QRFP (pyroglutamylated RFamide peptide)

Gene: QRFP (pyroglutamylated RFamide peptide) Homo sapiens

Analyze

Symbol:

QRFP

Name:

pyroglutamylated RFamide peptide

RGD ID:

1606909

HGNC Page

HGNC:29982

Description:

Enables neuropeptide hormone activity. Involved in neuropeptide signaling pathway. Predicted to be located in extracellular region.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

26RFa; MGC119794; orexigenic neuropeptide QRFP; P518; P518 precursor protein; prepro-26RFa; prepro-QRFP; RF(Arg-Phe)amide family 26 amino acid peptide (P518); RP11-618A20.5

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	130,892,707 - 130,896,812 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	130,892,707 - 130,896,812 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	133,768,094 - 133,772,199 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	132,758,636 - 132,759,046 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	104,307,102 - 104,307,512 (-)	NCBI		Celera
Cytogenetic Map	9	q34.12	NCBI
HuRef	9	103,255,480 - 103,255,890 (-)	NCBI		HuRef
CHM1_1	9	133,917,427 - 133,917,837 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	143,097,580 - 143,101,684 (-)	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

autosomal recessive limb-girdle muscular dystrophy type 2K (IAGP)

genetic disease (IAGP)

primary coenzyme Q10 deficiency 7 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,2',5,5'-tetrachlorobiphenyl (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

aflatoxin B1 (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

CGP 52608 (EXP)

genistein (ISO)

lipopolysaccharide (EXP)

paracetamol (EXP)

PCB138 (ISO)

potassium dichromate (ISO)

propanal (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

sodium arsenite (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

grooming behavior (IEA)

locomotory behavior (IEA,ISS)

neuropeptide signaling pathway (IBA,IDA,IEA)

positive regulation of blood pressure (IEA,ISS)

regulation of feeding behavior (IEA,ISS)

Cellular Component

cellular_component (ND)

extracellular region (IEA,TAS)

Molecular Function

G protein-coupled receptor binding (IEA,ISO)

neuropeptide hormone activity (IBA,IDA,IEA)

orexigenic neuropeptide QRFP receptor binding (IBA,IEA,ISS)

signaling receptor binding (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:12714592	PMID:12960173	PMID:14657341	PMID:15489334	PMID:15808908	PMID:15891009	PMID:15974952	PMID:16500002	PMID:16754659	PMID:16899066	PMID:20534693
PMID:21530572	PMID:21873635	PMID:22466335	PMID:22863147	PMID:23396314	PMID:23964068	PMID:23979792	PMID:25858563	PMID:30483810

Genomics

Comparative Map Data

QRFP
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	130,892,707 - 130,896,812 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	130,892,707 - 130,896,812 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	133,768,094 - 133,772,199 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	132,758,636 - 132,759,046 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	104,307,102 - 104,307,512 (-)	NCBI		Celera
Cytogenetic Map	9	q34.12	NCBI
HuRef	9	103,255,480 - 103,255,890 (-)	NCBI		HuRef
CHM1_1	9	133,917,427 - 133,917,837 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	143,097,580 - 143,101,684 (-)	NCBI		T2T-CHM13v2.0

Qrfp
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	31,696,180 - 31,700,592 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	31,696,178 - 31,700,592 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	31,806,168 - 31,810,580 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	31,806,166 - 31,810,580 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	31,661,688 - 31,666,038 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	31,628,177 - 31,632,527 (-)	NCBI		MGSCv36	mm8
Celera	2	31,508,856 - 31,513,205 (-)	NCBI		Celera
Cytogenetic Map	2	B	NCBI
cM Map	2	21.89	NCBI

Qrfp
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	35,485,579 - 35,487,902 (-)	NCBI		GRCr8
mRatBN7.2	3	15,088,045 - 15,088,419 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	15,088,045 - 15,088,425 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	18,161,522 - 18,161,896 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	26,746,525 - 26,746,899 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	24,993,882 - 24,994,256 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	9,402,397 - 9,404,354 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	10,036,461 - 10,036,841 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0 Ensembl	3	9,403,840 - 9,404,214 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	15,395,829 - 15,396,203 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	10,912,141 - 10,912,515 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	10,808,304 - 10,808,679 (-)	NCBI
Celera	3	9,835,764 - 9,836,138 (-)	NCBI		Celera
Cytogenetic Map	3	p12	NCBI

Qrfp
(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_004955513	803,630 - 804,034 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955513	802,809 - 805,835 (-)	NCBI	ChiLan1.0	ChiLan1.0

QRFP
(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	11	8,460,368 - 8,467,097 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	8,461,084 - 8,465,203 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	102,008,900 - 102,013,194 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	130,658,415 - 130,662,533 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	130,659,140 - 130,659,550 (-)	Ensembl	panpan1.1		panPan2

QRFP
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	53,110,763 - 53,113,743 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	53,112,586 - 53,112,996 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	52,310,894 - 52,313,876 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	54,011,306 - 54,014,289 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	54,013,135 - 54,013,545 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	52,788,911 - 52,791,894 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	53,109,442 - 53,112,428 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	53,202,385 - 53,205,368 (+)	NCBI		UU_Cfam_GSD_1.0

Qrfp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	198,055,921 - 198,058,340 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936487	17,824,630 - 17,824,977 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936487	17,824,474 - 17,826,867 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

QRFP
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	270,911,878 - 270,912,282 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	270,909,323 - 270,917,674 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	304,834,154 - 304,837,026 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

QRFP
(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	12	7,247,841 - 7,256,677 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666079	8,214,329 - 8,217,588 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Qrfp
(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 1.0	NW_004624760	4,873,578 - 4,874,921 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in QRFP
18 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	copy number gain	See cases [RCV000051009]	Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	copy number gain	See cases [RCV000051040]	Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	copy number loss	See cases [RCV000052935]	Chr9:129949815..132342490 [GRCh38] Chr9:132712094..135217877 [GRCh37] Chr9:131751915..134207698 [NCBI36] Chr9:9q34.11-34.13	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	copy number gain	See cases [RCV000053779]	Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|See cases [RCV000053776]	Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	copy number gain	See cases [RCV000133778]	Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	copy number gain	See cases [RCV000134916]	Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	copy number gain	See cases [RCV000134920]	Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	copy number gain	See cases [RCV000137775]	Chr9:128839676..130912873 [GRCh38] Chr9:131601955..133788260 [GRCh37] Chr9:130641776..132778081 [NCBI36] Chr9:9q34.11-34.12	uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	copy number gain	See cases [RCV000447080]	Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3	pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	copy number gain	See cases [RCV000448784]	Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	copy number gain	Global developmental delay [RCV000626548]	Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3	likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1	copy number loss	not provided [RCV000748671]	Chr9:129370440..133866894 [GRCh37] Chr9:9q33.3-34.12	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1	copy number loss	not provided [RCV000748699]	Chr9:131413885..133866894 [GRCh37] Chr9:9q34.11-34.12	benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NM_198180.3(QRFP):c.105A>G (p.Gly35=)	single nucleotide variant	not provided [RCV000960910]	Chr9:130893734 [GRCh38] Chr9:133769121 [GRCh37] Chr9:9q34.12	benign
NM_198180.3(QRFP):c.228A>T (p.Thr76=)	single nucleotide variant	not provided [RCV000947208]	Chr9:130893611 [GRCh38] Chr9:133768998 [GRCh37] Chr9:9q34.12	benign
NM_198180.3(QRFP):c.203T>A (p.Leu68His)	single nucleotide variant	not provided [RCV000965121]	Chr9:130893636 [GRCh38] Chr9:133769023 [GRCh37] Chr9:9q34.12	benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	copy number loss	not provided [RCV000767561]	Chr9:131670024..134514071 [GRCh37] Chr9:9q34.11-34.13	likely pathogenic
NM_198180.3(QRFP):c.260G>A (p.Arg87His)	single nucleotide variant	not provided [RCV000893216]	Chr9:130893579 [GRCh38] Chr9:133768966 [GRCh37] Chr9:9q34.12	benign
NC_000009.12:g.(?_130664644)_(131523116_?)dup	duplication	Autosomal recessive limb-girdle muscular dystrophy type 2K [RCV001031547]	Chr9:133540031..134398503 [GRCh37] Chr9:9q34.12-34.13	uncertain significance
GRCh37/hg19 9q34.11-34.12(chr9:133276056-133851405)x1	copy number loss	not provided [RCV000849508]	Chr9:133276056..133851405 [GRCh37] Chr9:9q34.11-34.12	uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	pathogenic
NM_198180.3(QRFP):c.239A>G (p.Glu80Gly)	single nucleotide variant	not provided [RCV000959098]	Chr9:130893600 [GRCh38] Chr9:133768987 [GRCh37] Chr9:9q34.12	benign
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NC_000009.11:g.(?_133333768)_(133967174_?)del	deletion	not provided [RCV001902487]	Chr9:133333768..133967174 [GRCh37] Chr9:9q34.11-34.12	uncertain significance
NC_000009.11:g.(?_131857676)_(135942612_?)dup	duplication	not provided [RCV003116730]	Chr9:131857676..135942612 [GRCh37] Chr9:9q34.11-34.2	uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup	duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700]	Chr9:131087402..141016451 [GRCh37] Chr9:9q34.11-34.3	uncertain significance
NM_198180.3(QRFP):c.154G>A (p.Val52Met)	single nucleotide variant	Inborn genetic diseases [RCV002687545]	Chr9:130893685 [GRCh38] Chr9:133769072 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.283A>G (p.Ser95Gly)	single nucleotide variant	Inborn genetic diseases [RCV002910423]	Chr9:130893556 [GRCh38] Chr9:133768943 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.265G>A (p.Gly89Arg)	single nucleotide variant	Inborn genetic diseases [RCV002692227]	Chr9:130893574 [GRCh38] Chr9:133768961 [GRCh37] Chr9:9q34.12	likely benign
NM_198180.3(QRFP):c.295G>A (p.Gly99Ser)	single nucleotide variant	Inborn genetic diseases [RCV002998127]	Chr9:130893544 [GRCh38] Chr9:133768931 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.209T>G (p.Ile70Arg)	single nucleotide variant	Inborn genetic diseases [RCV002954711]	Chr9:130893630 [GRCh38] Chr9:133769017 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.230C>T (p.Ser77Leu)	single nucleotide variant	Inborn genetic diseases [RCV002670500]	Chr9:130893609 [GRCh38] Chr9:133768996 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.395G>A (p.Arg132His)	single nucleotide variant	Inborn genetic diseases [RCV002835909]	Chr9:130893444 [GRCh38] Chr9:133768831 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.136G>C (p.Gly46Arg)	single nucleotide variant	Inborn genetic diseases [RCV002792579]	Chr9:130893703 [GRCh38] Chr9:133769090 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.40C>A (p.Pro14Thr)	single nucleotide variant	Inborn genetic diseases [RCV002809191]	Chr9:130893799 [GRCh38] Chr9:133769186 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.41C>T (p.Pro14Leu)	single nucleotide variant	Inborn genetic diseases [RCV002657598]	Chr9:130893798 [GRCh38] Chr9:133769185 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.104G>A (p.Gly35Glu)	single nucleotide variant	Inborn genetic diseases [RCV003193447]	Chr9:130893735 [GRCh38] Chr9:133769122 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.314G>A (p.Gly105Glu)	single nucleotide variant	Inborn genetic diseases [RCV003211620]	Chr9:130893525 [GRCh38] Chr9:133768912 [GRCh37] Chr9:9q34.12	uncertain significance
NM_198180.3(QRFP):c.323C>T (p.Thr108Ile)	single nucleotide variant	Inborn genetic diseases [RCV003344571]	Chr9:130893516 [GRCh38] Chr9:133768903 [GRCh37] Chr9:9q34.12	uncertain significance
GRCh37/hg19 9q34.11-34.12(chr9:132590008-133880465)x1	copy number loss	not provided [RCV003483082]	Chr9:132590008..133880465 [GRCh37] Chr9:9q34.11-34.12	uncertain significance
GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	copy number loss	not specified [RCV003986823]	Chr9:131815597..134209182 [GRCh37] Chr9:9q34.11-34.13	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	228
Count of miRNA genes:	218
Interacting mature miRNAs:	225
Transcripts:	ENST00000343079
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

PMC299975P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	133,768,791 - 133,769,309	UniSTS	GRCh37
Build 36	9	132,758,612 - 132,759,130	RGD	NCBI36
Celera	9	104,307,078 - 104,307,596	RGD
Cytogenetic Map	9	q34.12	UniSTS
HuRef	9	103,255,456 - 103,255,974	UniSTS

PMC299975P2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	133,768,815 - 133,769,309	UniSTS	GRCh37
Build 36	9	132,758,636 - 132,759,130	RGD	NCBI36
Celera	9	104,307,102 - 104,307,596	RGD
Cytogenetic Map	9	q34.12	UniSTS
HuRef	9	103,255,480 - 103,255,974	UniSTS

UniSTS:482727

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	133,768,815 - 133,769,225	UniSTS	GRCh37
Build 36	9	132,758,636 - 132,759,046	RGD	NCBI36
Celera	9	104,307,102 - 104,307,512	RGD
HuRef	9	103,255,480 - 103,255,890	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

entire extraembryonic component

High

Medium

Low

2070

1426

988

398

1805

914

768

214

1307

1251

566

1188

Below cutoff

281

1446

593

401

1184

286

2449

1159

2799

162

286

115

636

1538

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_198180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB109625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL161733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY438326	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101128	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CV575364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000343079 ⟹ ENSP00000345487

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	130,893,428 - 130,893,838 (-)	Ensembl

RefSeq Acc Id:

ENST00000623824 ⟹ ENSP00000485512

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	130,892,707 - 130,896,812 (-)	Ensembl

RefSeq Acc Id:

NM_198180 ⟹ NP_937823

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	130,892,707 - 130,896,812 (-)	NCBI
GRCh37	9	133,768,815 - 133,769,225 (-)	RGD
Build 36	9	132,758,636 - 132,759,046 (-)	NCBI Archive
Celera	9	104,307,102 - 104,307,512 (-)	RGD
HuRef	9	103,255,480 - 103,255,890 (-)	RGD
CHM1_1	9	133,917,427 - 133,920,811 (-)	NCBI
T2T-CHM13v2.0	9	143,097,580 - 143,101,684 (-)	NCBI

Sequence:

show sequence

CACAGGACAGGGGCACCTCAGGCCATCGGAGGCAGCCCTGGCCTGGGGGATGGAAGCTGGTTCT
GGCCAGCAAAGCTCAGTCATCGGCTTCAATCCGCAGACCCTCCGCCCGAACCTGGGCGCTCAGC
CCCGAAGTGGAGGATCGAGATTCCAGTGCCTTCCTCAGGTCTCTGGGGAAGTGTCCACAGGCTC
TCTATTCCCATGACTTCTGATCCCCCAGCAGCCGGGATGCAGGGGGCAGCCCGCCTGCCCTCTC
ATCAGACTACATCCTGTGTGAGGTTGTTTTTATCAACGCGGTCAGCACTGCCCCTCTTCAACAA
CAGCGTCCCCAATGGAATCCCAGGGTCAGGAATGCGCAGCAGGCAGTCGGCAGAGCAGCAAGCG
CACCGCGGGCCATATAAAGCAGGGAGAGCCCAGGGGCCATGCCTCCTGGACGAGGACCCAGAGC
AGCTCTGCCCAGCCCAGCCCCGGAGCCCAGCGATCCACCAGCCAGCCTTCCTGGGAGCAGTCCC
AGCCACACGATGGTAAGGCCTTACCCCCTGATCTACTTCCTCTTCCTGCCGCTGGGCGCCTGCT
TCCCTCTACTGGACAGAAGAGAGCCCACAGACGCCATGGGTGGCCTCGGAGCTGGAGAACGCTG
GGCCGACCTGGCCATGGGGCCCCGACCCCACTCCGTGTGGGGTTCCTCTCGGTGGCTGAGAGCT
TCACAGCCACAGGCCCTGCTTGTCATAGCCAGGGGGCTGCAGACATCGGGCAGAGAGCATGCTG
GCTGCAGATTCCGCTTCGGGAGGCAGGACGAAGGCAGTGAGGCCACCGGCTTCCTCCCTGCTGC
GGGGGAGAAGACCAGCGGCCCGTTAGGGAACCTGGCTGAGGAGCTCAATGGCTACAGCAGGAAG
AAAGGCGGCTTCAGCTTCCGCTTCGGTCGGCGGTGAAGGGCCAGGACGCCTTGGAAGGATTTGC
TTCTTGGACTCACCCCCATTGTCTTCACTCCTGCCTTCTCCCCCAGTCTCAAAGACCACGACAC
CCAGATGATGTAGGCTTGGTTACGATGAACGATCCATGGTAGGACAGGTTAGGTGTGTGCTTAC
TTTTGATTTCCAACTTTGCTGAAGCGAAAAACTAGGCAGTGTCAAAAAGGAGGCTGTCTTGGAG
CCTCGGTCGTCCCAGCCTCTCTCTTCCCCTGGGGCTTTGACTCCGAGCAGCCCCCTGGCCCCAG
GGGCACGGAGCTGAGGCTGTGGCTGGGCCATGAGTGTGAATAGCAGAGCGAGGCAGCGGGCTGA
GTGCTTACAGTTGGGTAATCAAAGTTGTGACAGTCTCTATAGGCACGACTGCGGCTGACATCAG
AGTGCAAATGAGTGCATTCCACTGGGTACAGAGGATGGTTCTGAAAGTTAAAAATGGGAAAAAA
GAACCCGATCCCCTTCTCCATGCCATGAGCACAAGATCCCCCTGGCAAGAAGCCCCTGCTGTGG
TTTGCCTGCCCCTCTGACCGCAGCCCTTCTCCGCGGCCCAGTGTTAGCCCGGCCAGGAGTCTCC
TGGGAGATGCGTTGGGAAGGAATCCCGTTTTTGCTATAGCAAGGTTGCATTTCACATGTTCAAA
ATCAGAATATGTCGTGTGTATCTTTTCAAATAAAAGTTGTGACAACTGCAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_937823	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI01128	(Get FASTA)	NCBI Sequence Viewer
	AAI01129	(Get FASTA)	NCBI Sequence Viewer
	AAR24354	(Get FASTA)	NCBI Sequence Viewer
	BAC98934	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000345487.1
	ENSP00000485512
	ENSP00000485512.1
GenBank Protein	P83859	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_937823 ⟸ NM_198180
- Peptide Label:	preproprotein
- UniProtKB:	A3KFJ6 (UniProtKB/Swiss-Prot), Q495K6 (UniProtKB/Swiss-Prot), P83859 (UniProtKB/Swiss-Prot), Q495K5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVRPYPLIYFLFLPLGACFPLLDRREPTDAMGGLGAGERWADLAMGPRPHSVWGSSRWLRASQP QALLVIARGLQTSGREHAGCRFRFGRQDEGSEATGFLPAAGEKTSGPLGNLAEELNGYSRKKGG FSFRFGRR hide sequence

RefSeq Acc Id:

ENSP00000485512 ⟸ ENST00000623824

RefSeq Acc Id:

ENSP00000345487 ⟸ ENST00000343079

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P83859-F1-model_v2	AlphaFold	P83859	1-136	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29982	AgrOrtholog
COSMIC	QRFP	COSMIC
Ensembl Genes	ENSG00000188710	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000343079.1	UniProtKB/Swiss-Prot
	ENST00000623824	ENTREZGENE
	ENST00000623824.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000188710	GTEx
HGNC ID	HGNC:29982	ENTREZGENE
Human Proteome Map	QRFP	Human Proteome Map
InterPro	P518	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:347148	UniProtKB/Swiss-Prot
NCBI Gene	347148	ENTREZGENE
OMIM	609795	OMIM
PANTHER	OREXIGENIC NEUROPEPTIDE QRFP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR36476	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	RFamide_26RFa	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162400554	PharmGKB
UniProt	A3KFJ6	ENTREZGENE
	OX26_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q495K5	ENTREZGENE, UniProtKB/TrEMBL
	Q495K6	ENTREZGENE
UniProt Secondary	A3KFJ6	UniProtKB/Swiss-Prot
	Q495K6	UniProtKB/Swiss-Prot

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

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

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

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

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Imported Disease Annotations - ClinVar