PCGF1 (polycomb group ring finger 1)

Gene: PCGF1 (polycomb group ring finger 1) Homo sapiens

Analyze

Symbol:

PCGF1

Name:

polycomb group ring finger 1

RGD ID:

1349943

HGNC Page

HGNC:17615

Description:

Predicted to enable promoter-specific chromatin binding activity. Involved in chromatin remodeling. Located in nucleoplasm. Part of PcG protein complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

2010002K04Rik; FLJ43754; MGC10882; nervous system Polycomb-1; NSPC1; polycomb group RING finger protein 1; RING finger protein 68; RNF3A-2; RNF68

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	2	74,505,043 - 74,507,695 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	74,505,043 - 74,507,695 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	74,732,170 - 74,734,822 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	74,585,678 - 74,588,329 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	74,643,825 - 74,646,441	NCBI
Celera	2	74,563,334 - 74,565,985 (-)	NCBI		Celera
Cytogenetic Map	2	p13.1	NCBI
HuRef	2	74,468,431 - 74,471,082 (-)	NCBI		HuRef
CHM1_1	2	74,661,580 - 74,664,231 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	74,513,608 - 74,522,718 (-)	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

congenital disorder of glycosylation type IIb (IAGP)

dystonia (IAGP)

genetic disease (IAGP)

Methylmalonyl-CoA Epimerase Deficiency (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

2,4-dinitrotoluene (ISO)

2-hydroxypropanoic acid (EXP)

4,4'-sulfonyldiphenol (ISO)

4-amino-2,6-dinitrotoluene (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

amitrole (ISO)

aristolochic acid A (EXP)

arsenite(3-) (EXP)

atrazine (EXP)

benzo[a]pyrene (ISO)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

cannabidiol (EXP)

choline (ISO)

copper(II) sulfate (EXP)

cycloheximide (EXP)

cyclosporin A (EXP)

doxorubicin (EXP)

endosulfan (ISO)

folic acid (ISO)

iron dichloride (EXP)

L-methionine (ISO)

methimazole (ISO)

niclosamide (EXP)

oxaliplatin (ISO)

paracetamol (ISO)

phenobarbital (EXP,ISO)

rac-lactic acid (EXP)

sodium arsenite (ISO)

sulfadimethoxine (ISO)

sunitinib (EXP)

titanium dioxide (ISO)

topotecan (ISO)

triptonide (ISO)

tungsten (ISO)

valproic acid (EXP)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chromatin remodeling (IDA,IMP)

negative regulation of transcription by RNA polymerase II (IBA,IEA)

regulation of DNA-templated transcription (TAS)

Cellular Component

nucleoplasm (IDA)

nucleus (IDA,IEA)

PcG protein complex (IDA,IEA)

PRC1 complex (IBA,IEA)

Molecular Function

metal ion binding (IEA)

promoter-specific chromatin binding (IBA,IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

histone modification pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Dystonia (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	PRC1 complex diversity: where is it taking us?	Gil J and O'Loghlen A, Trends Cell Biol. 2014 Jul 22. pii: S0962-8924(14)00102-0. doi: 10.1016/j.tcb.2014.06.005.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	Occupying chromatin: Polycomb mechanisms for getting to genomic targets, stopping transcriptional traffic, and staying put.	Simon JA and Kingston RE, Mol Cell. 2013 Mar 7;49(5):808-24. doi: 10.1016/j.molcel.2013.02.013.
5.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:11287196	PMID:15315754	PMID:15489334	PMID:15620699	PMID:16189514	PMID:16751776	PMID:16943429	PMID:17088287	PMID:17207965	PMID:18029348	PMID:18460542	PMID:18976975
PMID:19690564	PMID:20431927	PMID:21282530	PMID:21873635	PMID:22325352	PMID:22493164	PMID:22939624	PMID:23395003	PMID:23523425	PMID:24457600	PMID:24981860	PMID:25281560
PMID:25533466	PMID:26151332	PMID:26186194	PMID:26496610	PMID:26638075	PMID:26687479	PMID:26972000	PMID:27107012	PMID:27505670	PMID:27705803	PMID:28394339	PMID:28481362
PMID:28514442	PMID:28786561	PMID:28794006	PMID:28849208	PMID:29386386	PMID:29395067	PMID:29502955	PMID:29985131	PMID:30415952	PMID:30658672	PMID:30804394	PMID:30804502
PMID:30862715	PMID:31617661	PMID:32296183	PMID:32628469	PMID:33468080	PMID:33640491	PMID:33660365	PMID:33961781	PMID:34148069	PMID:34857952	PMID:35140242	PMID:35271311
PMID:35364009	PMID:35439318	PMID:36089195	PMID:36129980	PMID:36815373	PMID:36932196	PMID:38088808	PMID:38297188

Genomics

Comparative Map Data

PCGF1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	74,505,043 - 74,507,695 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	74,505,043 - 74,507,695 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	74,732,170 - 74,734,822 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	74,585,678 - 74,588,329 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	74,643,825 - 74,646,441	NCBI
Celera	2	74,563,334 - 74,565,985 (-)	NCBI		Celera
Cytogenetic Map	2	p13.1	NCBI
HuRef	2	74,468,431 - 74,471,082 (-)	NCBI		HuRef
CHM1_1	2	74,661,580 - 74,664,231 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	74,513,608 - 74,522,718 (-)	NCBI		T2T-CHM13v2.0

Pcgf1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	83,047,573 - 83,057,836 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	83,054,850 - 83,057,836 (+)	Ensembl		GRCm39 Ensembl
GRCm38	6	83,077,552 - 83,080,855 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	83,077,869 - 83,080,855 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	83,028,384 - 83,030,849 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	83,044,048 - 83,046,513 (+)	NCBI		MGSCv36	mm8
Celera	6	85,060,962 - 85,063,427 (+)	NCBI		Celera
Cytogenetic Map	6	C3	NCBI
cM Map	6	35.94	NCBI

Pcgf1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	117,140,144 - 117,144,729 (+)	NCBI		GRCr8
mRatBN7.2	4	115,576,165 - 115,587,019 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	115,583,867 - 115,587,008 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	121,060,942 - 121,063,610 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	116,836,134 - 116,838,802 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	115,450,721 - 115,453,389 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	113,911,129 - 113,913,718 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	113,910,685 - 113,913,687 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	178,596,101 - 178,598,690 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	117,290,410 - 117,292,999 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	4	104,578,940 - 104,581,529 (+)	NCBI		Celera
Cytogenetic Map	4	q34	NCBI

Pcgf1
(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_004955424	11,282,091 - 11,286,753 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955424	11,282,562 - 11,284,970 (+)	NCBI	ChiLan1.0	ChiLan1.0

PCGF1
(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	12	51,879,959 - 51,884,137 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	51,883,903 - 51,886,893 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	74,571,721 - 74,574,468 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	76,077,962 - 76,080,714 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	76,077,962 - 76,080,720 (-)	Ensembl	panpan1.1		panPan2

PCGF1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	17	48,633,207 - 48,642,435 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	17	48,633,332 - 48,635,554 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	17	48,274,395 - 48,283,486 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	17	49,491,958 - 49,501,052 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	17	49,492,226 - 49,495,088 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	17	48,509,085 - 48,518,179 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	17	48,575,839 - 48,584,927 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	17	49,133,545 - 49,142,643 (+)	NCBI		UU_Cfam_GSD_1.0

Pcgf1
(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_024406292	10,015,424 - 10,018,322 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936556	718,615 - 721,908 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936556	719,601 - 722,339 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PCGF1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	3	68,540,674 - 68,543,271 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	71,865,575 - 71,868,290 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PCGF1
(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	14	32,769,805 - 32,772,806 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	32,770,492 - 32,772,804 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	79,398,487 - 79,401,700 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pcgf1
(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_004624749	29,004,390 - 29,010,393 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624749	28,999,506 - 29,007,744 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PCGF1
7 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	copy number gain	See cases [RCV000136053]	Chr2:58279519..83586962 [GRCh38] Chr2:58506654..83814086 [GRCh37] Chr2:58360158..83667597 [NCBI36] Chr2:2p16.1-11.2	pathogenic
GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	copy number gain	See cases [RCV000136651]	Chr2:74432069..75181627 [GRCh38] Chr2:74659196..75408753 [GRCh37] Chr2:74512704..75262261 [NCBI36] Chr2:2p13.1-12	likely benign\|uncertain significance
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3	copy number gain	See cases [RCV000137586]	Chr2:47620388..86702722 [GRCh38] Chr2:47847527..86929845 [GRCh37] Chr2:47701031..86783356 [NCBI36] Chr2:2p16.3-11.2	uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	copy number gain	See cases [RCV000141494]	Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2	benign
GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	copy number loss	See cases [RCV000143456]	Chr2:74375779..75517520 [GRCh38] Chr2:74602906..75744646 [GRCh37] Chr2:74456414..75598154 [NCBI36] Chr2:2p13.1-12	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p13.1(chr2:74707255-74950792)x3	copy number gain	See cases [RCV000448878]	Chr2:74707255..74950792 [GRCh37] Chr2:2p13.1	uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3	copy number gain	See cases [RCV000448688]	Chr2:62245236..86978895 [GRCh37] Chr2:2p15-11.2	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	copy number loss	See cases [RCV000510763]	Chr2:74365484..89129064 [GRCh37] Chr2:2p13.1-11.2	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_032673.3(PCGF1):c.688C>T (p.His230Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003257123]	Chr2:74505383 [GRCh38] Chr2:74732510 [GRCh37] Chr2:2p13.1	uncertain significance
Single allele	deletion	not provided [RCV000714264]	Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3	likely pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	copy number loss	not provided [RCV000682167]	Chr2:74527522..89125488 [GRCh37] Chr2:2p13.1-11.2	pathogenic
Single allele	duplication	not provided [RCV000677942]	Chr2:63671346..85698002 [GRCh37] Chr2:2p15-11.2	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NC_000002.11:g.(?_71004499)_(74779761_?)del	deletion	Dystonic disorder [RCV003113211]\|Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [RCV003113210]\|not provided [RCV003107716]	Chr2:71004499..74779761 [GRCh37] Chr2:2p13.3-13.1	pathogenic\|no classifications from unflagged records
NC_000002.11:g.(?_72359356)_(74779761_?)del	deletion	MOGS-congenital disorder of glycosylation [RCV003109485]\|not provided [RCV003116543]	Chr2:72359356..74779761 [GRCh37] Chr2:2p13.2-13.1	pathogenic\|no classifications from unflagged records
NC_000002.11:g.(?_69240632)_(74779761_?)dup	duplication	not provided [RCV003122858]	Chr2:69240632..74779761 [GRCh37] Chr2:2p13.3-13.1	uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	copy number loss	See cases [RCV002287563]	Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13	pathogenic
NM_032673.3(PCGF1):c.641A>G (p.Asn214Ser)	single nucleotide variant	Inborn genetic diseases [RCV003299683]	Chr2:74505562 [GRCh38] Chr2:74732689 [GRCh37] Chr2:2p13.1	uncertain significance
NM_032673.3(PCGF1):c.99G>T (p.Glu33Asp)	single nucleotide variant	Inborn genetic diseases [RCV002879842]	Chr2:74507142 [GRCh38] Chr2:74734269 [GRCh37] Chr2:2p13.1	uncertain significance
NM_032673.3(PCGF1):c.644C>T (p.Pro215Leu)	single nucleotide variant	Inborn genetic diseases [RCV002993131]	Chr2:74505559 [GRCh38] Chr2:74732686 [GRCh37] Chr2:2p13.1	uncertain significance
NM_032673.3(PCGF1):c.475A>G (p.Lys159Glu)	single nucleotide variant	Inborn genetic diseases [RCV002845065]	Chr2:74506007 [GRCh38] Chr2:74733134 [GRCh37] Chr2:2p13.1	uncertain significance
GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	copy number loss	not provided [RCV003223078]	Chr2:73716761..75347894 [GRCh37] Chr2:2p13.1-12	uncertain significance
NM_032673.3(PCGF1):c.719G>A (p.Arg240His)	single nucleotide variant	Inborn genetic diseases [RCV003344372]	Chr2:74505352 [GRCh38] Chr2:74732479 [GRCh37] Chr2:2p13.1	uncertain significance
NM_032673.3(PCGF1):c.601C>T (p.Arg201Cys)	single nucleotide variant	Inborn genetic diseases [RCV003356255]	Chr2:74505602 [GRCh38] Chr2:74732729 [GRCh37] Chr2:2p13.1	uncertain significance
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	copy number loss	not specified [RCV003986388]	Chr2:71076472..76368354 [GRCh37] Chr2:2p13.3-12	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2017
Count of miRNA genes:	649
Interacting mature miRNAs:	718
Transcripts:	ENST00000233630, ENST00000463744, ENST00000465993, ENST00000475863, ENST00000480844, ENST00000489914, ENST00000496911
Prediction methods:	Microtar, Miranda, 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

RH80457

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	74,732,200 - 74,732,704	UniSTS	GRCh37
Build 36	2	74,585,708 - 74,586,212	RGD	NCBI36
Celera	2	74,563,364 - 74,563,868	RGD
Cytogenetic Map	2	p13.1	UniSTS
HuRef	2	74,468,461 - 74,468,965	UniSTS
GeneMap99-GB4 RH Map	2	240.5	UniSTS

RH99023

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	76,509,630 - 76,509,774	UniSTS	GRCh37
Celera	12	76,176,789 - 76,176,933	RGD
Cytogenetic Map	2	p13.1	UniSTS
HuRef	12	73,559,626 - 73,559,770	UniSTS
GeneMap99-GB4 RH Map	12	315.73	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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

1536

1096

1259

260

1061

150

3014

822

1783

259

1362

1476

124

957

1798

Low

903

1894

467

364

889

315

1342

1375

1951

160

137

247

990

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_032673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024453181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054344227	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF087884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049296	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC004952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU602498	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000233630 ⟹ ENSP00000233630

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	74,505,043 - 74,507,695 (-)	Ensembl

RefSeq Acc Id:

ENST00000463744

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	74,505,368 - 74,505,726 (-)	Ensembl

RefSeq Acc Id:

ENST00000465993

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	74,505,043 - 74,507,151 (-)	Ensembl

RefSeq Acc Id:

ENST00000475863

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	74,505,043 - 74,507,416 (-)	Ensembl

RefSeq Acc Id:

ENST00000480844

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	74,505,146 - 74,507,417 (-)	Ensembl

RefSeq Acc Id:

ENST00000489914

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	74,505,046 - 74,505,610 (-)	Ensembl

RefSeq Acc Id:

ENST00000496911

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	74,506,401 - 74,507,394 (-)	Ensembl

RefSeq Acc Id:

NM_032673 ⟹ NP_116062

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	74,505,043 - 74,507,695 (-)	NCBI
GRCh37	2	74,732,170 - 74,735,707 (-)	NCBI
Build 36	2	74,585,678 - 74,588,329 (-)	NCBI Archive
Celera	2	74,563,334 - 74,565,985 (-)	RGD
HuRef	2	74,468,431 - 74,471,082 (-)	RGD
CHM1_1	2	74,661,580 - 74,664,231 (-)	NCBI
T2T-CHM13v2.0	2	74,513,608 - 74,516,260 (-)	NCBI

Sequence:

show sequence

AGTGGCCGGCTGGGATCAGCCTTTAAGATGGCGTCTCCTCAGGGGGGCCAGATTGCGATCGCGA
TGAGGCTTCGGAACCAGCTCCAGTCAGTGTACAAGATGGACCCGCTACGGAACGAGGAGGAGGT
TCGAGTGAAGATCAAAGACTTGAATGAACACATTGTTTGCTGCCTATGCGCCGGCTACTTCGTG
GATGCCACCACCATCACAGAGTGTCTTCATACTTTCTGCAAGAGTTGTATTGTGAAGTACCTCC
AAACTAGCAAGTACTGCCCCATGTGCAACATTAAGATCCACGAGACACAGCCACTGCTCAACCT
CAAACTGGACCGGGTCATGCAGGACATCGTGTATAAGCTGGTGCCTGGCTTGCAAGACAGTGAA
GAGAAACGGATTCGGGAATTCTACCAGTCCCGAGGTTTGGACCGGGTCACCCAGCCCACTGGGG
AAGAGCCAGCACTGAGCAACCTCGGCCTCCCCTTCAGCAGCTTTGACCACTCTAAAGCCCACTA
CTATCGCTATGATGAGCAGTTGAACCTGTGCCTGGAGCGGCTGAGTTCTGGCAAAGACAAGAAT
AAAAGCGTCCTGCAGAACAAGTATGTCCGATGTTCTGTTAGAGCTGAGGTACGCCATCTCCGGA
GGGTCCTGTGTCACCGCTTGATGCTAAACCCTCAGCATGTGCAGCTCCTTTTTGACAATGAAGT
TCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGCCATCCCCT
TTGCTTTTACAATACAGTGTGAAAGAGAAGAGGAGGTAGGGGCCAAGCCCCCACCCCATCCCAC
TCCCCTTCCCTCCCCAGATATTTATGTGAAATGAACTGCAGCTTTATTTTTTGAAATAAAAACT
TTTAAAAAGCA

hide sequence

RefSeq Acc Id:

XM_054344227 ⟹ XP_054200202

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	74,513,608 - 74,522,718 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_116062	(Get FASTA)	NCBI Sequence Viewer
	XP_054200202	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH04952	(Get FASTA)	NCBI Sequence Viewer
	AAP97183	(Get FASTA)	NCBI Sequence Viewer
	EAW99632	(Get FASTA)	NCBI Sequence Viewer
	EAW99633	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000233630
	ENSP00000233630.6
GenBank Protein	Q9BSM1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_116062 ⟸ NM_032673

- UniProtKB:

Q7Z506 (UniProtKB/Swiss-Prot), Q9BSM1 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MASPQGGQIAIAMRLRNQLQSVYKMDPLRNEEEVRVKIKDLNEHIVCCLCAGYFVDATTITECL
HTFCKSCIVKYLQTSKYCPMCNIKIHETQPLLNLKLDRVMQDIVYKLVPGLQDSEEKRIREFYQ
SRGLDRVTQPTGEEPALSNLGLPFSSFDHSKAHYYRYDEQLNLCLERLSSGKDKNKSVLQNKYV
RCSVRAEVRHLRRVLCHRLMLNPQHVQLLFDNEVLPDHMTMKQIWLSRWFGKPSPLLLQYSVKE
KRR

hide sequence

RefSeq Acc Id:

ENSP00000233630 ⟸ ENST00000233630

RefSeq Acc Id:	XP_054200202 ⟸ XM_054344227
- Peptide Label:	isoform X1
- UniProtKB:	Q9BSM1 (UniProtKB/Swiss-Prot), Q7Z506 (UniProtKB/Swiss-Prot)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BSM1-F1-model_v2	AlphaFold	Q9BSM1	1-259	view protein structure

Promoters

RGD ID:

6860766

Promoter ID:

EPDNEW_H3548

Type:

initiation region

Name:

PCGF1_1

Description:

polycomb group ring finger 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H3549 EPDNEW_H3550

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	74,507,393 - 74,507,453	EPDNEW

RGD ID:

6860768

Promoter ID:

EPDNEW_H3549

Type:

initiation region

Name:

PCGF1_2

Description:

polycomb group ring finger 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H3548 EPDNEW_H3550

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	74,507,678 - 74,507,738	EPDNEW

RGD ID:

6860830

Promoter ID:

EPDNEW_H3550

Type:

initiation region

Name:

PCGF1_3

Description:

polycomb group ring finger 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H3548 EPDNEW_H3549

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	74,513,240 - 74,513,300	EPDNEW

RGD ID:

6797923

Promoter ID:

HG_KWN:33345

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Lymphoblastoid

Transcripts:

OTTHUMT00000328484

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	74,586,249 - 74,586,749 (-)	MPROMDB

RGD ID:

6797922

Promoter ID:

HG_KWN:33346

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:

OTTHUMT00000252216, OTTHUMT00000328375, OTTHUMT00000328376, OTTHUMT00000328482, OTTHUMT00000328483

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	74,587,971 - 74,589,062 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17615	AgrOrtholog
COSMIC	PCGF1	COSMIC
Ensembl Genes	ENSG00000115289	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000233630	ENTREZGENE
	ENST00000233630.11	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.40.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000115289	GTEx
HGNC ID	HGNC:17615	ENTREZGENE
Human Proteome Map	PCGF1	Human Proteome Map
InterPro	RAWUL	UniProtKB/Swiss-Prot
	Znf_RING	UniProtKB/Swiss-Prot
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot
	Znf_RING_CS	UniProtKB/Swiss-Prot
KEGG Report	hsa:84759	UniProtKB/Swiss-Prot
NCBI Gene	84759	ENTREZGENE
OMIM	610231	OMIM
PANTHER	POLYCOMB GROUP RING FINGER PROTEIN 1	UniProtKB/Swiss-Prot
	RING FINGER DOMAIN-CONTAINING, POLYCOMB GROUP COMPONENT	UniProtKB/Swiss-Prot
Pfam	RAWUL	UniProtKB/Swiss-Prot
	zf-C3HC4_2	UniProtKB/Swiss-Prot
PharmGKB	PA134976631	PharmGKB
PROSITE	ZF_RING_1	UniProtKB/Swiss-Prot
	ZF_RING_2	UniProtKB/Swiss-Prot
SMART	RING	UniProtKB/Swiss-Prot
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot
UniProt	PCGF1_HUMAN	UniProtKB/Swiss-Prot
	Q7Z506	ENTREZGENE
	Q9BSM1	ENTREZGENE
UniProt Secondary	Q7Z506	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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