCAAGCCCTCCTATCTTCTGCAGTC
ACCGTCATCCACTTTTCTGTAGGGAGGGAACAGCATGGAGCTCTCTGTTCACCGGTCTCCAGGA
CCTCGGATTCCACCTTTAATCCTGAAAACCCAGGAAGGCTTCTGTATCCCTACAATGAAGCAGC
TGCTGATTCTCTGCTGTCAAACTCAGGGGGAGAATCACCCGTCTCCTAATTTTAACCAGTACGT
GAGGGACCAGGGCGCCATGACCGACCAGCTGAGCAGGCGGCAGATCCGCGAGTACCAACTCTAC
AGCAGGACCAGTGGCAAGCACGTGCAGGTCACCGGGCGTCGCATCTCCGCCACCGCCGAGGACG
GCAACAAGTTTGCCAAGCTCATAGTGGAGACGGACACGTTTGGCAGCCGGGTTCGCATCAAAGG
GGCTGAGAGTGAGAAGTACATCTGTATGAACAAGAGGGGCAAGCTCATCGGGAAGCCCAGCGGG
AAGAGCAAAGACTGCGTGTTCACGGAGATCGTGCTGGAGAACAACTATACGGCCTTCCAGAACG
CCCGGCACGAGGGCTGGTTCATGGCCTTCACGCGGCAGGGGCGGCCCCGCCAGGCTTCCCGCAG
CCGCCAGAACCAGCGCGAGGCCCACTTCATCAAGCGCCTCTACCAAGGCCAGCTGCCCTTCCCC
AACCACGCCGAGAAGCAGAAGCAGTTCGAGTTTGTGGGCTCCGCCCCCACCCGCCGGACCAAGC
GCACACGGCGGCCCCAGCCCCTCACGTAGTCTGGGAGGCAGGGGGCAGCAGCCCCTGGGCCGCC
TCCCCACCCCTTTCCCTTCTTAATCCAAGGACTGGGCTGGGGTGGCGGGAGGGGAGCCAGATCC
CCGAGGGAGGACCCTGAGGGCCGCGAAGCATCCGAGCCCCCAGCTGGGAAGGGGCAGGCCGGTG
CCCCAGGGGCGGCTGGCACAGTGCCCCCTTCCCGGACGGGTGGCAGGCCCTGGAGAGGAACTGA
GTGTCACCCTGATCTCAGGCCACCAGCCTCTGCCGGCCTCCCAGCCGGGCTCCTGAAGCCCGCT
GAAAGGTCAGCGACTGAAGGCCTTGCAGACAACCGTCTGGAGGTGGCTGTCCTCAAAATCTGCT
TCTCGGATCTCCCTCAGTCTGCCCCCAGCCCCCAAACTCCTCCTGGCTAGACTGTAGGAAGGGA
CTTTTGTTTGTTTGTTTGTTTCAGGAAAAAAGAAAGGGAGAGAGAGGAAAATAGAGGGTTGTCC
ACTCCTCACATTCCACGACCCAGGCCTGCACCCCACCCCCAACTCCCAGCCCCGGAATAAAACC
ATTTTCCTGCAAA

hide sequence

RefSeq Acc Id:

XM_011544684 ⟹ XP_011542986

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,039,708 - 22,048,809 (+)	NCBI

Sequence:

show sequence

ACAAGAATGAAACTCCGTCTCAAAAAAGAAAAATTTGCAAAGCTGACACCTCCACCAACCCAAG
GCCTGAGCTGTCCCCTCCACGTGTCTGTGCTCTCTTTAATGCCCTGCCTGGGGGCTGGGAGTGG
TGAGGATGTGGATGTGAGGTTGAAGGTTTCTCAGGGAATGAGCCAGAGCTGCCAGAAGAGGCAG
AGTGTAACCCAGACTGCAGATGATGGGAAGAACGCGGAACAGAAGTGACCTGAAGGATCCGCAG
GGGGAAAGCAGAGAGGTGGGCACGCGGGCACCTGGTACCTTGTCCCAGCCATGCCACCAGCTAG
CTGTGAGGCTTTGGGCGAGTCCCTTGCCCTCTCTGGCTCTCATCCAAGGAATGAGGAAGTTGGA
ACAAATGATGAATCCCTAAGACCCCTTCTAGGTTTGACATTCTTTGAGTTGCATTCCAAAACCC
TGGACTCCCCCAGGTAAGCAAGGCCAGGGCTTGCCCCATCCTCCCCACACAAGCTCAGGCAGCA
CCCACTCCTGGGCTGGGTTCCCGAGGAAGAGCCTGCGGAGAGGAGACCCCGGAGCTGCCTGCAC
TGGTCAGTGCATGGGGGCAGGGGTGGCAGACCACTTTGTGGATTGATGGAGCTCAGGAAGGTGA
GAAGGGACCCACAGGTGAGAGTTTCGCTCCCCTGGTCATCTCTTTAGGTAAATAAATCCACATC
CGCCACTTCCCCTTCCCTTCCCACCCTGGGGGCGCTGAGAACTCCAGGGAGCCCAGAGCTGAGG
CCTGAGCTCTGCTTGCTCACACTGGGTCTTCCCTCAGAGACCCCCAAGCCCTCCTATCTTCTGC
AGTCACCGTCATCCACTTTTCTGTAGGGAGGGAACAGCATGGAGCTCTCTGTTCACCGGTCTCC
AGGACCTCGGATTCCACCTTTAATCCTGAAAACCCAGGAAGGCTTCTGTATCCCTACAATGAAG
CAGCTGCTGATTCTCTGCTGTCAAACTCAGGGGGAGAATCACCCGTCTCCTAATTTTAACCAGT
ACGTGAGGGACCAGGGCGCCATGACCGACCAGCTGAGCAGGCGGCAGATCCGCGAGTACCAACT
CTACAGCAGGACCAGTGGCAAGCACGTGCAGGTCACCGGGCGTCGCATCTCCGCCACCGCCGAG
GACGGCAACAAGTTTGCCAAGCTCATAGTGGAGACGGACACGTTTGGCAGCCGGGTTCGCATCA
AAGGGGCTGAGAGTGAGAAGTACATCTGTATGAACAAGAGGGGCAAGCTCATCGGGAAGCCCAG
CGGGAAGAGCAAAGACTGCGTGTTCACGGAGATCGTGCTGGAGAACAACTATACGGCCTTCCAG
AACGCCCGGCACGAGGGCTGGTTCATGGCCTTCACGCGGCAGGGGCGGCCCCGCCAGGCTTCCC
GCAGCCGCCAGAACCAGCGCGAGGCCCACTTCATCAAGCGCCTCTACCAAGGCCAGCTGCCCTT
CCCCAACCACGCCGAGAAGCAGAAGCAGTTCGAGTTTGTGGGCTCCGCCCCCACCCGCCGGACC
AAGCGCACACGGCGGCCCCAGCCCCTCACGTAGTCTGGGAGGCAGGGGGCAGCAGCCCCTGGGC
CGCCTCCCCACCCCTTTCCCTTCTTAATCCAAGGACTGGGCTGGGGTGGCGGGAGGGGAGCCAG
ATCCCCGAGGGAGGACCCTGAGGGCCGCGAAGCATCCGAGCCCCCAGCTGGGAAGGGGCAGGCC
GGTGCCCCAGGGGCGGCTGGCACAGTGCCCCCTTCCCGGACGGGTGGCAGGCCCTGGAGAGGAA
CTGAGTGTCACCCTGATCTCAGGCCACCAGCCTCTGCCGGCCTCCCAGCCGGGCTCCTGAAGCC
CGCTGAAAGGTCAGCGACTGAAGGCCTTGCAGACAACCGTCTGGAGGTGGCTGTCCTCAAAATC
TGCTTCTCGGATCTCCCTCAGTCTGCCCCCAGCCCCCAAACTCCTCCTGGCTAGACTGTAGGAA
GGGACTTTTGTTTGTTTGTTTGTTTCAGGAAAAAAGAAAGGGAGAGAGAGGAAAATAGAGGGTT
GTCCACTCCTCACATTCCACGACCCAGGCCTGCACCCCACCCCCAACTCCCAGCCCCGGAATAA
AACCATTTTCCTGCAAA

hide sequence

RefSeq Acc Id:

XM_011544685 ⟹ XP_011542987

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,039,672 - 22,048,809 (+)	NCBI

Sequence:

show sequence

CTTCTCAGTTCCCTTATCACCTCCTGAACCCCACCCCCCCAGCAATGAATGTTAATAAACCCCA
CCCTTCTTCCCTCCCCCTTTCCCCGAGCTCACTCCAGTCAAGGGAGAGAGTCTGACAGTTTAGG
TCAACTGAGGCTAAGCCACAAAAAGGGCCCCTGCCCCCATTCTTGTGGCACTTGATGCGTTTCT
GTGAGTCCTTTATCTCAGCTGACGTGGATGGCGGTGGTTTTGACAGTATCCCTGCTGGTAGCCA
TTTCCTTTTTATAAACTGGGACCCTGAAACCAGAGAAGTGAAGGGACTTGCCACAGGTCACACA
GCGTATAAGGACCAGGGCAAAGGGGCGGGGATAAAATCAAGGGCTCCATGCTGCCTCCCCACTT
GGGGCCCACCACTGGCTTCCCCATGGGCGTAAAGGAGCAAACCAAGTTAGAAGGCCAGGCCTGC
AGGTGCCCAACAGGAAGGGACAAGGAGCCACAGCTGTCTTGCCTGTGACACAGGCCATCCAGCC
ATGCCCAGAGCTAACCCCCTGGCTAAGCCCCGAGGCCCAGCTTGACTGCTGGCATCTGTTACCA
TGGAGACCCAGGCTGGCCTGAGGGCTGGGCCAGTGATGGCAGGCCCTGTCCCCATGGATAGAAA
CAGGTGCTTGGGCTCAGAGGCCTTGAGTGGCTCCCACTGTCCCCATGGCCAGTGAGTCCCGACA
GCATAAATTGGAACCGTTACCCACCTTTCGCCCCCCAGCTGACACCTCCACCAACCCAAGGCCT
GAGCTGTCCCCTCCACGTGTCTGTGCTCTCTTTAATGCCCTGCCTGGGGGCTGGGAGTGGTGAG
GATGTGGATGTGAGGTTGAAGGTTTCTCAGGGAATGAGCCAGAGCTGCCAGAAGAGGCAGAGTG
TAACCCAGACTGCAGATGATGGGAAGAACGCGGAACAGAAGTGACCTGAAGGATCCGCAGGGGG
AAAGCAGAGAGGTGGGCACGCGGGCACCTGGTACCTTGTCCCAGCCATGCCACCAGCTAGCTGT
GAGGCTTTGGGCGAGTCCCTTGCCCTCTCTGGCTCTCATCCAAGGAATGAGGAAGTTGGAACAA
ATGATGAATCCCTAAGACCCCTTCTAGGTTTGACATTCTTTGAGTTGCATTCCAAAACCCTGGA
CTCCCCCAGGTAAGCAAGGCCAGGGCTTGCCCCATCCTCCCCACACAAGCTCAGGCAGCACCCA
CTCCTGGGCTGGGTTCCCGAGGAAGAGCCTGCGGAGAGGAGACCCCGGAGCTGCCTGCACTGGT
CAGTGCATGGGGGCAGGGGTGGCAGACCACTTTGTGGATTGATGGAGCTCAGGAAGGTGAGAAG
GGACCCACAGGTGAGAGTTTCGCTCCCCTGGTCATCTCTTTAGGTAAATAAATCCACATCCGCC
ACTTCCCCTTCCCTTCCCACCCTGGGGGCGCTGAGAACTCCAGGGAGCCCAGAGCTGAGGCCTG
AGCTCTGCTTGCTCACACTGGGTCTTCCCTCAGAGACCCCCAAGCCCTCCTATCTTCTGCAGTC
ACCGTCATCCACTTTTCTGTAGGGAGGGAACAGCATGGAGCTCTCTGTTCACCGGTCTCCAGGA
CCTCGGATTCCACCTTTAATCCTGAAAACCCAGGAAGGCTTCTGTATCCCTACAATGAAGCAGC
TGCTGATTCTCTGCTGTCAAACTCAGTACGTGAGGGACCAGGGCGCCATGACCGACCAGCTGAG
CAGGCGGCAGATCCGCGAGTACCAACTCTACAGCAGGACCAGTGGCAAGCACGTGCAGGTCACC
GGGCGTCGCATCTCCGCCACCGCCGAGGACGGCAACAAGTTTGCCAAGCTCATAGTGGAGACGG
ACACGTTTGGCAGCCGGGTTCGCATCAAAGGGGCTGAGAGTGAGAAGTACATCTGTATGAACAA
GAGGGGCAAGCTCATCGGGAAGCCCAGCGGGAAGAGCAAAGACTGCGTGTTCACGGAGATCGTG
CTGGAGAACAACTATACGGCCTTCCAGAACGCCCGGCACGAGGGCTGGTTCATGGCCTTCACGC
GGCAGGGGCGGCCCCGCCAGGCTTCCCGCAGCCGCCAGAACCAGCGCGAGGCCCACTTCATCAA
GCGCCTCTACCAAGGCCAGCTGCCCTTCCCCAACCACGCCGAGAAGCAGAAGCAGTTCGAGTTT
GTGGGCTCCGCCCCCACCCGCCGGACCAAGCGCACACGGCGGCCCCAGCCCCTCACGTAGTCTG
GGAGGCAGGGGGCAGCAGCCCCTGGGCCGCCTCCCCACCCCTTTCCCTTCTTAATCCAAGGACT
GGGCTGGGGTGGCGGGAGGGGAGCCAGATCCCCGAGGGAGGACCCTGAGGGCCGCGAAGCATCC
GAGCCCCCAGCTGGGAAGGGGCAGGCCGGTGCCCCAGGGGCGGCTGGCACAGTGCCCCCTTCCC
GGACGGGTGGCAGGCCCTGGAGAGGAACTGAGTGTCACCCTGATCTCAGGCCACCAGCCTCTGC
CGGCCTCCCAGCCGGGCTCCTGAAGCCCGCTGAAAGGTCAGCGACTGAAGGCCTTGCAGACAAC
CGTCTGGAGGTGGCTGTCCTCAAAATCTGCTTCTCGGATCTCCCTCAGTCTGCCCCCAGCCCCC
AAACTCCTCCTGGCTAGACTGTAGGAAGGGACTTTTGTTTGTTTGTTTGTTTCAGGAAAAAAGA
AAGGGAGAGAGAGGAAAATAGAGGGTTGTCCACTCCTCACATTCCACGACCCAGGCCTGCACCC
CACCCCCAACTCCCAGCCCCGGAATAAAACCATTTTCCTGCAAA

hide sequence

RefSeq Acc Id:

XM_054361440 ⟹ XP_054217415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	22,318,505 - 22,322,765 (+)	NCBI

RefSeq Acc Id:

XM_054361441 ⟹ XP_054217416

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	22,313,628 - 22,322,765 (+)	NCBI

RefSeq Acc Id:

XM_054361442 ⟹ XP_054217417

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	22,313,664 - 22,322,765 (+)	NCBI

RefSeq Acc Id:

XM_054361443 ⟹ XP_054217418

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	22,313,628 - 22,322,765 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001291407	(Get FASTA)	NCBI Sequence Viewer
	NP_003858	(Get FASTA)	NCBI Sequence Viewer
	XP_005273732	(Get FASTA)	NCBI Sequence Viewer
	XP_011542985	(Get FASTA)	NCBI Sequence Viewer
	XP_011542986	(Get FASTA)	NCBI Sequence Viewer
	XP_011542987	(Get FASTA)	NCBI Sequence Viewer
	XP_054217415	(Get FASTA)	NCBI Sequence Viewer
	XP_054217416	(Get FASTA)	NCBI Sequence Viewer
	XP_054217417	(Get FASTA)	NCBI Sequence Viewer
	XP_054217418	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH69475	(Get FASTA)	NCBI Sequence Viewer
	AAI05132	(Get FASTA)	NCBI Sequence Viewer
	AAI13490	(Get FASTA)	NCBI Sequence Viewer
	AAI43790	(Get FASTA)	NCBI Sequence Viewer
	AAM09570	(Get FASTA)	NCBI Sequence Viewer
	AAQ89228	(Get FASTA)	NCBI Sequence Viewer
	BAA25429	(Get FASTA)	NCBI Sequence Viewer
	EAW63727	(Get FASTA)	NCBI Sequence Viewer
	EAW63728	(Get FASTA)	NCBI Sequence Viewer
	EAW63729	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000352414
	ENSP00000352414.3
	ENSP00000431041
	ENSP00000431041.1
GenBank Protein	O60258	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_003858 ⟸ NM_003867
- Peptide Label:	isoform 1 precursor
- UniProtKB:	B7ZLG4 (UniProtKB/Swiss-Prot), Q2M2W1 (UniProtKB/Swiss-Prot), O60258 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGAARLLPNLTLCLQLLILCCQTQGENHPSPNFNQYVRDQGAMTDQLSRRQIREYQLYSRTSGK HVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKPSGKSKDCV FTEIVLENNYTAFQNARHEGWFMAFTRQGRPRQASRSRQNQREAHFIKRLYQGQLPFPNHAEKQ KQFEFVGSAPTRRTKRTRRPQPLT hide sequence

RefSeq Acc Id:	XP_005273732 ⟸ XM_005273675
- Peptide Label:	isoform X1
- UniProtKB:	A0A7U3JVY9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAICPLHSAGQVACPHYIHLLTPLPWMDQWWCHPKQIDTIFPLVTAKGENHPSPNFNQYVRDQG AMTDQLSRRQIREYQLYSRTSGKHVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESE KYICMNKRGKLIGKPSGKSKDCVFTEIVLENNYTAFQNARHEGWFMAFTRQGRPRQASRSRQNQ REAHFIKRLYQGQLPFPNHAEKQKQFEFVGSAPTRRTKRTRRPQPLT hide sequence

RefSeq Acc Id:	NP_001291407 ⟸ NM_001304478
- Peptide Label:	isoform 2 precursor
- UniProtKB:	O60258 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGAARLLPNLTLCLQLLILCCQTQYVRDQGAMTDQLSRRQIREYQLYSRTSGKHVQVTGRRISA TAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKPSGKSKDCVFTEIVLENNYT AFQNARHEGWFMAFTRQGRPRQASRSRQNQREAHFIKRLYQGQLPFPNHAEKQKQFEFVGSAPT RRTKRTRRPQPLT hide sequence

RefSeq Acc Id:

XP_011542986 ⟸ XM_011544684

- Peptide Label:

isoform X2

- Sequence:

show sequence

MELSVHRSPGPRIPPLILKTQEGFCIPTMKQLLILCCQTQGENHPSPNFNQYVRDQGAMTDQLS
RRQIREYQLYSRTSGKHVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNK
RGKLIGKPSGKSKDCVFTEIVLENNYTAFQNARHEGWFMAFTRQGRPRQASRSRQNQREAHFIK
RLYQGQLPFPNHAEKQKQFEFVGSAPTRRTKRTRRPQPLT

hide sequence

RefSeq Acc Id:

XP_011542985 ⟸ XM_011544683

- Peptide Label:

isoform X2

- Sequence:

show sequence

MELSVHRSPGPRIPPLILKTQEGFCIPTMKQLLILCCQTQGENHPSPNFNQYVRDQGAMTDQLS
RRQIREYQLYSRTSGKHVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNK
RGKLIGKPSGKSKDCVFTEIVLENNYTAFQNARHEGWFMAFTRQGRPRQASRSRQNQREAHFIK
RLYQGQLPFPNHAEKQKQFEFVGSAPTRRTKRTRRPQPLT

hide sequence

RefSeq Acc Id:

XP_011542987 ⟸ XM_011544685

- Peptide Label:

isoform X3

- Sequence:

show sequence

MELSVHRSPGPRIPPLILKTQEGFCIPTMKQLLILCCQTQYVRDQGAMTDQLSRRQIREYQLYS
RTSGKHVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKPSGK
SKDCVFTEIVLENNYTAFQNARHEGWFMAFTRQGRPRQASRSRQNQREAHFIKRLYQGQLPFPN
HAEKQKQFEFVGSAPTRRTKRTRRPQPLT

hide sequence

RefSeq Acc Id:

ENSP00000352414 ⟸ ENST00000359441

RefSeq Acc Id:

ENSP00000431041 ⟸ ENST00000518533

RefSeq Acc Id:	XP_054217416 ⟸ XM_054361441
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054217418 ⟸ XM_054361443
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054217417 ⟸ XM_054361442
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054217415 ⟸ XM_054361440
- Peptide Label:	isoform X1
- UniProtKB:	A0A7U3JVY9 (UniProtKB/TrEMBL)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O60258-F1-model_v2	AlphaFold	O60258	1-216	view protein structure

Promoters

RGD ID:

7212769

Promoter ID:

EPDNEW_H12130

Type:

multiple initiation site

Name:

FGF17_1

Description:

fibroblast growth factor 17

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,042,389 - 22,042,449	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3673	AgrOrtholog
COSMIC	FGF17	COSMIC
Ensembl Genes	ENSG00000158815	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000359441	ENTREZGENE
	ENST00000359441.4	UniProtKB/Swiss-Prot
	ENST00000518533	ENTREZGENE
	ENST00000518533.5	UniProtKB/Swiss-Prot
	ENST00000524314	ENTREZGENE
Gene3D-CATH	2.80.10.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000158815	GTEx
HGNC ID	HGNC:3673	ENTREZGENE
Human Proteome Map	FGF17	Human Proteome Map
InterPro	Fibroblast_GF_fam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IL1/FGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8822	UniProtKB/Swiss-Prot
NCBI Gene	8822	ENTREZGENE
OMIM	603725	OMIM
PANTHER	PTHR11486	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11486:SF71	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	FGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA28112	PharmGKB
PRINTS	IL1HBGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	HBGF_FGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	FGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF50353	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A7U3JVY9	ENTREZGENE, UniProtKB/TrEMBL
	B7ZLG4	ENTREZGENE
	FGF17_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q2M2W1	ENTREZGENE
UniProt Secondary	B7ZLG4	UniProtKB/Swiss-Prot
	Q2M2W1	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 Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO