FGF16 (fibroblast growth factor 16)

Gene: FGF16 (fibroblast growth factor 16) Homo sapiens

Analyze

Symbol:

FGF16

Name:

fibroblast growth factor 16

RGD ID:

733065

HGNC Page

HGNC:3672

Description:

Predicted to enable fibroblast growth factor receptor binding activity and growth factor activity. Involved in positive regulation of endothelial cell chemotaxis to fibroblast growth factor. Predicted to be located in extracellular region. Predicted to be active in cytoplasm and extracellular space. Implicated in syndactyly type 8.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FGF-16; metacarpal 4-5 fusion; MF4

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):	Fgf16 (fibroblast growth factor 16)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Fgf16 (fibroblast growth factor 16)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Fgf16 (fibroblast growth factor 16)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	FGF16 (fibroblast growth factor 16)	NCBI	Ortholog
Canis lupus familiaris (dog):	FGF16 (fibroblast growth factor 16)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Fgf16 (fibroblast growth factor 16)	NCBI	Ortholog
Sus scrofa (pig):	FGF16 (fibroblast growth factor 16)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	FGF16 (fibroblast growth factor 16)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Fgf16 (fibroblast growth factor 16)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Fgf9 (fibroblast growth factor 9)	HGNC	OrthoDB
Mus musculus (house mouse):	Fgf9 (fibroblast growth factor 9)	HGNC	OrthoDB
Canis lupus familiaris (dog):	FGF9 (fibroblast growth factor 9)	HGNC	OrthoDB
Sus scrofa (pig):	FGF9 (fibroblast growth factor 9)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Fgf16 (fibroblast growth factor 16)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Fgf16 (fibroblast growth factor 16)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	fgf16 (fibroblast growth factor 16)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	bnl	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|PANTHER)
Caenorhabditis elegans (roundworm):	let-756	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	fgf16	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	fgf16.S	Alliance	DIOPT (Xenbase)

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	X	77,447,389 - 77,457,278 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	77,447,389 - 77,457,278 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	76,709,643 - 76,712,769 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	76,596,304 - 76,598,669 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	76,515,791 - 76,518,158	NCBI
Celera	X	76,943,778 - 76,952,520 (+)	NCBI		Celera
Cytogenetic Map	X	q21.1	NCBI
HuRef	X	70,299,289 - 70,300,827 (+)	NCBI		HuRef
CHM1_1	X	76,602,327 - 76,604,695 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	75,884,945 - 75,894,834 (+)	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

adenoid cystic carcinoma (EXP)

autistic disorder (IAGP)

syndactyly type 8 (EXP,IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

2-palmitoylglycerol (EXP)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

ammonium chloride (ISO)

antirheumatic drug (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

CGP 52608 (EXP)

chondroitin sulfate (ISO)

dermatan sulfate (ISO)

diazinon (ISO)

furan (ISO)

furosemide (ISO)

isoprenaline (ISO)

methotrexate (ISO)

phorbol 13-acetate 12-myristate (EXP)

pirinixic acid (ISO)

resveratrol (EXP)

rotenone (ISO)

triazines (ISO)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

animal organ morphogenesis (IBA,IEA,TAS)

cell differentiation (IBA,IEA)

cell-cell signaling (TAS)

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

positive regulation of brown fat cell proliferation (ISO)

positive regulation of cell population proliferation (IBA,IEA)

positive regulation of endothelial cell chemotaxis to fibroblast growth factor (IDA,IEA)

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)

regulation of endothelial cell proliferation (IDA)

regulation of sprouting angiogenesis (IDA)

response to temperature stimulus (TAS)

signal transduction (TAS)

Cellular Component

cytoplasm (IBA,IEA)

extracellular region (IEA,TAS)

extracellular space (IBA,IEA,TAS)

Molecular Function

fibroblast growth factor receptor binding (IBA,IEA)

growth factor activity (IBA,IEA,TAS)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

melanoma pathway (IEA)

mitogen activated protein kinase signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

2-3 toe cutaneous syndactyly (IAGP)

4-5 metacarpal synostosis (IAGP)

Autism (IAGP)

Clinodactyly of the 5th finger (IAGP)

Congenital onset (IAGP)

Short 5th metacarpal (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Structure and expression of a novel member, FGF-16, on the fibroblast growth factor family.	Miyake A, etal., Biochem Biophys Res Commun 1998 Feb 4;243(1):148-52.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
7.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:10766846	PMID:11131657	PMID:11276432	PMID:11474196	PMID:12851399	PMID:16211270	PMID:16597617	PMID:16756958	PMID:18565327	PMID:20097674	PMID:21832049	PMID:21873635
PMID:23709756	PMID:24706454	PMID:24878828	PMID:25912421	PMID:28409700	PMID:29513927	PMID:31292167	PMID:31801200	PMID:32296183	PMID:33956078	PMID:33961781

Genomics

Comparative Map Data

FGF16
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	77,447,389 - 77,457,278 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	77,447,389 - 77,457,278 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	76,709,643 - 76,712,769 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	76,596,304 - 76,598,669 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	76,515,791 - 76,518,158	NCBI
Celera	X	76,943,778 - 76,952,520 (+)	NCBI		Celera
Cytogenetic Map	X	q21.1	NCBI
HuRef	X	70,299,289 - 70,300,827 (+)	NCBI		HuRef
CHM1_1	X	76,602,327 - 76,604,695 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	75,884,945 - 75,894,834 (+)	NCBI		T2T-CHM13v2.0

Fgf16
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	104,808,083 - 104,820,138 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	104,807,885 - 104,818,545 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	105,764,477 - 105,776,532 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	105,764,279 - 105,774,939 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	102,959,816 - 102,971,871 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	101,967,260 - 101,976,899 (+)	NCBI		MGSCv36	mm8
Celera	X	92,618,588 - 92,630,442 (+)	NCBI		Celera
Cytogenetic Map	X	D	NCBI
cM Map	X	47.2	NCBI

Fgf16
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	74,882,863 - 74,893,598 (+)	NCBI		GRCr8
mRatBN7.2	X	70,816,658 - 70,828,028 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	70,817,433 - 70,878,717 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	72,326,620 - 72,336,209 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	75,826,927 - 75,836,512 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	73,390,086 - 73,399,673 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	76,786,728 - 76,796,311 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	76,786,466 - 76,797,069 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	55,910,573 - 55,920,156 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	93,870,484 - 93,880,067 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	93,943,654 - 93,954,254 (+)	NCBI
Celera	X	72,132,220 - 72,141,534 (+)	NCBI		Celera
Cytogenetic Map	X	q22	NCBI

Fgf16
(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_004955557	905,576 - 919,415 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955557	906,361 - 915,590 (+)	NCBI	ChiLan1.0	ChiLan1.0

FGF16
(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	X	77,023,718 - 77,033,339 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	77,027,329 - 77,036,950 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	66,623,050 - 66,634,325 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	76,737,733 - 76,746,816 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	76,737,733 - 76,749,731 (+)	Ensembl	panpan1.1		panPan2

FGF16
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	59,738,512 - 59,748,188 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	59,739,398 - 59,748,204 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	50,753,734 - 50,762,935 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	60,977,750 - 60,986,950 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	60,977,988 - 60,986,988 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	58,685,639 - 58,694,838 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	60,291,788 - 60,301,024 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	59,883,445 - 59,892,646 (+)	NCBI		UU_Cfam_GSD_1.0

Fgf16
(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	X	42,484,065 - 42,493,677 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936683	2,454,067 - 2,463,635 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936683	2,454,067 - 2,463,653 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FGF16
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	61,552,460 - 61,561,954 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	61,551,487 - 61,561,807 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	70,358,080 - 70,368,401 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FGF16
(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	X	66,389,983 - 66,401,562 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666067	15,117,006 - 15,126,908 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fgf16
(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_004624836	3,521,243 - 3,541,824 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624836	3,521,170 - 3,541,844 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FGF16
11 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_003868.3(FGF16):c.535C>T (p.Arg179Ter)	single nucleotide variant	Syndactyly type 8 [RCV000056296]	ChrX:77456433 [GRCh38] ChrX:76711924 [GRCh37] ChrX:Xq21.1	pathogenic
NM_003868.3(FGF16):c.470C>A (p.Ser157Ter)	single nucleotide variant	Syndactyly type 8 [RCV000056297]	ChrX:77456368 [GRCh38] ChrX:76711859 [GRCh37] ChrX:Xq21.1	pathogenic
GRCh38/hg38 Xq21.1(chrX:77456321-77702484)x2	copy number gain	See cases [RCV000050820]	ChrX:77456321..77702484 [GRCh38] ChrX:76711812..76957972 [GRCh37] ChrX:76598468..76844628 [NCBI36] ChrX:Xq21.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	copy number loss	See cases [RCV000051666]	ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	pathogenic
GRCh38/hg38 Xq21.1(chrX:77448504-77783428)x2	copy number gain	See cases [RCV000052420]	ChrX:77448504..77783428 [GRCh38] ChrX:76703995..77038914 [GRCh37] ChrX:76590651..76925570 [NCBI36] ChrX:Xq21.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_003868.2(FGF16):c.549C>T (p.Phe183=)	single nucleotide variant	Malignant melanoma [RCV000073254]	ChrX:77456447 [GRCh38] ChrX:76711938 [GRCh37] ChrX:76598594 [NCBI36] ChrX:Xq21.1	not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_003868.2(FGF16):c.275_293dup	duplication	Syndactyly type 8 [RCV000148011]\|not provided [RCV001008301]	ChrX:77454154..77454155 [GRCh38] ChrX:76709645..76709646 [GRCh37] ChrX:Xq21.1	pathogenic\|likely pathogenic\|not provided
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	copy number gain	See cases [RCV000134569]	ChrX:62712219..78605009 [GRCh38] ChrX:61931689..77860506 [GRCh37] ChrX:61848414..77747162 [NCBI36] ChrX:Xq11.1-21.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	copy number loss	See cases [RCV000135306]	ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	copy number loss	See cases [RCV000137414]	ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	copy number loss	See cases [RCV000141742]	ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24	pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	copy number gain	See cases [RCV000142336]	ChrX:66445907..78172208 [GRCh38] ChrX:65665749..77427705 [GRCh37] ChrX:65582474..77314361 [NCBI36] ChrX:Xq12-21.1	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	copy number loss	See cases [RCV000511311]	ChrX:55240087..78225374 [GRCh37] ChrX:Xp11.21-q21.1	pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	copy number gain	See cases [RCV000240019]	ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3	copy number gain	See cases [RCV000447565]	ChrX:71316395..84337550 [GRCh37] ChrX:Xq13.1-21.1	uncertain significance
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1(chrX:76610042-76971266)x2	copy number gain	See cases [RCV000445810]	ChrX:76610042..76971266 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	copy number loss	See cases [RCV000512026]	ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	copy number loss	See cases [RCV000510947]	ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1(chrX:76709799-77196518)x2	copy number gain	not provided [RCV000753611]	ChrX:76709799..77196518 [GRCh37] ChrX:Xq21.1	benign
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NM_003868.3(FGF16):c.*301G>T	single nucleotide variant	not provided [RCV001567551]	ChrX:77456823 [GRCh38] ChrX:76712314 [GRCh37] ChrX:Xq21.1	likely benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	pathogenic
GRCh37/hg19 Xq21.1(chrX:76707749-77398963)x2	copy number gain	not provided [RCV001007316]	ChrX:76707749..77398963 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1	copy number loss	not provided [RCV000847338]	ChrX:74667077..90312981 [GRCh37] ChrX:Xq13.3-21.31	pathogenic
GRCh37/hg19 Xq21.1(chrX:76205499-76982189)x2	copy number gain	not provided [RCV000847966]	ChrX:76205499..76982189 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
NM_003868.3(FGF16):c.379-209C>T	single nucleotide variant	not provided [RCV001593781]	ChrX:77456068 [GRCh38] ChrX:76711559 [GRCh37] ChrX:Xq21.1	likely benign
NM_003868.3(FGF16):c.378+40_378+42dup	duplication	not provided [RCV001556796]	ChrX:77454272..77454273 [GRCh38] ChrX:76709763..76709764 [GRCh37] ChrX:Xq21.1	likely benign
NM_003868.3(FGF16):c.275-104G>A	single nucleotide variant	not provided [RCV001560336]	ChrX:77454053 [GRCh38] ChrX:76709544 [GRCh37] ChrX:Xq21.1	likely benign
NM_003868.3(FGF16):c.27C>A (p.Ala9=)	single nucleotide variant	not provided [RCV001576290]	ChrX:77447701 [GRCh38] ChrX:Xq21.1	likely benign
NM_003868.3(FGF16):c.378+42dup	duplication	not provided [RCV001716613]	ChrX:77454272..77454273 [GRCh38] ChrX:76709763..76709764 [GRCh37] ChrX:Xq21.1	benign
NM_003868.3(FGF16):c.378+42del	deletion	not provided [RCV001583882]	ChrX:77454273 [GRCh38] ChrX:76709764 [GRCh37] ChrX:Xq21.1	likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.1(chrX:76131829-77015522)x2	copy number gain	not provided [RCV001259004]	ChrX:76131829..77015522 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
NM_003868.3(FGF16):c.617A>G (p.Tyr206Cys)	single nucleotide variant	not provided [RCV001355255]	ChrX:77456515 [GRCh38] ChrX:76712006 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_003868.3(FGF16):c.168A>G (p.Leu56=)	single nucleotide variant	not provided [RCV001592241]	ChrX:77447842 [GRCh38] ChrX:Xq21.1	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	copy number gain	not specified [RCV002053147]	ChrX:72095006..88455505 [GRCh37] ChrX:Xq13.2-21.31	uncertain significance
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	copy number gain	not specified [RCV002053135]	ChrX:61877278..79123671 [GRCh37] ChrX:Xq11.1-21.1	pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	copy number gain	not specified [RCV002053136]	ChrX:61974855..79123671 [GRCh37] ChrX:Xq11.1-21.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1(chrX:76610042-76971266)	copy number gain	not specified [RCV002053148]	ChrX:76610042..76971266 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.3-21.1(chrX:74946710-76904755)x3	copy number gain	not provided [RCV002474910]	ChrX:74946710..76904755 [GRCh37] ChrX:Xq13.3-21.1	uncertain significance
GRCh37/hg19 Xq21.1(chrX:76646315-77386337)x3	copy number gain	not provided [RCV002473709]	ChrX:76646315..77386337 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xq13.3-21.1(chrX:75463914-77297280)x3	copy number gain	not provided [RCV002472836]	ChrX:75463914..77297280 [GRCh37] ChrX:Xq13.3-21.1	uncertain significance
GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	copy number loss	not provided [RCV003483923]	ChrX:73620711..90395211 [GRCh37] ChrX:Xq13.2-21.31	pathogenic
NM_003868.3(FGF16):c.534A>C (p.Lys178Asn)	single nucleotide variant	not provided [RCV003439682]	ChrX:77456432 [GRCh38] ChrX:76711923 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_003868.3(FGF16):c.412C>T (p.Gln138Ter)	single nucleotide variant	FGF16-related condition [RCV003400001]	ChrX:77456310 [GRCh38] ChrX:76711801 [GRCh37] ChrX:Xq21.1	likely pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	copy number gain	not specified [RCV003986211]	ChrX:61877278..79122848 [GRCh37] ChrX:Xq11.1-21.1	pathogenic
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	copy number gain	not specified [RCV003986197]	ChrX:68040342..100863081 [GRCh37] ChrX:Xq13.1-22.1	pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NC_000023.11:g.(?_66445907)_(78172208_?)dup	duplication	Xq13q21 duplication [RCV003885331]	ChrX:66445907..78172208 [GRCh38] ChrX:Xq12-21.1	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	397
Count of miRNA genes:	305
Interacting mature miRNAs:	356
Transcripts:	ENST00000439435
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.

Markers in Region

D1S3688

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	X	q13	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	13	q11	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	5	q35.2	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	16	q21	UniSTS

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

High

Medium

Low

277

388

974

221

213

104

567

398

Below cutoff

1399

1621

728

199

383

2524

1604

1863

128

690

801

137

587

1887

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_034050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB009391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC243316	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX682239	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000439435 ⟹ ENSP00000399324

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	77,447,389 - 77,457,278 (+)	Ensembl

RefSeq Acc Id:

NM_003868 ⟹ NP_003859

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	77,447,389 - 77,457,278 (+)	NCBI
GRCh37	X	76,709,645 - 76,712,013 (+)	RGD
Build 36	X	76,596,304 - 76,598,669 (+)	NCBI Archive
Celera	X	76,943,778 - 76,952,520 (+)	RGD
HuRef	X	70,299,289 - 70,300,827 (+)	ENTREZGENE
CHM1_1	X	76,602,325 - 76,604,695 (+)	NCBI
T2T-CHM13v2.0	X	75,884,945 - 75,894,834 (+)	NCBI

Sequence:

show sequence

GGACGAAGCCAGCTATGAGAGGCCGGGGGAGATGGATGCGGAGGGGAAGAGGCACTTTGACTGA
GAGCAAGGTCAGGAGCACGCTGCCCCGCGCTCCCCGCCACTGAGAAGTTCCTTGGACGCGAACA
GACGTCGACTGCAGCTCGGCAGAGCGCGGAGCAAGCGAGCTAGCGAGGGAGCGCCGCCGAACCG
CCCGCGCCCGCTGCGGGGAGAGGCAGTTCGCGCCCCGTGGCCCCGGCTCGGCCCGCGCGCGCCC
AGCACAACCAGCGCCGCAATCGGCCCAGCCATGGCAGAGGTGGGGGGCGTCTTCGCCTCCTTGG
ACTGGGATCTACACGGCTTCTCCTCGTCTCTGGGGAACGTGCCCTTAGCTGACTCCCCAGGTTT
CCTGAACGAGCGCCTGGGCCAAATCGAGGGGAAGCTGCAGCGTGGCTCACCCACAGACTTCGCC
CACCTAAAGGGGATCCTGCGGCGCCGCCAGCTCTACTGCCGCACCGGCTTCCACCTGGAGATCT
TCCCCAACGGCACGGTGCACGGGACCCGCCACGACCACAGCCGCTTCGGAATCCTGGAGTTTAT
CAGCCTGGCTGTGGGGCTGATCAGCATCCGGGGAGTGGACTCTGGCCTGTACCTAGGAATGAAT
GAGCGAGGAGAACTCTATGGGTCGAAGAAACTCACACGTGAATGTGTTTTCCGGGAACAGTTTG
AAGAAAACTGGTACAACACCTATGCCTCAACCTTGTACAAACATTCGGACTCAGAGAGACAGTA
TTACGTGGCCCTGAACAAAGATGGCTCACCCCGGGAGGGATACAGGACTAAACGACACCAGAAA
TTCACTCACTTTTTACCCAGGCCTGTAGATCCTTCTAAGTTGCCCTCCATGTCCAGAGACCTCT
TTCACTATAGGTAATGAACCTCTGGTGTGCCCTCTGTGACCCATGTACCCTGGGGCCACGGTTG
TCTCTGCAAGCACTATATTCATAGCTTTTCAATCCTTCCTTCCTATCATTTTAGATAACAGAAA
AGCACTTACTGTTGAACTCAACCCAGCTGTTCCCTTGTTGTTCAAAGTGTATATCAAGGTTGGG
TTATTTTGGGGAGGGATGGGGGGCTGGGCTCGAGGGAATCTTGTATATACTTTTTTCTTTACTC
ATGTTCCTTCCCCTGAGGTAGCATAACAAAGAATGGGAGCCCCTGCTAAGGGCCAGGGGTGTCT
TACCCCACAATTTACTCAAATACCTTGACAATGGGTATAAATGAAAGGCCAAGGAATCTGCCAC
AGATGCTACCTACAGAGCTTTGGAAAAGTCTCATTAAGAAAATCCTTGGGGCTACAGCCTTGCT
GCAAGCCTTCCCTGCATTGGCTCTGCAGATTTCTCATCTGTCCTGACATGCAGTTTTCCTGTCA
TTGGAAGTGGGAGATGGGGTAGGTTGTAAGAAAATGATATTAAAATGTAAGCATGGATACTGTG
CATAAGGACAAACTATTTATAAAATGTATATGCTATTTATTTTATATATTTATTTATTTCAAAA
TAATAATTTTATTTTTAATGAGAGATGCGATGGCTGGATTTTCATCAGAAAGAATAAGGTCCTA
CTGAAACAGGATAAAATGAGTTATTAAAGGCTTTTACTGACAATAAAATTTGTCTTTATATTGT
AA

hide sequence

Protein Sequences


Protein RefSeqs	NP_003859	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	BAA24956	(Get FASTA)	NCBI Sequence Viewer
	EAW98617	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000399324
	ENSP00000399324.2
GenBank Protein	O43320	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_003859 ⟸ NM_003868

- UniProtKB:

O43320 (UniProtKB/Swiss-Prot), A0A7U3L5H2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAEVGGVFASLDWDLHGFSSSLGNVPLADSPGFLNERLGQIEGKLQRGSPTDFAHLKGILRRRQ
LYCRTGFHLEIFPNGTVHGTRHDHSRFGILEFISLAVGLISIRGVDSGLYLGMNERGELYGSKK
LTRECVFREQFEENWYNTYASTLYKHSDSERQYYVALNKDGSPREGYRTKRHQKFTHFLPRPVD
PSKLPSMSRDLFHYR

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RefSeq Acc Id:

ENSP00000399324 ⟸ ENST00000439435

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O43320-F1-model_v2	AlphaFold	O43320	1-207	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3672	AgrOrtholog
COSMIC	FGF16	COSMIC
Ensembl Genes	ENSG00000196468	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000439435	ENTREZGENE
	ENST00000439435.3	UniProtKB/Swiss-Prot
Gene3D-CATH	2.80.10.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000196468	GTEx
HGNC ID	HGNC:3672	ENTREZGENE
Human Proteome Map	FGF16	Human Proteome Map
InterPro	Fibroblast_GF_fam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IL1/FGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8823	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	8823	ENTREZGENE
OMIM	300827	OMIM
PANTHER	PTHR11486	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11486:SF27	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	FGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA28111	PharmGKB
PRINTS	HBGFFGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	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	A0A7U3L5H2	ENTREZGENE, UniProtKB/TrEMBL
	FGF16_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-09	FGF16	fibroblast growth factor 16	MF4	metacarpal 4-5 fusion	Data merged from RGD:1346735	737654	PROVISIONAL

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 Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar