ARAF (A-Raf proto-oncogene, serine/threonine kinase)

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Gene: ARAF (A-Raf proto-oncogene, serine/threonine kinase) Homo sapiens

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Symbol:

ARAF

Name:

A-Raf proto-oncogene, serine/threonine kinase

RGD ID:

1348364

HGNC Page

HGNC:646

Description:

Enables protein serine/threonine kinase activity. Involved in negative regulation of apoptotic process; regulation of TOR signaling; and regulation of protein metabolic process. Predicted to be active in cytosol and mitochondrion. Biomarker of high grade glioma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

A-RAF; A-Raf proto-oncogene serine/threonine-protein kinase; ARAF1; Oncogene ARAF1; PKS2; proto-oncogene A-Raf; proto-oncogene A-Raf-1; proto-oncogene Pks; RAFA1; Ras-binding protein DA-Raf; serine/threonine-protein kinase A-Raf; v-raf murine sarcoma 3611 viral oncogene homolog 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

ARAFP1 ARAFP2 ARAFP3

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	47,561,205 - 47,571,908 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	47,561,205 - 47,571,908 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	47,420,604 - 47,431,307 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	47,305,522 - 47,316,264 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	47,176,760 - 47,187,553	NCBI
Celera	X	51,615,774 - 51,626,577 (+)	NCBI		Celera
Cytogenetic Map	X	p11.3	NCBI
HuRef	X	45,132,731 - 45,143,540 (+)	NCBI		HuRef
CHM1_1	X	47,451,606 - 47,462,422 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	46,971,095 - 46,981,798 (+)	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

autistic disorder (IAGP)

Breast Neoplasms (EXP)

congenital disorder of glycosylation type IIm (IAGP)

high grade glioma (IEP)

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IAGP)

lung adenocarcinoma (IAGP)

lung non-small cell carcinoma (IAGP)

neurodegeneration with brain iron accumulation 5 (IAGP)

papillary renal cell carcinoma (IAGP)

skin melanoma (IAGP)

Sporadic Papillary Renal Cell Carcinoma (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

X-linked epilepsy with variable learning disabilities and behavior disorders (IAGP)

X-linked severe congenital neutropenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

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

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

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-diaminodiphenylmethane (ISO)

4-nitrophenol (ISO)

4-vinylcyclohexene dioxide (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (EXP)

Aflatoxin B2 alpha (EXP)

ammonium chloride (ISO)

auramine O (EXP)

avobenzone (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

caffeine (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

chlorohydrocarbon (ISO)

coumarin (EXP)

Cuprizon (ISO)

cyclosporin A (EXP)

dexamethasone (EXP)

diazinon (EXP,ISO)

diclofenac (EXP)

dicrotophos (EXP)

dieldrin (ISO)

elemental selenium (EXP)

ethanol (ISO)

fenbendazole (EXP)

fenthion (ISO)

flutamide (ISO)

folic acid (ISO)

FR900359 (EXP)

furan (ISO)

gentamycin (ISO)

indometacin (EXP)

irinotecan (EXP)

lead(0) (EXP)

mifepristone (EXP)

N-methyl-N'-nitro-N-nitrosoguanidine (EXP)

nickel dichloride (ISO)

niclosamide (EXP)

ouabain (EXP)

ozone (EXP)

paracetamol (EXP,ISO)

progesterone (ISO)

quercetin (EXP)

resveratrol (EXP)

selenium atom (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

Soman (ISO)

tetrachloromethane (ISO)

thapsigargin (ISO)

thioacetamide (ISO)

thiram (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

valproic acid (EXP)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chromatin remodeling (IEA)

MAPK cascade (IBA,IEA)

negative regulation of apoptotic process (IDA,IEA)

positive regulation of peptidyl-serine phosphorylation (IDA)

protein modification process (IEA,TAS)

protein phosphorylation (ISO)

regulation of proteasomal ubiquitin-dependent protein catabolic process (IMP)

regulation of TOR signaling (IMP)

signal transduction (IEA)

Cellular Component

cytosol (IBA,TAS)

mitochondrion (IBA,IEA)

Molecular Function

3-phosphoinositide-dependent protein kinase activity (IEA)

AMP-activated protein kinase activity (IEA)

ATP binding (IEA)

DNA-dependent protein kinase activity (IEA)

eukaryotic translation initiation factor 2alpha kinase activity (IEA)

histone H2AS1 kinase activity (IEA)

histone H2AS121 kinase activity (IEA)

histone H2AT120 kinase activity (IEA)

histone H2AXS139 kinase activity (IEA)

histone H2BS14 kinase activity (IEA)

histone H2BS36 kinase activity (IEA)

histone H3S10 kinase activity (IEA)

histone H3S28 kinase activity (IEA)

histone H3S57 kinase activity (IEA)

histone H3T11 kinase activity (IEA)

histone H3T3 kinase activity (IEA)

histone H3T45 kinase activity (IEA)

histone H3T6 kinase activity (IEA)

histone H4S1 kinase activity (IEA)

MAP kinase kinase kinase activity (IBA,IEA,ISO)

metal ion binding (IEA)

protein binding (IPI)

protein kinase activity (IEA,TAS)

protein serine kinase activity (IEA)

protein serine/threonine kinase activity (IDA,IEA)

Rho-dependent protein serine/threonine kinase activity (IEA)

ribosomal protein S6 kinase activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

acute myeloid leukemia pathway (IEA)

ceramide signaling pathway (IEA)

chronic myeloid leukemia pathway (IEA)

colorectal cancer pathway (IEA)

endometrial cancer pathway (IEA)

epidermal growth factor/neuregulin signaling pathway (IEA)

glioma pathway (IEA)

hepatitis C pathway (IEA)

insulin signaling pathway (IEA)

long term depression (IEA)

long term potentiation (IEA)

melanoma pathway (IEA)

non-small cell lung carcinoma pathway (IEA)

pancreatic cancer pathway (IEA)

prostate cancer pathway (IEA)

renal cell carcinoma pathway (IEA)

the extracellular signal-regulated Raf/Mek/Erk signaling pathway (TAS)

urinary bladder cancer pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

Cutaneous melanoma (IAGP)

Lung adenocarcinoma (IAGP)

Non-small cell lung carcinoma (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	IGFBP2 expression predicts IDH-mutant glioma patient survival.	Huang LE, etal., Oncotarget. 2017 Jan 3;8(1):191-202. doi: 10.18632/oncotarget.13329.
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	MEK1/2 dual-specificity protein kinases: Structure and regulation.	Roskoski R Jr Biochem Biophys Res Commun. 2012 Jan 6;417(1):5-10. Epub 2011 Dec 8.

Additional References at PubMed

PMID:1262038	PMID:2717185	PMID:3029685	PMID:3529082	PMID:7731720	PMID:8020955	PMID:8157000	PMID:8394352	PMID:8619474	PMID:8621729	PMID:9042965	PMID:9110174
PMID:10848612	PMID:10967104	PMID:11812000	PMID:11909642	PMID:11952167	PMID:11969417	PMID:12477932	PMID:12620389	PMID:14684750	PMID:14688025	PMID:15324660	PMID:15489334
PMID:15736953	PMID:15763428	PMID:15772651	PMID:15778465	PMID:16189514	PMID:16344560	PMID:16964243	PMID:16980614	PMID:17081983	PMID:17353931	PMID:17380122	PMID:17535970
PMID:17603482	PMID:17979178	PMID:18662992	PMID:19608861	PMID:19667065	PMID:19933840	PMID:20052757	PMID:20130576	PMID:20145135	PMID:20706999	PMID:20936779	PMID:21873635
PMID:21903422	PMID:21988832	PMID:22268729	PMID:22609986	PMID:22926515	PMID:22939624	PMID:23352452	PMID:23591895	PMID:23602568	PMID:24114843	PMID:24189400	PMID:24255178
PMID:24441586	PMID:24447338	PMID:24457600	PMID:24652991	PMID:24746704	PMID:25036637	PMID:25097033	PMID:25241761	PMID:25266655	PMID:25416956	PMID:25476789	PMID:25608663
PMID:25674762	PMID:25852190	PMID:26389662	PMID:26496610	PMID:26508523	PMID:26673895	PMID:26871637	PMID:26891695	PMID:26972000	PMID:27173435	PMID:27684187	PMID:28205554
PMID:28514442	PMID:28675297	PMID:28718761	PMID:28883622	PMID:29568061	PMID:29777862	PMID:30021884	PMID:30194290	PMID:30196744	PMID:30595535	PMID:31015455	PMID:31067491
PMID:31091453	PMID:31240132	PMID:31298480	PMID:31300519	PMID:31527615	PMID:31540324	PMID:31620119	PMID:31678930	PMID:31753913	PMID:31980649	PMID:32296183	PMID:32707033
PMID:32778845	PMID:32814086	PMID:32877691	PMID:33567341	PMID:33853758	PMID:33953400	PMID:33961781	PMID:34017080	PMID:34079125	PMID:34591612	PMID:34591642	PMID:34709266
PMID:35271311	PMID:35302851	PMID:35379950	PMID:35439318	PMID:35509820	PMID:35563538	PMID:35613620	PMID:35687106	PMID:35906200	PMID:36114006	PMID:36215168	PMID:36398662
PMID:36538041	PMID:36724073	PMID:36736316	PMID:36774506	PMID:36931259	PMID:37314216	PMID:37572153	PMID:37827155	PMID:37931956	PMID:38113892	PMID:38777146

Genomics

Comparative Map Data

ARAF
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	47,561,205 - 47,571,908 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	47,561,205 - 47,571,908 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	47,420,604 - 47,431,307 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	47,305,522 - 47,316,264 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	47,176,760 - 47,187,553	NCBI
Celera	X	51,615,774 - 51,626,577 (+)	NCBI		Celera
Cytogenetic Map	X	p11.3	NCBI
HuRef	X	45,132,731 - 45,143,540 (+)	NCBI		HuRef
CHM1_1	X	47,451,606 - 47,462,422 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	46,971,095 - 46,981,798 (+)	NCBI		T2T-CHM13v2.0

Araf
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	20,663,946 - 20,726,760 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	20,664,053 - 20,726,758 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	20,797,707 - 20,860,521 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	20,797,814 - 20,860,519 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	20,425,669 - 20,437,647 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	20,005,557 - 20,017,477 (+)	NCBI		MGSCv36	mm8
Celera	X	18,979,682 - 18,991,660 (+)	NCBI		Celera
Cytogenetic Map	X	A1.3	NCBI
cM Map	X	16.3	NCBI

Araf
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	3,780,932 - 3,845,919 (-)	NCBI		GRCr8
mRatBN7.2	X	1,227,392 - 1,292,356 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	1,227,392 - 1,239,073 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	1,255,531 - 1,267,209 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	4,731,222 - 4,742,902 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	1,052,386 - 1,064,071 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	1,369,534 - 1,391,603 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	1,379,194 - 1,390,873 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	2,194,385 - 2,206,064 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	12,556,904 - 12,568,583 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	12,562,471 - 12,572,791 (-)	NCBI
Celera	X	1,795,227 - 1,806,868 (-)	NCBI		Celera
Cytogenetic Map	X	q11	NCBI

Araf
(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_004955516	521,479 - 533,212 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955516	521,479 - 532,980 (-)	NCBI	ChiLan1.0	ChiLan1.0

ARAF
(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	49,187,387 - 49,198,328 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	49,190,579 - 49,201,699 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	39,997,026 - 40,007,783 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	47,893,153 - 47,904,643 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	47,893,153 - 47,904,643 (+)	Ensembl	panpan1.1		panPan2

ARAF
(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	41,180,082 - 41,191,579 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	41,180,250 - 41,191,310 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	15,555,116 - 15,566,605 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	41,314,276 - 41,325,765 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	41,314,438 - 41,325,764 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	41,301,898 - 41,313,372 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	41,290,159 - 41,301,648 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	41,382,798 - 41,394,286 (+)	NCBI		UU_Cfam_GSD_1.0

Araf
(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	33,482,616 - 33,494,254 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936502	13,323,355 - 13,335,224 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936502	13,323,365 - 13,335,003 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ARAF
(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	42,078,206 - 42,090,250 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	42,078,202 - 42,090,250 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	47,388,650 - 47,400,702 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3
Pig Cytomap	X	p13	NCBI

LOC103231895
(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	44,738,406 - 44,748,996 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	44,740,181 - 44,748,550 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666566	38,210 - 47,870 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Araf
(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_004624978	100,505 - 110,646 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624978	99,605 - 110,645 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ARAF
31 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	copy number loss	See cases [RCV000053088]	ChrX:41434043..47880733 [GRCh38] ChrX:41293296..47619970 [GRCh37] ChrX:41178240..47625076 [NCBI36] ChrX:Xp11.4-11.23	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 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	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 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	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 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
NM_001654.4(ARAF):c.1034C>G (p.Ala345Gly)	single nucleotide variant	Malignant melanoma [RCV000063964]	ChrX:47567390 [GRCh38] ChrX:47426789 [GRCh37] ChrX:47311733 [NCBI36] ChrX:Xp11.3	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 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	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 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3	copy number gain	See cases [RCV000134956]	ChrX:43361870..50931794 [GRCh38] ChrX:43221119..50674794 [GRCh37] ChrX:43106063..50691534 [NCBI36] ChrX:Xp11.3-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	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 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-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-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 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3	copy number gain	See cases [RCV000137271]	ChrX:44765664..49343053 [GRCh38] ChrX:44624910..49218180 [GRCh37] ChrX:44509854..49105124 [NCBI36] ChrX:Xp11.3-11.23	likely pathogenic
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 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
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 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	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 Xp11.3(chrX:47458962-47567078)x2	copy number gain	See cases [RCV000141919]	ChrX:47458962..47567078 [GRCh38] ChrX:47318361..47426477 [GRCh37] ChrX:47203305..47311421 [NCBI36] ChrX:Xp11.3	uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3	copy number gain	See cases [RCV000141567]	ChrX:46971389..54130971 [GRCh38] ChrX:46818746..53957191 [GRCh37] ChrX:46703690..54174129 [NCBI36] ChrX:Xp11.3-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	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 Xp11.3-11.23(chrX:47437831-47845763)x2	copy number gain	See cases [RCV000143111]	ChrX:47437831..47845763 [GRCh38] ChrX:47297230..47705162 [GRCh37] ChrX:47182174..47590106 [NCBI36] ChrX:Xp11.3-11.23	uncertain significance
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2	copy number gain	See cases [RCV000143089]	ChrX:44632305..47607180 [GRCh38] ChrX:44491551..47466579 [GRCh37] ChrX:44376495..47351523 [NCBI36] ChrX:Xp11.3-11.23	likely 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 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 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	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 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	copy number gain	not provided [RCV000767648]	ChrX:43507300..48929622 [GRCh37] ChrX:Xp11.3-11.23	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 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:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [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:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [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
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:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [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:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [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 Xp22.2-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:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	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:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [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 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001654.5(ARAF):c.640T>G (p.Ser214Ala)	single nucleotide variant	Lung adenocarcinoma [RCV000428557]\|Malignant melanoma of skin [RCV000438348]\|Papillary renal cell carcinoma, sporadic [RCV000421117]	ChrX:47566721 [GRCh38] ChrX:47426120 [GRCh37] ChrX:Xp11.3	likely pathogenic
NM_001654.5(ARAF):c.641C>T (p.Ser214Phe)	single nucleotide variant	Lung adenocarcinoma [RCV000429142]\|Malignant melanoma of skin [RCV000435898]\|Papillary renal cell carcinoma, sporadic [RCV000417875]	ChrX:47566722 [GRCh38] ChrX:47426121 [GRCh37] ChrX:Xp11.3	likely pathogenic
NM_001654.5(ARAF):c.641C>G (p.Ser214Cys)	single nucleotide variant	Lung adenocarcinoma [RCV000436910]\|Malignant melanoma of skin [RCV000427514]\|Non-small cell lung carcinoma [RCV000419218]\|Papillary renal cell carcinoma, sporadic [RCV000430187]	ChrX:47566722 [GRCh38] ChrX:47426121 [GRCh37] ChrX:Xp11.3	likely pathogenic\|not provided
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 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	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 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	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 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 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2	copy number gain	See cases [RCV000511234]	ChrX:46326268..48801984 [GRCh37] ChrX:Xp11.3-11.23	likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001654.5(ARAF):c.498A>T (p.Arg166Ser)	single nucleotide variant	not specified [RCV004300874]	ChrX:47565291 [GRCh38] ChrX:47424690 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.1183C>T (p.His395Tyr)	single nucleotide variant	not specified [RCV004300904]	ChrX:47568824 [GRCh38] ChrX:47428223 [GRCh37] ChrX:Xp11.3	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.23(chrX:60814-48317386)x1	copy number loss	not provided [RCV000753273]	ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NM_001654.5(ARAF):c.1002C>T (p.Ala334=)	single nucleotide variant	not provided [RCV000971836]	ChrX:47567358 [GRCh38] ChrX:47426757 [GRCh37] ChrX:Xp11.3	benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated circulating creatine kinase concentration [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	likely pathogenic
NM_001654.5(ARAF):c.1734G>C (p.Glu578Asp)	single nucleotide variant	not provided [RCV000924352]	ChrX:47571370 [GRCh38] ChrX:47430769 [GRCh37] ChrX:Xp11.3	benign
NM_001654.5(ARAF):c.1413G>A (p.Leu471=)	single nucleotide variant	not provided [RCV000885526]	ChrX:47569651 [GRCh38] ChrX:47429050 [GRCh37] ChrX:Xp11.3	benign
NM_001654.5(ARAF):c.571C>T (p.His191Tyr)	single nucleotide variant	not specified [RCV004284413]	ChrX:47566652 [GRCh38] ChrX:47426051 [GRCh37] ChrX:Xp11.3	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
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 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	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 Xp11.23-11.22(chrX:47179068-54424785)x2	copy number gain	not provided [RCV001537899]	ChrX:47179068..54424785 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
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 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NC_000023.10:g.(?_46696536)_(47436910_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV001309817]	ChrX:46696536..47436910 [GRCh37] ChrX:Xp11.23	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
NC_000023.10:g.(?_47001716)_(50659607_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]\|Neurodegeneration with brain iron accumulation 5 [RCV003105408]\|SLC35A2-congenital disorder of glycosylation [RCV003122412]	ChrX:47001716..50659607 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
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 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_46618120)_(48549553_?)del	deletion	X-linked severe congenital neutropenia [RCV003111118]\|not provided [RCV003122288]	ChrX:46618120..48549553 [GRCh37] ChrX:Xp11.23	pathogenic\|no classifications from unflagged records
NC_000023.10:g.(?_46466387)_(50659607_?)del	deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676]	ChrX:46466387..50659607 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NC_000023.10:g.(?_46466387)_(47489243_?)del	deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003123056]	ChrX:46466387..47489243 [GRCh37] ChrX:Xp11.23	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 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	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 Xp11.4-11.22(chrX:39525562-52832596)x3	copy number gain	not provided [RCV002474503]	ChrX:39525562..52832596 [GRCh37] ChrX:Xp11.4-11.22	pathogenic
NM_001654.5(ARAF):c.449A>G (p.Asn150Ser)	single nucleotide variant	not specified [RCV004197313]	ChrX:47565130 [GRCh38] ChrX:47424529 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.1509G>A (p.Met503Ile)	single nucleotide variant	not specified [RCV004114756]	ChrX:47569982 [GRCh38] ChrX:47429381 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.785G>T (p.Ser262Ile)	single nucleotide variant	not specified [RCV004199502]	ChrX:47567043 [GRCh38] ChrX:47426442 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.484T>C (p.Ser162Pro)	single nucleotide variant	not specified [RCV004117574]	ChrX:47565277 [GRCh38] ChrX:47424676 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.599C>G (p.Pro200Arg)	single nucleotide variant	not specified [RCV004238888]	ChrX:47566680 [GRCh38] ChrX:47426079 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.515C>T (p.Ser172Leu)	single nucleotide variant	not specified [RCV004128877]	ChrX:47565308 [GRCh38] ChrX:47424707 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.1232G>A (p.Arg411Gln)	single nucleotide variant	not specified [RCV004182934]	ChrX:47568873 [GRCh38] ChrX:47428272 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.542C>A (p.Thr181Asn)	single nucleotide variant	not specified [RCV004136419]	ChrX:47565335 [GRCh38] ChrX:47424734 [GRCh37] ChrX:Xp11.3	uncertain significance
NC_000023.10:g.(?_46466387)_(51241672_?)del	deletion	not provided [RCV003154905]	ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NM_001654.5(ARAF):c.650A>G (p.Asn217Ser)	single nucleotide variant	not specified [RCV004287298]	ChrX:47566731 [GRCh38] ChrX:47426130 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.696C>G (p.Ile232Met)	single nucleotide variant	not specified [RCV004280538]	ChrX:47566777 [GRCh38] ChrX:47426176 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.97-7C>T	single nucleotide variant	not provided [RCV003456602]	ChrX:47563219 [GRCh38] ChrX:47422618 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.934C>G (p.Leu312Val)	single nucleotide variant	ARAF-related disorder [RCV003459008]	ChrX:47567290 [GRCh38] ChrX:47426689 [GRCh37] ChrX:Xp11.3	uncertain significance
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	copy number loss	not provided [RCV003483920]	ChrX:36355238..54106257 [GRCh37] ChrX:Xp21.1-11.22	pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	copy number gain	not provided [RCV003485287]	ChrX:44663115..48237646 [GRCh37] ChrX:Xp11.3-11.23	uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	copy number loss	not provided [RCV003483407]	ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NM_001654.5(ARAF):c.126C>T (p.Tyr42=)	single nucleotide variant	not provided [RCV003438200]	ChrX:47563255 [GRCh38] ChrX:47422654 [GRCh37] ChrX:Xp11.3	likely benign
NM_001654.5(ARAF):c.855C>T (p.Ala285=)	single nucleotide variant	not provided [RCV003438201]	ChrX:47567113 [GRCh38] ChrX:47426512 [GRCh37] ChrX:Xp11.3	likely benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	copy number loss	not specified [RCV003986240]	ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	copy number loss	not specified [RCV003986200]	ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001654.5(ARAF):c.329C>T (p.Ala110Val)	single nucleotide variant	not specified [RCV004420086]	ChrX:47565010 [GRCh38] ChrX:47424409 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.808C>G (p.Pro270Ala)	single nucleotide variant	not specified [RCV004420090]	ChrX:47567066 [GRCh38] ChrX:47426465 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.998T>C (p.Val333Ala)	single nucleotide variant	not specified [RCV004420091]	ChrX:47567354 [GRCh38] ChrX:47426753 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.37G>A (p.Glu13Lys)	single nucleotide variant	not specified [RCV004420087]	ChrX:47563004 [GRCh38] ChrX:47422403 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.1106T>G (p.Phe369Cys)	single nucleotide variant	not specified [RCV004420084]	ChrX:47568747 [GRCh38] ChrX:47428146 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.451C>T (p.Arg151Cys)	single nucleotide variant	not specified [RCV004420088]	ChrX:47565132 [GRCh38] ChrX:47424531 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.1528A>G (p.Ser510Gly)	single nucleotide variant	not specified [RCV004420085]	ChrX:47570001 [GRCh38] ChrX:47429400 [GRCh37] ChrX:Xp11.3	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_46466387)_(51241672_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV004580271]	ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NM_001654.5(ARAF):c.142G>C (p.Ala48Pro)	single nucleotide variant	not specified [RCV004664896]	ChrX:47563271 [GRCh38] ChrX:47422670 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.656A>G (p.His219Arg)	single nucleotide variant	not specified [RCV004656237]	ChrX:47566737 [GRCh38] ChrX:47426136 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.1096A>G (p.Ile366Val)	single nucleotide variant	not specified [RCV004664913]	ChrX:47568737 [GRCh38] ChrX:47428136 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.176G>T (p.Cys59Phe)	single nucleotide variant	not specified [RCV004656227]	ChrX:47563305 [GRCh38] ChrX:47422704 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.46C>T (p.Arg16Trp)	single nucleotide variant	not specified [RCV004656210]	ChrX:47563013 [GRCh38] ChrX:47422412 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_001654.5(ARAF):c.880C>G (p.Leu294Val)	single nucleotide variant	not specified [RCV004664901]	ChrX:47567236 [GRCh38] ChrX:47426635 [GRCh37] ChrX:Xp11.3	uncertain significance
GRCh38/hg38 Xp11.3(chrX:46270996-47571920)x2	copy number gain	Intellectual disability [RCV004776408]	ChrX:46270996..47571920 [GRCh38] ChrX:Xp11.3	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR34A	hsa-miR-34a-5p	OncomiRDB	external_info	NA	NA	22102825

Predicted Target Of

	Summary Value
Count of predictions:	1769
Count of miRNA genes:	940
Interacting mature miRNAs:	1106
Transcripts:	ENST00000290277, ENST00000377039, ENST00000377045, ENST00000469505, ENST00000470206, ENST00000489496
Prediction methods:	Microtar, Miranda, Pita, Rnahybrid
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

STS-M13829

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,430,820 - 47,430,988	UniSTS	GRCh37
Build 36	X	47,315,764 - 47,315,932	RGD	NCBI36
Celera	X	51,626,077 - 51,626,245	RGD
Cytogenetic Map	X	p11.4-p11.2	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	45,143,040 - 45,143,208	UniSTS
GeneMap99-GB4 RH Map	X	139.21	UniSTS
NCBI RH Map	X	268.1	UniSTS

G23742

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,430,772 - 47,430,896	UniSTS	GRCh37
Build 36	X	47,315,716 - 47,315,840	RGD	NCBI36
Celera	X	51,626,029 - 51,626,153	RGD
Cytogenetic Map	X	p11.4-p11.2	UniSTS
HuRef	X	45,142,992 - 45,143,116	UniSTS

RH93525

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,431,415 - 47,431,576	UniSTS	GRCh37
Build 36	X	47,316,359 - 47,316,520	RGD	NCBI36
Celera	X	51,626,672 - 51,626,833	RGD
Cytogenetic Map	X	p11.4-p11.2	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	45,143,635 - 45,143,796	UniSTS
GeneMap99-GB4 RH Map	X	142.73	UniSTS

RH79877

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,431,379 - 47,431,587	UniSTS	GRCh37
Build 36	X	47,316,323 - 47,316,531	RGD	NCBI36
Celera	X	51,626,636 - 51,626,844	RGD
Cytogenetic Map	X	p11.4-p11.2	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	45,143,599 - 45,143,807	UniSTS
GeneMap99-GB4 RH Map	X	140.87	UniSTS

RH79745

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,419,736 - 47,419,971	UniSTS	GRCh37
Build 36	X	47,304,680 - 47,304,915	RGD	NCBI36
Celera	X	51,614,994 - 51,615,229	RGD
Cytogenetic Map	X	p11.4-p11.2	UniSTS
HuRef	X	45,131,968 - 45,132,203	UniSTS
GeneMap99-GB4 RH Map	X	137.93	UniSTS

GDB:182582

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,430,487 - 47,430,691	UniSTS	GRCh37
Build 36	X	47,315,431 - 47,315,635	RGD	NCBI36
Celera	X	51,625,743 - 51,625,948	RGD
Cytogenetic Map	X	p11.4-p11.2	UniSTS
HuRef	X	45,142,705 - 45,142,911	UniSTS

PMC193924P5

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,422,430 - 47,422,704	UniSTS	GRCh37
Build 36	X	47,307,374 - 47,307,648	RGD	NCBI36
Celera	X	51,617,686 - 51,617,960	RGD
Cytogenetic Map	X	p11.4-p11.2	UniSTS
HuRef	X	45,134,662 - 45,134,936	UniSTS

WI-6972

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,430,923 - 47,431,247	UniSTS	GRCh37
Build 36	X	47,315,867 - 47,316,191	RGD	NCBI36
Celera	X	51,626,180 - 51,626,504	RGD
Cytogenetic Map	X	p11.4-p11.2	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	45,143,143 - 45,143,467	UniSTS
GeneMap99-GB4 RH Map	X	142.51	UniSTS
Whitehead-RH Map	X	73.6	UniSTS

SGC30176

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,431,176 - 47,431,302	UniSTS	GRCh37
Build 36	X	47,316,120 - 47,316,246	RGD	NCBI36
Celera	X	51,626,433 - 51,626,559	RGD
Cytogenetic Map	X	p11.4-p11.2	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	45,143,396 - 45,143,522	UniSTS
GeneMap99-GB4 RH Map	X	140.98	UniSTS
Whitehead-RH Map	X	73.8	UniSTS
NCBI RH Map	X	198.6	UniSTS

ARAF1__4348

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,430,750 - 47,431,288	UniSTS	GRCh37
Build 36	X	47,315,694 - 47,316,232	RGD	NCBI36
Celera	X	51,626,007 - 51,626,545	RGD
HuRef	X	45,142,970 - 45,143,508	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001256196	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001256197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001654	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB158254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB208831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF052136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300975	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX838505	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007514	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT019864	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA424869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA264472	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC362427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU177914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU177915	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L24038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M13829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U01337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X04790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z84466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000290277 ⟹ ENSP00000290277

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,561,100 - 47,571,920 (+)	Ensembl

Ensembl Acc Id:

ENST00000377039 ⟹ ENSP00000366238

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,561,222 - 47,565,975 (+)	Ensembl

Ensembl Acc Id:

ENST00000377045 ⟹ ENSP00000366244

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,561,205 - 47,571,908 (+)	Ensembl

Ensembl Acc Id:

ENST00000469505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,569,459 - 47,570,252 (+)	Ensembl

Ensembl Acc Id:

ENST00000470206

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,569,986 - 47,571,908 (+)	Ensembl

Ensembl Acc Id:

ENST00000489496

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,563,052 - 47,565,233 (+)	Ensembl

RefSeq Acc Id:

NM_001256196 ⟹ NP_001243125

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	47,561,205 - 47,571,908 (+)	NCBI
HuRef	X	45,132,731 - 45,143,540 (+)	NCBI
CHM1_1	X	47,451,606 - 47,462,422 (+)	NCBI
T2T-CHM13v2.0	X	46,971,095 - 46,981,798 (+)	NCBI

Sequence:

show sequence

AAGAGAGGCCCAAGATGGAGACGGCGGCGGCTGTAGCGGCGTGACAGGAGCCCCATGGCACCTG
CCCAGCCCCACCTCAGCCCATCTTGACAAAATCTAAGGCTCCATGGAGCCACCACGGGGCCCCC
CTGCCAATGGGGCCGAGCCATCCCGGGCAGTGGGCACCGTCAAAGTATACCTGCCCAACAAGCA
ACGCACGGTGGTGACTGTCCGGGATGGCATGAGTGTCTACGACTCTCTAGACAAGGCCCTGAAG
GTGCGGGGTCTAAATCAGGACTGCTGTGTGGTCTACCGACTCATCAAGGGACGAAAGACGGTCA
CTGCCTGGGACACAGCCATTGCTCCCCTGGATGGCGAGGAGCTCATTGTCGAGGTCCTTGAAGA
TGTCCCGCTGACCATGCACAATTTTGTACGGAAGACCTTCTTCAGCCTGGCGTTCTGTGACTTC
TGCCTTAAGTTTCTGTTCCATGGCTTCCGTTGCCAAACCTGTGGCTACAAGTTCCACCAGCATT
GTTCCTCCAAGGTCCCCACAGTCTGTGTTGACATGAGTACCAACCGCCAACAGCCCTCAAGGTT
CTACCACAGTGTCCAGGATTTGTCCGGAGGCTCCAGACAGCATGAGGCTCCCTCGAACCGCCCC
CTGAATGAGTTGCTAACCCCCCAGGGTCCCAGCCCCCGCACCCAGCACTGTGACCCGGAGCACT
TCCCCTTCCCTGCCCCAGCCAATGCCCCCCTACAGCGCATCCGCTCCACGTCCACTCCCAACGT
CCATATGGTCAGCACCACGGCCCCCATGGACTCCAACCTCATCCAGCTCACTGGCCAGAGTTTC
AGCACTGATGCTGCCGGTAGTAGAGGAGGTAGTGATGGAACCCCCCGGGGGAGCCCCAGCCCAG
CCAGCGTGTCCTCGGGGAGGAAGTCCCCACATTCCAAGTCACCAGCAGAGCAGCGCGAGCGGAA
GTCCTTGGCCGATGACAAGAAGAAAGTGAAGAACCTGGGGTACCGGGACTCAGGCTATTACTGG
GAGGTACCACCCAGTGAGGTGCAGCTGCTGAAGAGGATCGGGACGGGCTCGTTTGGCACCGTGT
TTCGAGGGCGGTGGCATGGCGATGTGGCCGTGAAGGTGCTCAAGGTGTCCCAGCCCACAGCTGA
GCAGGCCCAGGCTTTCAAGAATGAGATGCAGGTGCTCAGGAAGACGCGACATGTCAACATCTTG
CTGTTTATGGGCTTCATGACCCGGCCGGGATTTGCCATCATCACACAGTGGTGTGAGGGCTCCA
GCCTCTACCATCACCTGCATGTGGCCGACACACGCTTCGACATGGTCCAGCTCATCGACGTGGC
CCGGCAGACTGCCCAGGGCATGGACTACCTCCATGCCAAGAACATCATCCACCGAGATCTCAAG
TCTAACAACATCTTCCTACATGAGGGGCTCACGGTGAAGATCGGTGACTTTGGCTTGGCCACAG
TGAAGACTCGATGGAGCGGGGCCCAGCCCTTGGAGCAGCCCTCAGGATCTGTGCTGTGGATGGC
AGCTGAGGTGATCCGTATGCAGGACCCGAACCCCTACAGCTTCCAGTCAGACGTCTATGCCTAC
GGGGTTGTGCTCTACGAGCTTATGACTGGCTCACTGCCTTACAGCCACATTGGCTGCCGTGACC
AGATTATCTTTATGGTGGGCCGTGGCTATCTGTCCCCGGACCTCAGCAAAATCTCCAGCAACTG
CCCCAAGGCCATGCGGCGCCTGCTGTCTGACTGCCTCAAGTTCCAGCGGGAGGAGCGGCCCCTC
TTCCCCCAGATCCTGGCCACAATTGAGCTGCTGCAACGGTCACTCCCCAAGATTGAGCGGAGTG
CCTCGGAACCCTCCTTGCACCGCACCCAGGCCGATGAGTTGCCTGCCTGCCTACTCAGCGCAGC
CCGCCTTGTGCCTTAGGCCCCGCCCAAGCCACCAGGGAGCCAATCTCAGCCCTCCACGCCAAGG
AGCCTTGCCCACCAGCCAATCAATGTTCGTCTCTGCCCTGATGCTGCCTCAGGATCCCCCATTC
CCCACCCTGGGAGATGAGGGGGTCCCCATGTGCTTTTCCAGTTCTTCTGGAATTGGGGGACCCC
CGCCAAAGACTGAGCCCCCTGTCTCCTCCATCATTTGGTTTCCTCTTGGCTTTGGGGATACTTC
TAAATTTTGGGAGCTCCTCCATCTCCAATGGCTGGGATTTGTGGCAGGGATTCCACTCAGAACC
TCTCTGGAATTTGTGCCTGATGTGCCTTCCACTGGATTTTGGGGTTCCCAGCACCCCATGTGGA
TTTTGGGGGGTCCCTTTTGTGTCTCCCCCGCCATTCAAGGACTCCTCTCTTTCTTCACCAAGAA
GCACAGAATTCTGCTGGGC

hide sequence

RefSeq Acc Id:

NM_001256197 ⟹ NP_001243126

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	47,561,205 - 47,565,975 (+)	NCBI
GRCh37	X	47,420,499 - 47,431,320 (+)	NCBI
HuRef	X	45,132,731 - 45,143,540 (+)	NCBI
CHM1_1	X	47,451,606 - 47,456,479 (+)	NCBI
T2T-CHM13v2.0	X	46,971,095 - 46,975,865 (+)	NCBI

Sequence:

show sequence

AAGAGAGGCCCAAGATGGAGACGGCGGCGGCTGTAGCGGCGTGACAGGAGCCCCATGGCACCTG
CCCAGCCCCACCTCAGCCCATCTTGACAAAATCTAAGGCTCCATGGAGCCACCACGGGGCCCCC
CTGCCAATGGGGCCGAGCCATCCCGGGCAGTGGGCACCGTCAAAGTATACCTGCCCAACAAGCA
ACGCACGGTGGTGACTGTCCGGGATGGCATGAGTGTCTACGACTCTCTAGACAAGGCCCTGAAG
GTGCGGGGTCTAAATCAGGACTGCTGTGTGGTCTACCGACTCATCAAGGGACGAAAGACGGTCA
CTGCCTGGGACACAGCCATTGCTCCCCTGGATGGCGAGGAGCTCATTGTCGAGGTCCTTGAAGA
TGTCCCGCTGACCATGCACAATTTTGTACGGAAGACCTTCTTCAGCCTGGCGTTCTGTGACTTC
TGCCTTAAGTTTCTGTTCCATGGCTTCCGTTGCCAAACCTGTGGCTACAAGTTCCACCAGCATT
GTTCCTCCAAGGTCCCCACAGTCTGTGTTGACATGAGTACCAACCGCCAACAGTTCTACCACAG
TGTCCAGGATTTGTCCGGAGGCTCCAGACAGCATGAGGCTCCCTCGAACCGCCCCCTGAATGAG
TTGCTAACCCCCCAGGGTCCCAGGTAGGGATGCCTTAGCTGAAGAGCTGCTGGGGGAGAAAAAG
ATCTTGGGGCTCTTGTAGACCACGAGCCATACTTTATTCATTTGTTTACTTGACAAACATTTAT
TGAGCACCTACAAGTGTGAGTAAGGGCATGAAACTGGGACCTTGGGCAAGTCACCTCATTTCTC
TGGGCCTCAGTTTTCTCATCTGTAAAGAGGGGATGATGATACTTTCTACCATATAAAGGTTCTG
GTGAGGCTTAAATGAGTTAAGACATGTTCAGTGCCTAGAACAGGATCTGGTACAGTGTAAATAA
TCAATTTTTTTGTTATTAATTATAAATATATTTATAAGCATCTAACTACTTTGCTAATTCTAGT
ATAATCATACTCAAGCCTTTCCATTTTGAAATACGTATTATTTTATCATAAATTACTTCCCTTT
TATTGCTTTTTTATGTTAAATATTATATAAAACTATAGCTATATTAAAATATATTATTGCTCTA
ATATATATTTTATGATGTGCATATTTTATGGTATATTTATGTTATTGTATCATGTTGTATTACA
TAATTTTATATAATGTAGAACATCATACATGTTTATATGATACATAAAATAAAGTTAGGGTATT
ATTTTAAA

hide sequence

RefSeq Acc Id:

NM_001654 ⟹ NP_001645

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	47,561,205 - 47,571,908 (+)	NCBI
GRCh37	X	47,420,499 - 47,431,320 (+)	NCBI
Build 36	X	47,305,522 - 47,316,264 (+)	NCBI Archive
HuRef	X	45,132,731 - 45,143,540 (+)	NCBI
CHM1_1	X	47,451,606 - 47,462,422 (+)	NCBI
T2T-CHM13v2.0	X	46,971,095 - 46,981,798 (+)	NCBI

Sequence:

show sequence

AAGAGAGGCCCAAGATGGAGACGGCGGCGGCTGTAGCGGCGTGACAGGAGCCCCATGGCACCTG
CCCAGCCCCACCTCAGCCCATCTTGACAAAATCTAAGGCTCCATGGAGCCACCACGGGGCCCCC
CTGCCAATGGGGCCGAGCCATCCCGGGCAGTGGGCACCGTCAAAGTATACCTGCCCAACAAGCA
ACGCACGGTGGTGACTGTCCGGGATGGCATGAGTGTCTACGACTCTCTAGACAAGGCCCTGAAG
GTGCGGGGTCTAAATCAGGACTGCTGTGTGGTCTACCGACTCATCAAGGGACGAAAGACGGTCA
CTGCCTGGGACACAGCCATTGCTCCCCTGGATGGCGAGGAGCTCATTGTCGAGGTCCTTGAAGA
TGTCCCGCTGACCATGCACAATTTTGTACGGAAGACCTTCTTCAGCCTGGCGTTCTGTGACTTC
TGCCTTAAGTTTCTGTTCCATGGCTTCCGTTGCCAAACCTGTGGCTACAAGTTCCACCAGCATT
GTTCCTCCAAGGTCCCCACAGTCTGTGTTGACATGAGTACCAACCGCCAACAGTTCTACCACAG
TGTCCAGGATTTGTCCGGAGGCTCCAGACAGCATGAGGCTCCCTCGAACCGCCCCCTGAATGAG
TTGCTAACCCCCCAGGGTCCCAGCCCCCGCACCCAGCACTGTGACCCGGAGCACTTCCCCTTCC
CTGCCCCAGCCAATGCCCCCCTACAGCGCATCCGCTCCACGTCCACTCCCAACGTCCATATGGT
CAGCACCACGGCCCCCATGGACTCCAACCTCATCCAGCTCACTGGCCAGAGTTTCAGCACTGAT
GCTGCCGGTAGTAGAGGAGGTAGTGATGGAACCCCCCGGGGGAGCCCCAGCCCAGCCAGCGTGT
CCTCGGGGAGGAAGTCCCCACATTCCAAGTCACCAGCAGAGCAGCGCGAGCGGAAGTCCTTGGC
CGATGACAAGAAGAAAGTGAAGAACCTGGGGTACCGGGACTCAGGCTATTACTGGGAGGTACCA
CCCAGTGAGGTGCAGCTGCTGAAGAGGATCGGGACGGGCTCGTTTGGCACCGTGTTTCGAGGGC
GGTGGCATGGCGATGTGGCCGTGAAGGTGCTCAAGGTGTCCCAGCCCACAGCTGAGCAGGCCCA
GGCTTTCAAGAATGAGATGCAGGTGCTCAGGAAGACGCGACATGTCAACATCTTGCTGTTTATG
GGCTTCATGACCCGGCCGGGATTTGCCATCATCACACAGTGGTGTGAGGGCTCCAGCCTCTACC
ATCACCTGCATGTGGCCGACACACGCTTCGACATGGTCCAGCTCATCGACGTGGCCCGGCAGAC
TGCCCAGGGCATGGACTACCTCCATGCCAAGAACATCATCCACCGAGATCTCAAGTCTAACAAC
ATCTTCCTACATGAGGGGCTCACGGTGAAGATCGGTGACTTTGGCTTGGCCACAGTGAAGACTC
GATGGAGCGGGGCCCAGCCCTTGGAGCAGCCCTCAGGATCTGTGCTGTGGATGGCAGCTGAGGT
GATCCGTATGCAGGACCCGAACCCCTACAGCTTCCAGTCAGACGTCTATGCCTACGGGGTTGTG
CTCTACGAGCTTATGACTGGCTCACTGCCTTACAGCCACATTGGCTGCCGTGACCAGATTATCT
TTATGGTGGGCCGTGGCTATCTGTCCCCGGACCTCAGCAAAATCTCCAGCAACTGCCCCAAGGC
CATGCGGCGCCTGCTGTCTGACTGCCTCAAGTTCCAGCGGGAGGAGCGGCCCCTCTTCCCCCAG
ATCCTGGCCACAATTGAGCTGCTGCAACGGTCACTCCCCAAGATTGAGCGGAGTGCCTCGGAAC
CCTCCTTGCACCGCACCCAGGCCGATGAGTTGCCTGCCTGCCTACTCAGCGCAGCCCGCCTTGT
GCCTTAGGCCCCGCCCAAGCCACCAGGGAGCCAATCTCAGCCCTCCACGCCAAGGAGCCTTGCC
CACCAGCCAATCAATGTTCGTCTCTGCCCTGATGCTGCCTCAGGATCCCCCATTCCCCACCCTG
GGAGATGAGGGGGTCCCCATGTGCTTTTCCAGTTCTTCTGGAATTGGGGGACCCCCGCCAAAGA
CTGAGCCCCCTGTCTCCTCCATCATTTGGTTTCCTCTTGGCTTTGGGGATACTTCTAAATTTTG
GGAGCTCCTCCATCTCCAATGGCTGGGATTTGTGGCAGGGATTCCACTCAGAACCTCTCTGGAA
TTTGTGCCTGATGTGCCTTCCACTGGATTTTGGGGTTCCCAGCACCCCATGTGGATTTTGGGGG
GTCCCTTTTGTGTCTCCCCCGCCATTCAAGGACTCCTCTCTTTCTTCACCAAGAAGCACAGAAT
TCTGCTGGGC

hide sequence

Protein Sequences


Protein RefSeqs	NP_001243125	(Get FASTA)	NCBI Sequence Viewer
	NP_001243126	(Get FASTA)	NCBI Sequence Viewer
	NP_001645	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA65219	(Get FASTA)	NCBI Sequence Viewer
	AAB03517	(Get FASTA)	NCBI Sequence Viewer
	AAB08754	(Get FASTA)	NCBI Sequence Viewer
	AAH02466	(Get FASTA)	NCBI Sequence Viewer
	AAH07514	(Get FASTA)	NCBI Sequence Viewer
	AAV38667	(Get FASTA)	NCBI Sequence Viewer
	ALQ33372	(Get FASTA)	NCBI Sequence Viewer
	ALQ33373	(Get FASTA)	NCBI Sequence Viewer
	BAD92068	(Get FASTA)	NCBI Sequence Viewer
	BAE66645	(Get FASTA)	NCBI Sequence Viewer
	BAG59877	(Get FASTA)	NCBI Sequence Viewer
	BAG62597	(Get FASTA)	NCBI Sequence Viewer
	CAA28476	(Get FASTA)	NCBI Sequence Viewer
	CAE85123	(Get FASTA)	NCBI Sequence Viewer
	EAW59310	(Get FASTA)	NCBI Sequence Viewer
	EAW59311	(Get FASTA)	NCBI Sequence Viewer
	EAW59312	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000366238
	ENSP00000366238.1
	ENSP00000366244
	ENSP00000366244.4
GenBank Protein	P10398	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001645 ⟸ NM_001654
- Peptide Label:	isoform 1
- UniProtKB:	Q5H9B2 (UniProtKB/Swiss-Prot), P07557 (UniProtKB/Swiss-Prot), Q5H9B3 (UniProtKB/Swiss-Prot), P10398 (UniProtKB/Swiss-Prot), A0A024R178 (UniProtKB/TrEMBL), A0A0S2Z3F2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEPPRGPPANGAEPSRAVGTVKVYLPNKQRTVVTVRDGMSVYDSLDKALKVRGLNQDCCVVYRL IKGRKTVTAWDTAIAPLDGEELIVEVLEDVPLTMHNFVRKTFFSLAFCDFCLKFLFHGFRCQTC GYKFHQHCSSKVPTVCVDMSTNRQQFYHSVQDLSGGSRQHEAPSNRPLNELLTPQGPSPRTQHC DPEHFPFPAPANAPLQRIRSTSTPNVHMVSTTAPMDSNLIQLTGQSFSTDAAGSRGGSDGTPRG SPSPASVSSGRKSPHSKSPAEQRERKSLADDKKKVKNLGYRDSGYYWEVPPSEVQLLKRIGTGS FGTVFRGRWHGDVAVKVLKVSQPTAEQAQAFKNEMQVLRKTRHVNILLFMGFMTRPGFAIITQW CEGSSLYHHLHVADTRFDMVQLIDVARQTAQGMDYLHAKNIIHRDLKSNNIFLHEGLTVKIGDF GLATVKTRWSGAQPLEQPSGSVLWMAAEVIRMQDPNPYSFQSDVYAYGVVLYELMTGSLPYSHI GCRDQIIFMVGRGYLSPDLSKISSNCPKAMRRLLSDCLKFQREERPLFPQILATIELLQRSLPK IERSASEPSLHRTQADELPACLLSAARLVP hide sequence

RefSeq Acc Id:	NP_001243125 ⟸ NM_001256196
- Peptide Label:	isoform 2
- UniProtKB:	Q96II5 (UniProtKB/TrEMBL), A6NIT1 (UniProtKB/TrEMBL), A0A0S2Z3F2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEPPRGPPANGAEPSRAVGTVKVYLPNKQRTVVTVRDGMSVYDSLDKALKVRGLNQDCCVVYRL IKGRKTVTAWDTAIAPLDGEELIVEVLEDVPLTMHNFVRKTFFSLAFCDFCLKFLFHGFRCQTC GYKFHQHCSSKVPTVCVDMSTNRQQPSRFYHSVQDLSGGSRQHEAPSNRPLNELLTPQGPSPRT QHCDPEHFPFPAPANAPLQRIRSTSTPNVHMVSTTAPMDSNLIQLTGQSFSTDAAGSRGGSDGT PRGSPSPASVSSGRKSPHSKSPAEQRERKSLADDKKKVKNLGYRDSGYYWEVPPSEVQLLKRIG TGSFGTVFRGRWHGDVAVKVLKVSQPTAEQAQAFKNEMQVLRKTRHVNILLFMGFMTRPGFAII TQWCEGSSLYHHLHVADTRFDMVQLIDVARQTAQGMDYLHAKNIIHRDLKSNNIFLHEGLTVKI GDFGLATVKTRWSGAQPLEQPSGSVLWMAAEVIRMQDPNPYSFQSDVYAYGVVLYELMTGSLPY SHIGCRDQIIFMVGRGYLSPDLSKISSNCPKAMRRLLSDCLKFQREERPLFPQILATIELLQRS LPKIERSASEPSLHRTQADELPACLLSAARLVP hide sequence

RefSeq Acc Id:	NP_001243126 ⟸ NM_001256197
- Peptide Label:	isoform 3
- UniProtKB:	Q59HC8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEPPRGPPANGAEPSRAVGTVKVYLPNKQRTVVTVRDGMSVYDSLDKALKVRGLNQDCCVVYRL IKGRKTVTAWDTAIAPLDGEELIVEVLEDVPLTMHNFVRKTFFSLAFCDFCLKFLFHGFRCQTC GYKFHQHCSSKVPTVCVDMSTNRQQFYHSVQDLSGGSRQHEAPSNRPLNELLTPQGPR hide sequence

Ensembl Acc Id:

ENSP00000366238 ⟸ ENST00000377039

Ensembl Acc Id:

ENSP00000366244 ⟸ ENST00000377045

Ensembl Acc Id:

ENSP00000290277 ⟸ ENST00000290277

Protein Domains

Phorbol-ester/DAG-type Protein kinase RBD

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P10398-F1-model_v2	AlphaFold	P10398	1-606	view protein structure

Promoters

RGD ID:

6808491

Promoter ID:

HG_KWN:66612

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000290277, ENST00000377039, UC010NHS.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	47,305,011 - 47,305,852 (+)	MPROMDB

RGD ID:

6853340

Promoter ID:

EP74495

Type:

multiple initiation site

Name:

HS_ARAF1

Description:

V-raf murine sarcoma 3611 viral oncogene homolog 1.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	47,305,557 - 47,305,617	EPD

RGD ID:

6808488

Promoter ID:

HG_KWN:66613

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000056421

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	47,306,926 - 47,307,587 (+)	MPROMDB

RGD ID:

6808489

Promoter ID:

HG_KWN:66614

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid

Transcripts:

UC004DIC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	47,308,861 - 47,309,361 (+)	MPROMDB

RGD ID:

6808487

Promoter ID:

HG_KWN:66615

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000056419, OTTHUMT00000056420

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	47,313,261 - 47,314,237 (+)	MPROMDB

RGD ID:

13605174

Promoter ID:

EPDNEW_H28771

Type:

initiation region

Name:

ARAF_1

Description:

A-Raf proto-oncogene, serine/threonine kinase

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	47,561,206 - 47,561,266	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:646	AgrOrtholog
COSMIC	ARAF	COSMIC
Ensembl Genes	ENSG00000078061	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000377039	ENTREZGENE
	ENST00000377039.2	UniProtKB/Swiss-Prot
	ENST00000377045	ENTREZGENE
	ENST00000377045.9	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.60.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Transferase(Phosphotransferase) domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000078061	GTEx
HGNC ID	HGNC:646	ENTREZGENE
Human Proteome Map	ARAF	Human Proteome Map
InterPro	C1-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DAG/PE-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kinase-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PE/DAG-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Prot_kinase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Protein_kinase_ATP_BS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RBD_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ser-Thr/Tyr_kinase_cat_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ser/Thr_kinase_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ser_Thr_protein_kinase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ubiquitin-like_domsf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:369	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	369	ENTREZGENE
OMIM	311010	OMIM
PANTHER	NON-SPECIFIC SERINE_THREONINE PROTEIN KINASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SERINE-THREONINE PROTEIN KINASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	C1_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Pkinase_Tyr	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA24928	PharmGKB
PRINTS	DAGPEDOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	PROTEIN_KINASE_ATP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_DOM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_ST	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_DAG_PE_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_DAG_PE_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	RBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	S_TKc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SM00109	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF54236	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF56112	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF57889	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024R178	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z3F2	ENTREZGENE, UniProtKB/TrEMBL
	A6NIT1	ENTREZGENE
	ARAF_HUMAN	UniProtKB/Swiss-Prot
	P07557	ENTREZGENE
	P10398	ENTREZGENE
	Q59HC8	ENTREZGENE, UniProtKB/TrEMBL
	Q5H9B2	ENTREZGENE
	Q5H9B3	ENTREZGENE
	Q96II5	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	A6NIT1	UniProtKB/TrEMBL
	P07557	UniProtKB/Swiss-Prot
	Q5H9B2	UniProtKB/Swiss-Prot
	Q5H9B3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2014-07-01	ARAF	A-Raf proto-oncogene, serine/threonine kinase		v-raf murine sarcoma 3611 viral oncogene homolog	Symbol and/or name change	5135510	APPROVED

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

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar