RFX4 (regulatory factor X4) - Rat Genome Database

Name: RFX4
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: RFX4 (regulatory factor X4) Homo sapiens

Analyze

Symbol:

RFX4

Name:

regulatory factor X4

RGD ID:

1354416

HGNC Page

HGNC:9985

Description:

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

NYD-SP10; regulatory factor X 4; regulatory factor X, 4 (influences HLA class II expression); regulatory factor X4, isoform c; testis development protein NYD-SP10; transcription factor NYD-sp10; transcription factor RFX4; winged-helix transcription factor RFX4

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Rfx4 (regulatory factor X, 4 (influences HLA class II expression))	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Rfx4 (regulatory factor X4)	HGNC	Ensembl, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Rfx4 (regulatory factor X4)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	RFX4 (regulatory factor X4)	NCBI	Ortholog
Canis lupus familiaris (dog):	RFX4 (regulatory factor X4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Rfx4 (regulatory factor X4)	NCBI	Ortholog
Sus scrofa (pig):	POLR3B (RNA polymerase III subunit B)	HGNC	EggNOG, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	RFX4 (regulatory factor X4)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Rfx4 (regulatory factor X4)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Rfx4 (regulatory factor X, 4 (influences HLA class II expression))	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Rfx4 (regulatory factor X4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	rfx4 (regulatory factor X, 4)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	RFX1	Alliance	DIOPT (Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	rfx4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	rfx4.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	rfx4.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	106,583,004 - 106,762,803 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	106,583,004 - 106,762,803 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	106,976,782 - 107,156,581 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	105,501,163 - 105,680,711 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	105,479,499 - 105,659,047	NCBI
Celera	12	106,642,624 - 106,822,170 (+)	NCBI		Celera
Cytogenetic Map	12	q23.3	NCBI
HuRef	12	104,036,963 - 104,216,955 (+)	NCBI		HuRef
CHM1_1	12	106,942,490 - 107,122,407 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	106,546,661 - 106,726,445 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dichloroethane (ISO)

1,3-dinitrobenzene (ISO)

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

2-palmitoylglycerol (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP)

3,4-methylenedioxymethamphetamine (ISO)

aflatoxin B1 (EXP)

atrazine (ISO)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

choline (ISO)

CU-O LINKAGE (EXP)

cyanocob(III)alamin (ISO)

decabromodiphenyl ether (EXP,ISO)

dichloroacetic acid (ISO)

dichloromethane (ISO)

dorsomorphin (EXP)

epoxiconazole (ISO)

ethanol (ISO)

folic acid (ISO)

fonofos (EXP)

furan (ISO)

glycine betaine (ISO)

glyphosate (ISO)

hydroxyurea (ISO)

L-methionine (ISO)

mercury dibromide (EXP)

mercury dichloride (ISO)

methylmercury chloride (EXP)

N,N-diethyl-m-toluamide (ISO)

N-ethyl-N-nitrosourea (ISO)

N-methyl-N-nitrosourea (ISO)

N-nitrosodiethylamine (ISO)

p-chloromercuribenzoic acid (EXP)

panobinostat (EXP)

paracetamol (EXP,ISO)

parathion (EXP)

perfluorooctane-1-sulfonic acid (ISO)

permethrin (ISO)

phenobarbital (ISO)

pirinixic acid (ISO)

SB 431542 (EXP)

silver atom (EXP)

silver(0) (EXP)

sodium arsenite (EXP)

terbufos (EXP)

testosterone (ISO)

Tetrachlorobisphenol A (EXP)

tetrachloromethane (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

valproic acid (EXP,ISO)

zinc atom (ISO)

zinc(0) (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cilium assembly (IEA,ISO)

negative regulation of smoothened signaling pathway (IEA,ISO)

positive regulation of transcription by RNA polymerase II (IDA,IEA,ISO)

regulation of DNA-templated transcription (IEA)

regulation of protein processing (IEA,ISO)

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

telencephalon development (IEA,ISO)

Cellular Component

chromatin (ISA)

nucleus (IEA)

Molecular Function

DNA binding (IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IDA)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IDA)

sequence-specific double-stranded DNA binding (IDA)

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:1603086	PMID:8600444	PMID:11682486	PMID:12477932	PMID:12925582	PMID:14701801	PMID:15940297	PMID:16193984	PMID:16271074	PMID:16893423	PMID:17510980	PMID:17903297
PMID:18218630	PMID:18378158	PMID:18673564	PMID:19274049	PMID:19328558	PMID:19490893	PMID:21084426	PMID:21873635	PMID:22458338	PMID:23583979	PMID:24709693	PMID:28473536
PMID:32075484	PMID:38386071

Genomics

Comparative Map Data

RFX4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	106,583,004 - 106,762,803 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	106,583,004 - 106,762,803 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	106,976,782 - 107,156,581 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	105,501,163 - 105,680,711 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	105,479,499 - 105,659,047	NCBI
Celera	12	106,642,624 - 106,822,170 (+)	NCBI		Celera
Cytogenetic Map	12	q23.3	NCBI
HuRef	12	104,036,963 - 104,216,955 (+)	NCBI		HuRef
CHM1_1	12	106,942,490 - 107,122,407 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	106,546,661 - 106,726,445 (+)	NCBI		T2T-CHM13v2.0

Rfx4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	84,591,895 - 84,742,402 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	84,591,926 - 84,742,402 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	84,756,036 - 84,906,538 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	84,756,062 - 84,906,538 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	84,218,793 - 84,369,283 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	84,185,847 - 84,336,337 (+)	NCBI		MGSCv36	mm8
Celera	10	86,730,140 - 86,884,321 (+)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	41.63	NCBI

Rfx4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	20,740,760 - 20,903,355 (-)	NCBI		GRCr8
mRatBN7.2	7	18,853,065 - 19,015,378 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	18,853,322 - 19,014,967 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	7	25,831,358 - 25,909,976 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	25,808,419 - 25,907,849 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	25,966,111 - 26,038,982 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	20,976,369 - 21,052,088 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	7	16,067,975 - 16,205,907 (-)	NCBI		Celera
Cytogenetic Map	7	q13	NCBI

Rfx4
(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_004955405	40,482,958 - 40,649,100 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955405	40,483,391 - 40,648,992 (+)	NCBI	ChiLan1.0	ChiLan1.0

RFX4
(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	10	114,640,787 - 114,818,800 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	114,637,177 - 114,815,197 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	104,152,816 - 104,330,383 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	107,550,254 - 107,724,623 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	107,550,254 - 107,724,623 (+)	Ensembl	panpan1.1		panPan2

RFX4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	31,993,339 - 32,155,896 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	31,994,594 - 32,155,500 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	31,913,332 - 32,075,855 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	32,834,451 - 32,996,735 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	32,834,451 - 32,996,764 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	32,570,501 - 32,732,868 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	32,860,552 - 33,021,634 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	33,046,753 - 33,209,305 (-)	NCBI		UU_Cfam_GSD_1.0

Rfx4
(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_024404945	15,191,534 - 15,346,772 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	8,201,948 - 8,362,603 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	8,201,951 - 8,345,788 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

POLR3B
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	13,590,851 - 13,758,567 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	13,590,845 - 13,758,913 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	13,442,393 - 13,589,186 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RFX4
(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	11	101,790,944 - 101,972,314 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	101,791,212 - 101,972,362 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	143,075,985 - 143,255,187 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rfx4
(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_004624750	2,722,696 - 2,869,668 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624750	2,722,790 - 2,869,676 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RFX4
46 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	copy number loss	See cases [RCV000050807]	Chr12:105234677..112194686 [GRCh38] Chr12:105628455..112632490 [GRCh37] Chr12:104152585..111116873 [NCBI36] Chr12:12q23.3-24.13	pathogenic
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1	copy number loss	See cases [RCV000051320]	Chr12:100670616..108583607 [GRCh38] Chr12:101064394..108977383 [GRCh37] Chr12:99588525..107501512 [NCBI36] Chr12:12q23.1-23.3	pathogenic
NM_213594.3(RFX4):c.175C>T (p.Pro59Ser)	single nucleotide variant	not provided [RCV000122599]	Chr12:106639376 [GRCh38] Chr12:107033154 [GRCh37] Chr12:12q23.3	uncertain significance
GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	copy number loss	See cases [RCV000138537]	Chr12:105644967..108994840 [GRCh38] Chr12:106038745..109432645 [GRCh37] Chr12:104562875..107917026 [NCBI36] Chr12:12q23.3-24.11	uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	copy number gain	See cases [RCV000142447]	Chr12:91044318..109133210 [GRCh38] Chr12:91438095..109571015 [GRCh37] Chr12:89962226..108055398 [NCBI36] Chr12:12q21.33-24.11	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1	copy number loss	See cases [RCV000445832]	Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11	likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_213594.3(RFX4):c.2020C>T (p.Arg674Cys)	single nucleotide variant	not specified [RCV004287558]	Chr12:106761281 [GRCh38] Chr12:107155059 [GRCh37] Chr12:12q23.3	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_213594.3(RFX4):c.1893T>C (p.Ser631=)	single nucleotide variant	not provided [RCV000898261]	Chr12:106750751 [GRCh38] Chr12:107144529 [GRCh37] Chr12:12q23.3	likely benign
NM_213594.3(RFX4):c.44-7448A>G	single nucleotide variant	not provided [RCV000892398]	Chr12:106601349 [GRCh38] Chr12:106995127 [GRCh37] Chr12:12q23.3	benign
GRCh37/hg19 12q23.3(chr12:107119589-107216128)x3	copy number gain	not provided [RCV000847358]	Chr12:107119589..107216128 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.235C>T (p.Arg79Cys)	single nucleotide variant	not provided [RCV003312245]	Chr12:106654271 [GRCh38] Chr12:107048049 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.44-7466C>G	single nucleotide variant	not provided [RCV000885557]	Chr12:106601331 [GRCh38] Chr12:106995109 [GRCh37] Chr12:12q23.3	benign
NM_213594.3(RFX4):c.1245G>A (p.Lys415=)	single nucleotide variant	not provided [RCV000957114]	Chr12:106720770 [GRCh38] Chr12:107114548 [GRCh37] Chr12:12q23.3	benign
NM_213594.3(RFX4):c.2092T>G (p.Ser698Ala)	single nucleotide variant	not provided [RCV000957115]	Chr12:106761353 [GRCh38] Chr12:107155131 [GRCh37] Chr12:12q23.3	benign
GRCh37/hg19 12q23.3(chr12:106510497-107070575)x3	copy number gain	not provided [RCV001006529]	Chr12:106510497..107070575 [GRCh37] Chr12:12q23.3	uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	copy number loss	not provided [RCV001259630]	Chr12:106498814..112252906 [GRCh37] Chr12:12q23.3-24.12	pathogenic
NM_213594.3(RFX4):c.364C>T (p.Arg122Ter)	single nucleotide variant	not provided [RCV001752514]	Chr12:106682041 [GRCh38] Chr12:107075819 [GRCh37] Chr12:12q23.3	uncertain significance
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	copy number loss	not specified [RCV002053016]	Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11	likely pathogenic
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	copy number loss	not provided [RCV001834231]	Chr12:104230462..111984801 [GRCh37] Chr12:12q23.3-24.12	pathogenic
NM_213594.3(RFX4):c.254A>G (p.His85Arg)	single nucleotide variant	not provided [RCV003154418]	Chr12:106654290 [GRCh38] Chr12:107048068 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1433A>G (p.Asn478Ser)	single nucleotide variant	not specified [RCV004100899]	Chr12:106732211 [GRCh38] Chr12:107125989 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.793G>A (p.Gly265Arg)	single nucleotide variant	not specified [RCV004156930]	Chr12:106696406 [GRCh38] Chr12:107090184 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.199del (p.Glu67fs)	deletion	not provided [RCV002462660]	Chr12:106654234 [GRCh38] Chr12:107048012 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.964C>T (p.Arg322Trp)	single nucleotide variant	not specified [RCV004186109]	Chr12:106711482 [GRCh38] Chr12:107105260 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1229T>C (p.Val410Ala)	single nucleotide variant	not specified [RCV004116706]	Chr12:106720050 [GRCh38] Chr12:107113828 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.2039C>T (p.Ser680Leu)	single nucleotide variant	not specified [RCV004217847]	Chr12:106761300 [GRCh38] Chr12:107155078 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1715T>C (p.Leu572Pro)	single nucleotide variant	not specified [RCV004090925]	Chr12:106747518 [GRCh38] Chr12:107141296 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.44-7477C>T	single nucleotide variant	not specified [RCV004102308]	Chr12:106601320 [GRCh38] Chr12:106995098 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.2123G>A (p.Arg708His)	single nucleotide variant	not specified [RCV004111336]	Chr12:106761384 [GRCh38] Chr12:107155162 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.467C>T (p.Thr156Met)	single nucleotide variant	not specified [RCV004158167]	Chr12:106686973 [GRCh38] Chr12:107080751 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.511C>T (p.Arg171Trp)	single nucleotide variant	not specified [RCV004189336]	Chr12:106687017 [GRCh38] Chr12:107080795 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1802C>T (p.Thr601Met)	single nucleotide variant	not specified [RCV004159278]	Chr12:106750660 [GRCh38] Chr12:107144438 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1427G>A (p.Arg476Gln)	single nucleotide variant	not specified [RCV004198490]	Chr12:106732205 [GRCh38] Chr12:107125983 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1865C>T (p.Pro622Leu)	single nucleotide variant	not specified [RCV004226094]	Chr12:106750723 [GRCh38] Chr12:107144501 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.85C>A (p.Arg29Ser)	single nucleotide variant	not specified [RCV004093527]	Chr12:106608838 [GRCh38] Chr12:107002616 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.163C>T (p.Pro55Ser)	single nucleotide variant	not specified [RCV004125645]	Chr12:106639364 [GRCh38] Chr12:107033142 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1636G>A (p.Ala546Thr)	single nucleotide variant	not specified [RCV004182486]	Chr12:106747439 [GRCh38] Chr12:107141217 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.244C>T (p.Leu82Phe)	single nucleotide variant	not specified [RCV004149343]	Chr12:106654280 [GRCh38] Chr12:107048058 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1109G>A (p.Arg370His)	single nucleotide variant	not specified [RCV004168969]	Chr12:106715515 [GRCh38] Chr12:107109293 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1445G>A (p.Arg482Gln)	single nucleotide variant	not specified [RCV004241419]	Chr12:106732223 [GRCh38] Chr12:107126001 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.659A>C (p.Asn220Thr)	single nucleotide variant	not specified [RCV004260663]	Chr12:106689354 [GRCh38] Chr12:107083132 [GRCh37] Chr12:12q23.3	uncertain significance
GRCh37/hg19 12q23.3(chr12:106460580-107090224)x1	copy number loss	not provided [RCV003326873]	Chr12:106460580..107090224 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.494C>T (p.Thr165Ile)	single nucleotide variant	not specified [RCV004354182]	Chr12:106687000 [GRCh38] Chr12:107080778 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1390G>A (p.Val464Met)	single nucleotide variant	not specified [RCV004361137]	Chr12:106732168 [GRCh38] Chr12:107125946 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1481G>A (p.Arg494Gln)	single nucleotide variant	RFX4-related condition [RCV003892323]	Chr12:106732933 [GRCh38] Chr12:107126711 [GRCh37] Chr12:12q23.3	likely benign
NM_213594.3(RFX4):c.1183G>A (p.Glu395Lys)	single nucleotide variant	not specified [RCV004438860]	Chr12:106720004 [GRCh38] Chr12:107113782 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.155C>T (p.Ala52Val)	single nucleotide variant	not specified [RCV004438862]	Chr12:106639356 [GRCh38] Chr12:107033134 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.44-4_44-3dup	duplication	RFX4-related condition [RCV003924576]	Chr12:106608780..106608781 [GRCh38] Chr12:107002558..107002559 [GRCh37] Chr12:12q23.3	likely benign
NM_213594.3(RFX4):c.1028C>T (p.Thr343Met)	single nucleotide variant	not specified [RCV004438859]	Chr12:106715434 [GRCh38] Chr12:107109212 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.787A>G (p.Ile263Val)	single nucleotide variant	not specified [RCV004438865]	Chr12:106696400 [GRCh38] Chr12:107090178 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1652C>T (p.Thr551Met)	single nucleotide variant	not specified [RCV004438861]	Chr12:106747455 [GRCh38] Chr12:107141233 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.1826A>G (p.Tyr609Cys)	single nucleotide variant	not specified [RCV004438863]	Chr12:106750684 [GRCh38] Chr12:107144462 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.760G>A (p.Val254Met)	single nucleotide variant	not specified [RCV004438864]	Chr12:106696373 [GRCh38] Chr12:107090151 [GRCh37] Chr12:12q23.3	uncertain significance
NM_213594.3(RFX4):c.2135A>T (p.Glu712Val)	single nucleotide variant	not specified [RCV004348701]	Chr12:106761396 [GRCh38] Chr12:107155174 [GRCh37] Chr12:12q23.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2411
Count of miRNA genes:	993
Interacting mature miRNAs:	1176
Transcripts:	ENST00000229387, ENST00000357881, ENST00000392842, ENST00000536688, ENST00000536722, ENST00000539967, ENST00000546882, ENST00000549040, ENST00000551640, ENST00000552773, ENST00000552866, ENST00000552917
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

RH98710

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,074,825 - 107,074,908	UniSTS	GRCh37
Build 36	12	105,598,955 - 105,599,038	RGD	NCBI36
Celera	12	106,740,413 - 106,740,496	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,135,233 - 104,135,316	UniSTS
GeneMap99-GB4 RH Map	12	422.01	UniSTS

SHGC-68717

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	106,992,538 - 106,992,804	UniSTS	GRCh37
Build 36	12	105,516,668 - 105,516,934	RGD	NCBI36
Celera	12	106,658,130 - 106,658,396	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,052,816 - 104,053,082	UniSTS
TNG Radiation Hybrid Map	12	52490.0	UniSTS

G54250

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,048,467 - 107,048,691	UniSTS	GRCh37
Build 36	12	105,572,597 - 105,572,821	RGD	NCBI36
Celera	12	106,714,057 - 106,714,281	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,108,878 - 104,109,102	UniSTS

G54190

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,107,418 - 107,107,522	UniSTS	GRCh37
Build 36	12	105,631,548 - 105,631,652	RGD	NCBI36
Celera	12	106,773,010 - 106,773,114	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,167,829 - 104,167,933	UniSTS

G54192

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,018,879 - 107,019,129	UniSTS	GRCh37
Build 36	12	105,543,009 - 105,543,259	RGD	NCBI36
Celera	12	106,684,470 - 106,684,720	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,079,292 - 104,079,542	UniSTS

G54193

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,149,391 - 107,149,626	UniSTS	GRCh37
Build 36	12	105,673,521 - 105,673,756	RGD	NCBI36
Celera	12	106,814,980 - 106,815,215	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,209,764 - 104,209,999	UniSTS

RH120234

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	106,992,082 - 106,992,426	UniSTS	GRCh37
Build 36	12	105,516,212 - 105,516,556	RGD	NCBI36
Celera	12	106,657,674 - 106,658,018	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,052,360 - 104,052,704	UniSTS
TNG Radiation Hybrid Map	12	52490.0	UniSTS

RH123678

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,149,389 - 107,149,698	UniSTS	GRCh37
Build 36	12	105,673,519 - 105,673,828	RGD	NCBI36
Celera	12	106,814,978 - 106,815,287	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,209,762 - 104,210,071	UniSTS
TNG Radiation Hybrid Map	12	52634.0	UniSTS

D12S1848

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	106,991,677 - 106,991,981	UniSTS	GRCh37
Build 36	12	105,515,807 - 105,516,111	RGD	NCBI36
Celera	12	106,657,269 - 106,657,573	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,051,955 - 104,052,259	UniSTS
Stanford-G3 RH Map	12	4511.0	UniSTS
NCBI RH Map	12	697.6	UniSTS

RFX4_2241

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,155,961 - 107,156,738	UniSTS	GRCh37
Build 36	12	105,680,091 - 105,680,868	RGD	NCBI36
Celera	12	106,821,550 - 106,822,328	RGD
HuRef	12	104,216,334 - 104,217,111	UniSTS

D12S1331

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,063,415 - 107,063,688	UniSTS	GRCh37
Build 36	12	105,587,545 - 105,587,818	RGD	NCBI36
Celera	12	106,729,005 - 106,729,276	RGD
Cytogenetic Map	12	q24	UniSTS
Cytogenetic Map	12	q23.3	UniSTS
HuRef	12	104,123,826 - 104,124,097	UniSTS
Marshfield Genetic Map	12	116.08	UniSTS
Genethon Genetic Map	12	116.6	UniSTS
TNG Radiation Hybrid Map	12	52551.0	UniSTS
deCODE Assembly Map	12	121.28	UniSTS

D12S2072

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,132,765 - 107,132,961	UniSTS	GRCh37
Build 36	12	105,656,895 - 105,657,091	RGD	NCBI36
Celera	12	106,798,354 - 106,798,550	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,193,128 - 104,193,332	UniSTS
Marshfield Genetic Map	12	119.55	UniSTS
Stanford-G3 RH Map	12	4520.0	UniSTS
NCBI RH Map	12	700.4	UniSTS

D12S1412

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,156,209 - 107,156,458	UniSTS	GRCh37
Build 36	12	105,680,339 - 105,680,588	RGD	NCBI36
Celera	12	106,821,798 - 106,822,047	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,216,582 - 104,216,831	UniSTS
Whitehead-YAC Contig Map	12		UniSTS

1812

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,106,932 - 107,107,038	UniSTS	GRCh37
Build 36	12	105,631,062 - 105,631,168	RGD	NCBI36
Celera	12	106,772,524 - 106,772,630	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,167,343 - 104,167,449	UniSTS
GeneMap99-GB4 RH Map	12	421.87	UniSTS
NCBI RH Map	12	708.3	UniSTS

D12S2024

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	107,076,263 - 107,076,604	UniSTS	GRCh37
Build 36	12	105,600,393 - 105,600,734	RGD	NCBI36
Celera	12	106,741,851 - 106,742,192	RGD
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	12	q24	UniSTS
HuRef	12	104,136,671 - 104,137,012	UniSTS
TNG Radiation Hybrid Map	12	52568.0	UniSTS
Stanford-G3 RH Map	12	4503.0	UniSTS
GeneMap99-GB4 RH Map	12	422.01	UniSTS
Whitehead-RH Map	12	514.1	UniSTS
Whitehead-YAC Contig Map	12		UniSTS
NCBI RH Map	12	708.3	UniSTS
GeneMap99-G3 RH Map	12	4449.0	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

182

1613

363

Low

131

1421

Below cutoff

1388

1650

969

258

779

141

2907

1259

537

118

548

1122

118

991

1772

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_047074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001206691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_213594	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB044245	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB095365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB095366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB195784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB195785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC009721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC079385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF332192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI002078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI191585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074913	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302837	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY102009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030644	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB445991	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF455710	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000229387 ⟹ ENSP00000229387

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,684,696 - 106,762,803 (+)	Ensembl

RefSeq Acc Id:

ENST00000357881 ⟹ ENSP00000350552

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,601,137 - 106,761,659 (+)	Ensembl

RefSeq Acc Id:

ENST00000392842 ⟹ ENSP00000376585

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,583,004 - 106,762,803 (+)	Ensembl

RefSeq Acc Id:

ENST00000536688

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,601,172 - 106,733,506 (+)	Ensembl

RefSeq Acc Id:

ENST00000536722 ⟹ ENSP00000444163

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,601,166 - 106,715,527 (+)	Ensembl

RefSeq Acc Id:

ENST00000539967 ⟹ ENSP00000473326

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,585,727 - 106,715,544 (+)	Ensembl

RefSeq Acc Id:

ENST00000546882 ⟹ ENSP00000447423

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,583,033 - 106,682,054 (+)	Ensembl

RefSeq Acc Id:

ENST00000549040 ⟹ ENSP00000447735

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,583,645 - 106,686,932 (+)	Ensembl

RefSeq Acc Id:

ENST00000551640 ⟹ ENSP00000448694

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,645,882 - 106,709,430 (+)	Ensembl

RefSeq Acc Id:

ENST00000552773

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,639,332 - 106,683,466 (+)	Ensembl

RefSeq Acc Id:

ENST00000552866

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,684,696 - 106,693,159 (+)	Ensembl

RefSeq Acc Id:

ENST00000552917 ⟹ ENSP00000449732

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	106,684,808 - 106,709,389 (+)	Ensembl

RefSeq Acc Id:

NM_001206691 ⟹ NP_001193620

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	106,601,148 - 106,762,803 (+)	NCBI
GRCh37	12	106,976,685 - 107,156,582 (+)	ENTREZGENE
HuRef	12	104,036,963 - 104,216,955 (+)	ENTREZGENE
CHM1_1	12	106,960,720 - 107,122,407 (+)	NCBI
T2T-CHM13v2.0	12	106,564,809 - 106,726,445 (+)	NCBI

Sequence:

show sequence

AACCCACTGACCTGAGCCACCCCCTGGAGAGGCCACAGCTGCTGGCTTCCTGGGCTTCTCCAAA
CTCCTGTGTGTCGCCACTGCCACCGGCAGGGAGCCAGGAGAGAGACAGAAAGGGGCTGAGACAG
AATGATCAAAAGGAGAGCCCACCCTGGTGCGGGAGGCGACAGGACCAGGCCTCGACGGCGCCGT
TCCACTGAGAGCTGGATTGAAAGATGTCTCAACGAAAGTGAAAACAAACGTTATTCCAGCCACA
CATCTCTGGGGAATGTTTCTAATGATGAAAATGAGGAAAAAGAAAATAATAGAGCATCCAAGCC
CCACTCCACTCCTGCTACTCTGCAATGGCTGGAGGAGAACTATGAGATTGCAGAGGGGGTCTGC
ATCCCTCGCAGTGCCCTCTATATGCATTACCTGGATTTCTGCGAGAAGAATGATACCCAACCTG
TCAATGCTGCCAGCTTTGGAAAGATCATAAGGCAGCAGTTTCCTCAGTTAACCACCAGAAGACT
CGGGACCCGAGGACAGTCAAAGTACCATTACTATGGCATTGCAGTGAAAGAAAGCTCCCAATAT
TATGATGTGATGTATTCCAAGAAAGGAGCTGCCTGGGTGAGTGAGACGGGCAAGAAAGAAGTGA
GCAAACAGACAGTGGCATATTCACCCCGGTCCAAACTCGGAACACTGCTGCCAGAATTTCCCAA
TGTCAAAGATCTAAATCTGCCAGCCAGCCTGCCTGAGGAGAAGGTTTCTACCTTTATTATGATG
TACAGAACACACTGTCAGAGAATACTGGACACTGTAATAAGAGCCAACTTTGATGAGGTTCAAA
GTTTCCTTCTGCACTTTTGGCAAGGAATGCCGCCCCACATGCTGCCTGTGCTGGGCTCCTCCAC
GGTGGTGAACATTGTCGGCGTGTGTGACTCCATCCTCTACAAAGCTATCTCCGGGGTGCTGATG
CCCACTGTGCTGCAGGCATTACCTGACAGCTTAACTCAGGTGATTCGAAAGTTTGCCAAGCAAC
TGGATGAGTGGCTAAAAGTGGCTCTCCACGACCTCCCAGAAAACTTGCGAAACATCAAGTTCGA
ATTGTCGAGAAGGTTCTCCCAAATTCTGAGACGGCAAACATCACTAAATCATCTCTGCCAGGCA
TCTCGAACAGTGATCCACAGTGCAGACATCACGTTCCAAATGCTGGAAGACTGGAGGAACGTGG
ACCTGAACAGCATCACCAAGCAAACCCTTTACACCATGGAAGACTCTCGCGATGAGCACCGGAA
ACTCATCACCCAATTATATCAGGAGTTTGACCATCTCTTGGAGGAGCAGTCTCCCATCGAGTCC
TACATTGAGTGGCTGGATACCATGGTTGACCGCTGTGTTGTGAAGGTGGCTGCCAAGAGACAAG
GGTCCTTGAAGAAAGTGGCCCAGCAGTTCCTCTTGATGTGGTCCTGTTTCGGCACAAGGGTGAT
CCGGGACATGACCTTGCACAGCGCCCCCAGCTTCGGGTCTTTTCACCTAATTCACTTAATGTTT
GATGACTACGTGCTCTACCTGTTAGAATCTCTGCACTGTCAGGAGCGGGCCAATGAGCTCATGC
GAGCCATGAAGGGAGAAGGAAGCACTGCAGAAGTCCGAGAAGAGATCATCTTGACAGAGGCTGC
CGCACCAACCCCTTCACCAGTGCCATCGTTTTCTCCAGCAAAATCTGCCACATCTGTGGAAGTG
CCACCTCCCTCTTCCCCTGTTAGCAATCCTTCCCCTGAGTACACTGGCCTCAGCACTACAGGAG
CAATGCAGTCTTACACGTGGTCTCTAACATACACAGTGACGACGGCTGCTGGGTCCCCAGCTGA
GAACTCCCAACAGCTGCCCTGTATGAGGAACACTCATGTGCCTTCTTCCTCCGTCACACACAGG
ATACCAGTTTATCCCCACAGAGAGGAACATGGATACACGGGAAGCTATAACTATGGGAGCTATG
GCAACCAGCATCCTCACCCCATGCAGAGCCAGTATCCGGCCCTCCCTCATGACACAGCTATCTC
TGGGCCACTCCACTATGCCCCTTACCACAGGAGCTCTGCACAGTACCCTTTTAATAGCCCCACT
TCCCGGATGGAACCTTGTTTGATGAGCAGTACTCCCAGACTGCATCCTACCCCAGTCACTCCCC
GCTGGCCAGAGGTGCCCTCAGCCAACACGTGCTACACAAGCCCGTCTGTGCATTCTGCGAGGTA
CGGAAACTCTAGTGACATGTATACACCTCTGACAACGCGCAGGAATTCTGAATATGAGCACATG
CAACACTTTCCTGGCTTTGCTTACATCAACGGAGAGGCCTCTACAGGATGGGCTAAATGACTGC
TATCATAGGCATCCATATTTAATATTAATAATAATAATTAATAATAATAATAAACCCAACACCC
ATCCCCCAGAAGACTTTATCTCTATACATTGTAACTCATGGGCTATTCCTAAGTGCCCATTTTC
CTAATGAACATGAGGATGGGATCAATGTGGGATGAATAAACTTTAGTTCAGAAACAGGACTTAC
TAAAAGTCAGTGGGACTGGGTTTCTGTAGCCAAGCCAGACTTGACTGTTTCTGTAGAGCACTAT
CTCGGGCAGGCCATTCTGTGCCTTTTCCCTCTGTTCCATGACTTTGCTTTGTGTTGGCAACCAC
TTCTAGTAAGCTACTGATTTTCCTGTTGACAAAATCTCTTTAGTCTTGAAGGATGGATACTGGA
GACAGAATCTGGTTTGTGTTCTTGGATGGGCACATAATTTACCAAGAGCATTCACCTTGCCATC
TGTCTTGTCATTGTACTGTACAAGGAACAGCCCTCAGACGTGTTCTGCACATCCCTTCTTCCTG
GTGGTACCATCCCTATTTCCTGGAGCACCAGGGCTAAATGGGGAGCTATCTGGAAACTCTAGAT
TTTCTGTCATACCCACATCTGTCACAGTACCTGCATTGTCTTGGAATGTAAGCACTGTCTTGAG
GGAAGGAAGAGGTCTGTTCTGTATTGCCTTAAGTTGATTGAGGTTTGTAGGAGACTGGTTCTTC
TACATACAAGGATTTGTCTTAAGTTTGCACAATGGCTAGTGTCAGCAAAAGGCAGGAGAGGGTT
TTTGTTTTTTTTTTAAGTTCTATGAGAATGTGGATTTATGGCATTGAGTATCACACTCAGCTCT
GCTGTGTTAACTTTGTGAAACTGGATGGAACAAACTTTAACTTACCAAGCACCAAGTGTGAAAG
TGACTTTCACGGTTCCTTCATAAAACTATAATAATATCCGACACTTTGATAGAAAAAAATTCAA
AGCTGTGCCTTTGAGCCTATACTATACTGTGTATGTGTGGAAATAAAAATGTATTGTACTTTTG
GAGAATTTTTTGTAGGCATTTTTCTGTCAGATTTGTAGTAATTTGTGAGGTTTGTTAGAGATTA
ATATAGGTTTTCTTTCTGTATTATAAAATGCACCAAGCAATTATGGTGGACCTATTACCCTATG
GGTAAGAAATAAATGGAAATATGACATCGGATGTTTCAGCAACTGTTCTGTAAATAAAATCTTT
GATCACACCACTCAGTGTGATAATTGTGTCTACAGCTAAAATGGAAATAGTTTTATCTGTACAG
TTGTGCAAGATATGAATGGTTTCACACTCAAATAAAAAATATTGAAACGA

hide sequence

RefSeq Acc Id:

NM_032491 ⟹ NP_115880

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	106,684,729 - 106,762,803 (+)	NCBI
GRCh37	12	106,976,685 - 107,156,582 (+)	ENTREZGENE
Build 36	12	105,602,616 - 105,680,711 (+)	NCBI Archive
HuRef	12	104,036,963 - 104,216,955 (+)	ENTREZGENE
CHM1_1	12	107,044,289 - 107,122,407 (+)	NCBI
T2T-CHM13v2.0	12	106,648,395 - 106,726,445 (+)	NCBI

Sequence:

show sequence

AGTTGAGAAGTAGTAGAAGACACGGAAGGCACAGAAGGCAGACTTCGCTCAGCACAAAGAATTT
TCTGATAACCATACTGGCAAAATGAACTGGGCTGCCTTCGGAGGGTCTGAATTCTTCATCCCAG
AAGGCATTCAGATAGATTCGAGATGCCCACTAAGCAGAAATATCACGGAATGGTACCATTACTA
TGGCATTGCAGTGAAAGAAAGCTCCCAATATTATGATGTGATGTATTCCAAGAAAGGAGCTGCC
TGGGTGAGTGAGACGGGCAAGAAAGAAGTGAGCAAACAGACAGTGGCATATTCACCCCGGTCCA
AACTCGGAACACTGCTGCCAGAATTTCCCAATGTCAAAGATCTAAATCTGCCAGCCAGCCTGCC
TGAGGAGAAGGTTTCTACCTTTATTATGATGTACAGAACACACTGTCAGAGAATACTGGACACT
GTAATAAGAGCCAACTTTGATGAGGTTCAAAGTTTCCTTCTGCACTTTTGGCAAGGAATGCCGC
CCCACATGCTGCCTGTGCTGGGCTCCTCCACGGTGGTGAACATTGTCGGCGTGTGTGACTCCAT
CCTCTACAAAGCTATCTCCGGGGTGCTGATGCCCACTGTGCTGCAGGCATTACCTGACAGCTTA
ACTCAGGTGATTCGAAAGTTTGCCAAGCAACTGGATGAGTGGCTAAAAGTGGCTCTCCACGACC
TCCCAGAAAACTTGCGAAACATCAAGTTCGAATTGTCGAGAAGGTTCTCCCAAATTCTGAGACG
GCAAACATCACTAAATCATCTCTGCCAGGCATCTCGAACAGTGATCCACAGTGCAGACATCACG
TTCCAAATGCTGGAAGACTGGAGGAACGTGGACCTGAACAGCATCACCAAGCAAACCCTTTACA
CCATGGAAGACTCTCGCGATGAGCACCGGAAACTCATCACCCAATTATATCAGGAGTTTGACCA
TCTCTTGGAGGAGCAGTCTCCCATCGAGTCCTACATTGAGTGGCTGGATACCATGGTTGACCGC
TGTGTTGTGAAGGTGGCTGCCAAGAGACAAGGGTCCTTGAAGAAAGTGGCCCAGCAGTTCCTCT
TGATGTGGTCCTGTTTCGGCACAAGGGTGATCCGGGACATGACCTTGCACAGCGCCCCCAGCTT
CGGGTCTTTTCACCTAATTCACTTAATGTTTGATGACTACGTGCTCTACCTGTTAGAATCTCTG
CACTGTCAGGAGCGGGCCAATGAGCTCATGCGAGCCATGAAGGGAGAAGGAAGCACTGCAGAAG
TCCGAGAAGAGATCATCTTGACAGAGGCTGCCGCACCAACCCCTTCACCAGTGCCATCGTTTTC
TCCAGCAAAATCTGCCACATCTGTGGAAGTGCCACCTCCCTCTTCCCCTGTTAGCAATCCTTCC
CCTGAGTACACTGGCCTCAGCACTACAGGAGCAATGCAGTCTTACACGTGGTCTCTAACATACA
CAGTGACGACGGCTGCTGGGTCCCCAGCTGAGAACTCCCAACAGCTGCCCTGTATGAGGAACAC
TCATGTGCCTTCTTCCTCCGTCACACACAGGATACCAGTTTATCCCCACAGAGAGGAACATGGA
TACACGGGAAGCTATAACTATGGGAGCTATGGCAACCAGCATCCTCACCCCATGCAGAGCCAGT
ATCCGGCCCTCCCTCATGACACAGCTATCTCTGGGCCACTCCACTATGCCCCTTACCACAGGAG
CTCTGCACAGTACCCTTTTAATAGCCCCACTTCCCGGATGGAACCTTGTTTGATGAGCAGTACT
CCCAGACTGCATCCTACCCCAGTCACTCCCCGCTGGCCAGAGGTGCCCTCAGCCAACACGTGCT
ACACAAGCCCGTCTGTGCATTCTGCGAGGTACGGAAACTCTAGTGACATGTATACACCTCTGAC
AACGCGCAGGAATTCTGAATATGAGCACATGCAACACTTTCCTGGCTTTGCTTACATCAACGGA
GAGGCCTCTACAGGATGGGCTAAATGACTGCTATCATAGGCATCCATATTTAATATTAATAATA
ATAATTAATAATAATAATAAACCCAACACCCATCCCCCAGAAGACTTTATCTCTATACATTGTA
ACTCATGGGCTATTCCTAAGTGCCCATTTTCCTAATGAACATGAGGATGGGATCAATGTGGGAT
GAATAAACTTTAGTTCAGAAACAGGACTTACTAAAAGTCAGTGGGACTGGGTTTCTGTAGCCAA
GCCAGACTTGACTGTTTCTGTAGAGCACTATCTCGGGCAGGCCATTCTGTGCCTTTTCCCTCTG
TTCCATGACTTTGCTTTGTGTTGGCAACCACTTCTAGTAAGCTACTGATTTTCCTGTTGACAAA
ATCTCTTTAGTCTTGAAGGATGGATACTGGAGACAGAATCTGGTTTGTGTTCTTGGATGGGCAC
ATAATTTACCAAGAGCATTCACCTTGCCATCTGTCTTGTCATTGTACTGTACAAGGAACAGCCC
TCAGACGTGTTCTGCACATCCCTTCTTCCTGGTGGTACCATCCCTATTTCCTGGAGCACCAGGG
CTAAATGGGGAGCTATCTGGAAACTCTAGATTTTCTGTCATACCCACATCTGTCACAGTACCTG
CATTGTCTTGGAATGTAAGCACTGTCTTGAGGGAAGGAAGAGGTCTGTTCTGTATTGCCTTAAG
TTGATTGAGGTTTGTAGGAGACTGGTTCTTCTACATACAAGGATTTGTCTTAAGTTTGCACAAT
GGCTAGTGTCAGCAAAAGGCAGGAGAGGGTTTTTGTTTTTTTTTTAAGTTCTATGAGAATGTGG
ATTTATGGCATTGAGTATCACACTCAGCTCTGCTGTGTTAACTTTGTGAAACTGGATGGAACAA
ACTTTAACTTACCAAGCACCAAGTGTGAAAGTGACTTTCACGGTTCCTTCATAAAACTATAATA
ATATCCGACACTTTGATAGAAAAAAATTCAAAGCTGTGCCTTTGAGCCTATACTATACTGTGTA
TGTGTGGAAATAAAAATGTATTGTACTTTTGGAGAATTTTTTGTAGGCATTTTTCTGTCAGATT
TGTAGTAATTTGTGAGGTTTGTTAGAGATTAATATAGGTTTTCTTTCTGTATTATAAAATGCAC
CAAGCAATTATGGTGGACCTATTACCCTATGGGTAAGAAATAAATGGAAATATGACATCGGATG
TTTCAGCAACTGTTCTGTAAATAAAATCTTTGATCACACCACTCAGTGTGATAATTGTGTCTAC
AGCTAAAATGGAAATAGTTTTATCTGTACAGTTGTGCAAGATATGAATGGTTTCACACTCAAAT
AAAAAATATTGAAACGA

hide sequence

RefSeq Acc Id:

NM_213594 ⟹ NP_998759

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	106,583,004 - 106,762,803 (+)	NCBI
GRCh37	12	106,976,685 - 107,156,582 (+)	ENTREZGENE
Build 36	12	105,501,163 - 105,680,711 (+)	NCBI Archive
HuRef	12	104,036,963 - 104,216,955 (+)	ENTREZGENE
CHM1_1	12	106,942,490 - 107,122,407 (+)	NCBI
T2T-CHM13v2.0	12	106,546,661 - 106,726,445 (+)	NCBI

Sequence:

show sequence

GCAAACATTTTGACGGGTTTGGCTTTGCCCGGCTGGATTACTGAGTGTCCCCTTGCTCGCTCGC
TTTTTCTCTCTCCCCCTTCTCCGAGCTCGCTCCCTTCTCTCCCTCTCTCTCCTCTTTTCTTCTT
TCTCTTTTCTTTCCTCTTCTTTTTCTTTTCTTTTCCTTTCCTCCTTTATCCTTGTGCCCCCTCA
CTTTCTGCGTCTCTCTCTCTCCCCTTCTCCCTCCCTCCCTCCCTTCCTCCCTGGGCATCTCTAG
CACAGGGGATCCCCAAACATCAGGACTTTTGGGGGGCGCCTGTGCTGTCCATGGGAAGAGCATG
CATTGTGGGTTACTGGAGGAACCCGACATGGATTCCACAGAGAGCTGGATTGAAAGATGTCTCA
ACGAAAGTGAAAACAAACGTTATTCCAGCCACACATCTCTGGGGAATGTTTCTAATGATGAAAA
TGAGGAAAAAGAAAATAATAGAGCATCCAAGCCCCACTCCACTCCTGCTACTCTGCAATGGCTG
GAGGAGAACTATGAGATTGCAGAGGGGGTCTGCATCCCTCGCAGTGCCCTCTATATGCATTACC
TGGATTTCTGCGAGAAGAATGATACCCAACCTGTCAATGCTGCCAGCTTTGGAAAGATCATAAG
GCAGCAGTTTCCTCAGTTAACCACCAGAAGACTCGGGACCCGAGGACAGTCAAAGTACCATTAC
TATGGCATTGCAGTGAAAGAAAGCTCCCAATATTATGATGTGATGTATTCCAAGAAAGGAGCTG
CCTGGGTGAGTGAGACGGGCAAGAAAGAAGTGAGCAAACAGACAGTGGCATATTCACCCCGGTC
CAAACTCGGAACACTGCTGCCAGAATTTCCCAATGTCAAAGATCTAAATCTGCCAGCCAGCCTG
CCTGAGGAGAAGGTTTCTACCTTTATTATGATGTACAGAACACACTGTCAGAGAATACTGGACA
CTGTAATAAGAGCCAACTTTGATGAGGTTCAAAGTTTCCTTCTGCACTTTTGGCAAGGAATGCC
GCCCCACATGCTGCCTGTGCTGGGCTCCTCCACGGTGGTGAACATTGTCGGCGTGTGTGACTCC
ATCCTCTACAAAGCTATCTCCGGGGTGCTGATGCCCACTGTGCTGCAGGCATTACCTGACAGCT
TAACTCAGGTGATTCGAAAGTTTGCCAAGCAACTGGATGAGTGGCTAAAAGTGGCTCTCCACGA
CCTCCCAGAAAACTTGCGAAACATCAAGTTCGAATTGTCGAGAAGGTTCTCCCAAATTCTGAGA
CGGCAAACATCACTAAATCATCTCTGCCAGGCATCTCGAACAGTGATCCACAGTGCAGACATCA
CGTTCCAAATGCTGGAAGACTGGAGGAACGTGGACCTGAACAGCATCACCAAGCAAACCCTTTA
CACCATGGAAGACTCTCGCGATGAGCACCGGAAACTCATCACCCAATTATATCAGGAGTTTGAC
CATCTCTTGGAGGAGCAGTCTCCCATCGAGTCCTACATTGAGTGGCTGGATACCATGGTTGACC
GCTGTGTTGTGAAGGTGGCTGCCAAGAGACAAGGGTCCTTGAAGAAAGTGGCCCAGCAGTTCCT
CTTGATGTGGTCCTGTTTCGGCACAAGGGTGATCCGGGACATGACCTTGCACAGCGCCCCCAGC
TTCGGGTCTTTTCACCTAATTCACTTAATGTTTGATGACTACGTGCTCTACCTGTTAGAATCTC
TGCACTGTCAGGAGCGGGCCAATGAGCTCATGCGAGCCATGAAGGGAGAAGGAAGCACTGCAGA
AGTCCGAGAAGAGATCATCTTGACAGAGGCTGCCGCACCAACCCCTTCACCAGTGCCATCGTTT
TCTCCAGCAAAATCTGCCACATCTGTGGAAGTGCCACCTCCCTCTTCCCCTGTTAGCAATCCTT
CCCCTGAGTACACTGGCCTCAGCACTACAGGAGCAATGCAGTCTTACACGTGGTCTCTAACATA
CACAGTGACGACGGCTGCTGGGTCCCCAGCTGAGAACTCCCAACAGCTGCCCTGTATGAGGAAC
ACTCATGTGCCTTCTTCCTCCGTCACACACAGGATACCAGTTTATCCCCACAGAGAGGAACATG
GATACACGGGAAGCTATAACTATGGGAGCTATGGCAACCAGCATCCTCACCCCATGCAGAGCCA
GTATCCGGCCCTCCCTCATGACACAGCTATCTCTGGGCCACTCCACTATGCCCCTTACCACAGG
AGCTCTGCACAGTACCCTTTTAATAGCCCCACTTCCCGGATGGAACCTTGTTTGATGAGCAGTA
CTCCCAGACTGCATCCTACCCCAGTCACTCCCCGCTGGCCAGAGGTGCCCTCAGCCAACACGTG
CTACACAAGCCCGTCTGTGCATTCTGCGAGGTACGGAAACTCTAGTGACATGTATACACCTCTG
ACAACGCGCAGGAATTCTGAATATGAGCACATGCAACACTTTCCTGGCTTTGCTTACATCAACG
GAGAGGCCTCTACAGGATGGGCTAAATGACTGCTATCATAGGCATCCATATTTAATATTAATAA
TAATAATTAATAATAATAATAAACCCAACACCCATCCCCCAGAAGACTTTATCTCTATACATTG
TAACTCATGGGCTATTCCTAAGTGCCCATTTTCCTAATGAACATGAGGATGGGATCAATGTGGG
ATGAATAAACTTTAGTTCAGAAACAGGACTTACTAAAAGTCAGTGGGACTGGGTTTCTGTAGCC
AAGCCAGACTTGACTGTTTCTGTAGAGCACTATCTCGGGCAGGCCATTCTGTGCCTTTTCCCTC
TGTTCCATGACTTTGCTTTGTGTTGGCAACCACTTCTAGTAAGCTACTGATTTTCCTGTTGACA
AAATCTCTTTAGTCTTGAAGGATGGATACTGGAGACAGAATCTGGTTTGTGTTCTTGGATGGGC
ACATAATTTACCAAGAGCATTCACCTTGCCATCTGTCTTGTCATTGTACTGTACAAGGAACAGC
CCTCAGACGTGTTCTGCACATCCCTTCTTCCTGGTGGTACCATCCCTATTTCCTGGAGCACCAG
GGCTAAATGGGGAGCTATCTGGAAACTCTAGATTTTCTGTCATACCCACATCTGTCACAGTACC
TGCATTGTCTTGGAATGTAAGCACTGTCTTGAGGGAAGGAAGAGGTCTGTTCTGTATTGCCTTA
AGTTGATTGAGGTTTGTAGGAGACTGGTTCTTCTACATACAAGGATTTGTCTTAAGTTTGCACA
ATGGCTAGTGTCAGCAAAAGGCAGGAGAGGGTTTTTGTTTTTTTTTTAAGTTCTATGAGAATGT
GGATTTATGGCATTGAGTATCACACTCAGCTCTGCTGTGTTAACTTTGTGAAACTGGATGGAAC
AAACTTTAACTTACCAAGCACCAAGTGTGAAAGTGACTTTCACGGTTCCTTCATAAAACTATAA
TAATATCCGACACTTTGATAGAAAAAAATTCAAAGCTGTGCCTTTGAGCCTATACTATACTGTG
TATGTGTGGAAATAAAAATGTATTGTACTTTTGGAGAATTTTTTGTAGGCATTTTTCTGTCAGA
TTTGTAGTAATTTGTGAGGTTTGTTAGAGATTAATATAGGTTTTCTTTCTGTATTATAAAATGC
ACCAAGCAATTATGGTGGACCTATTACCCTATGGGTAAGAAATAAATGGAAATATGACATCGGA
TGTTTCAGCAACTGTTCTGTAAATAAAATCTTTGATCACACCACTCAGTGTGATAATTGTGTCT
ACAGCTAAAATGGAAATAGTTTTATCTGTACAGTTGTGCAAGATATGAATGGTTTCACACTCAA
ATAAAAAATATTGAAACGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001193620	(Get FASTA)	NCBI Sequence Viewer
	NP_115880	(Get FASTA)	NCBI Sequence Viewer
	NP_998759	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH28582	(Get FASTA)	NCBI Sequence Viewer
	AAH30644	(Get FASTA)	NCBI Sequence Viewer
	AAK17191	(Get FASTA)	NCBI Sequence Viewer
	AAM52484	(Get FASTA)	NCBI Sequence Viewer
	BAB59001	(Get FASTA)	NCBI Sequence Viewer
	BAC11288	(Get FASTA)	NCBI Sequence Viewer
	BAE48231	(Get FASTA)	NCBI Sequence Viewer
	BAE48232	(Get FASTA)	NCBI Sequence Viewer
	BAE48237	(Get FASTA)	NCBI Sequence Viewer
	BAE48238	(Get FASTA)	NCBI Sequence Viewer
	BAF84134	(Get FASTA)	NCBI Sequence Viewer
	BAG38061	(Get FASTA)	NCBI Sequence Viewer
	BAG64029	(Get FASTA)	NCBI Sequence Viewer
	CAD38777	(Get FASTA)	NCBI Sequence Viewer
	EAW97782	(Get FASTA)	NCBI Sequence Viewer
	EAW97783	(Get FASTA)	NCBI Sequence Viewer
	EAW97784	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000229387
	ENSP00000229387.5
	ENSP00000350552
	ENSP00000350552.4
	ENSP00000376585
	ENSP00000376585.1
	ENSP00000444163.1
	ENSP00000447423.1
	ENSP00000447735.1
	ENSP00000448694.1
	ENSP00000449732.1
	ENSP00000473326.1
GenBank Protein	Q33E94	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_998759 ⟸ NM_213594
- Peptide Label:	isoform c
- UniProtKB:	Q96S80 (UniProtKB/Swiss-Prot), Q8SNA1 (UniProtKB/Swiss-Prot), Q8NDF9 (UniProtKB/Swiss-Prot), Q8NC78 (UniProtKB/Swiss-Prot), Q8MHQ1 (UniProtKB/Swiss-Prot), Q6YM53 (UniProtKB/Swiss-Prot), Q33E95 (UniProtKB/Swiss-Prot), Q33DW7 (UniProtKB/Swiss-Prot), Q33DW6 (UniProtKB/Swiss-Prot), B2RDW4 (UniProtKB/Swiss-Prot), A8K5Y0 (UniProtKB/Swiss-Prot), Q9BXI0 (UniProtKB/Swiss-Prot), Q33E94 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MHCGLLEEPDMDSTESWIERCLNESENKRYSSHTSLGNVSNDENEEKENNRASKPHSTPATLQW LEENYEIAEGVCIPRSALYMHYLDFCEKNDTQPVNAASFGKIIRQQFPQLTTRRLGTRGQSKYH YYGIAVKESSQYYDVMYSKKGAAWVSETGKKEVSKQTVAYSPRSKLGTLLPEFPNVKDLNLPAS LPEEKVSTFIMMYRTHCQRILDTVIRANFDEVQSFLLHFWQGMPPHMLPVLGSSTVVNIVGVCD SILYKAISGVLMPTVLQALPDSLTQVIRKFAKQLDEWLKVALHDLPENLRNIKFELSRRFSQIL RRQTSLNHLCQASRTVIHSADITFQMLEDWRNVDLNSITKQTLYTMEDSRDEHRKLITQLYQEF DHLLEEQSPIESYIEWLDTMVDRCVVKVAAKRQGSLKKVAQQFLLMWSCFGTRVIRDMTLHSAP SFGSFHLIHLMFDDYVLYLLESLHCQERANELMRAMKGEGSTAEVREEIILTEAAAPTPSPVPS FSPAKSATSVEVPPPSSPVSNPSPEYTGLSTTGAMQSYTWSLTYTVTTAAGSPAENSQQLPCMR NTHVPSSSVTHRIPVYPHREEHGYTGSYNYGSYGNQHPHPMQSQYPALPHDTAISGPLHYAPYH RSSAQYPFNSPTSRMEPCLMSSTPRLHPTPVTPRWPEVPSANTCYTSPSVHSARYGNSSDMYTP LTTRRNSEYEHMQHFPGFAYINGEASTGWAK hide sequence

RefSeq Acc Id:	NP_001193620 ⟸ NM_001206691
- Peptide Label:	isoform d
- UniProtKB:	Q33E94 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIKRRAHPGAGGDRTRPRRRRSTESWIERCLNESENKRYSSHTSLGNVSNDENEEKENNRASKP HSTPATLQWLEENYEIAEGVCIPRSALYMHYLDFCEKNDTQPVNAASFGKIIRQQFPQLTTRRL GTRGQSKYHYYGIAVKESSQYYDVMYSKKGAAWVSETGKKEVSKQTVAYSPRSKLGTLLPEFPN VKDLNLPASLPEEKVSTFIMMYRTHCQRILDTVIRANFDEVQSFLLHFWQGMPPHMLPVLGSST VVNIVGVCDSILYKAISGVLMPTVLQALPDSLTQVIRKFAKQLDEWLKVALHDLPENLRNIKFE LSRRFSQILRRQTSLNHLCQASRTVIHSADITFQMLEDWRNVDLNSITKQTLYTMEDSRDEHRK LITQLYQEFDHLLEEQSPIESYIEWLDTMVDRCVVKVAAKRQGSLKKVAQQFLLMWSCFGTRVI RDMTLHSAPSFGSFHLIHLMFDDYVLYLLESLHCQERANELMRAMKGEGSTAEVREEIILTEAA APTPSPVPSFSPAKSATSVEVPPPSSPVSNPSPEYTGLSTTGAMQSYTWSLTYTVTTAAGSPAE NSQQLPCMRNTHVPSSSVTHRIPVYPHREEHGYTGSYNYGSYGNQHPHPMQSQYPALPHDTAIS GPLHYAPYHRSSAQYPFNSPTSRMEPCLMSSTPRLHPTPVTPRWPEVPSANTCYTSPSVHSARY GNSSDMYTPLTTRRNSEYEHMQHFPGFAYINGEASTGWAK hide sequence

RefSeq Acc Id:	NP_115880 ⟸ NM_032491
- Peptide Label:	isoform a
- UniProtKB:	Q33E94 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNWAAFGGSEFFIPEGIQIDSRCPLSRNITEWYHYYGIAVKESSQYYDVMYSKKGAAWVSETGK KEVSKQTVAYSPRSKLGTLLPEFPNVKDLNLPASLPEEKVSTFIMMYRTHCQRILDTVIRANFD EVQSFLLHFWQGMPPHMLPVLGSSTVVNIVGVCDSILYKAISGVLMPTVLQALPDSLTQVIRKF AKQLDEWLKVALHDLPENLRNIKFELSRRFSQILRRQTSLNHLCQASRTVIHSADITFQMLEDW RNVDLNSITKQTLYTMEDSRDEHRKLITQLYQEFDHLLEEQSPIESYIEWLDTMVDRCVVKVAA KRQGSLKKVAQQFLLMWSCFGTRVIRDMTLHSAPSFGSFHLIHLMFDDYVLYLLESLHCQERAN ELMRAMKGEGSTAEVREEIILTEAAAPTPSPVPSFSPAKSATSVEVPPPSSPVSNPSPEYTGLS TTGAMQSYTWSLTYTVTTAAGSPAENSQQLPCMRNTHVPSSSVTHRIPVYPHREEHGYTGSYNY GSYGNQHPHPMQSQYPALPHDTAISGPLHYAPYHRSSAQYPFNSPTSRMEPCLMSSTPRLHPTP VTPRWPEVPSANTCYTSPSVHSARYGNSSDMYTPLTTRRNSEYEHMQHFPGFAYINGEASTGWA K hide sequence

RefSeq Acc Id:

ENSP00000229387 ⟸ ENST00000229387

RefSeq Acc Id:

ENSP00000447423 ⟸ ENST00000546882

RefSeq Acc Id:

ENSP00000447735 ⟸ ENST00000549040

RefSeq Acc Id:

ENSP00000444163 ⟸ ENST00000536722

RefSeq Acc Id:

ENSP00000376585 ⟸ ENST00000392842

RefSeq Acc Id:

ENSP00000473326 ⟸ ENST00000539967

RefSeq Acc Id:

ENSP00000448694 ⟸ ENST00000551640

RefSeq Acc Id:

ENSP00000449732 ⟸ ENST00000552917

RefSeq Acc Id:

ENSP00000350552 ⟸ ENST00000357881

Protein Domains

RFX-type winged-helix

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q33E94-F1-model_v2	AlphaFold	Q33E94	1-735	view protein structure

Promoters

RGD ID:

6852662

Promoter ID:

EP74142

Type:

multiple initiation site

Name:

HS_RFX4

Description:

Regulatory factor X, 4 (influences HLA class II expression).

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	12	105,602,637 - 105,602,697	EPD

RGD ID:

7225275

Promoter ID:

EPDNEW_H18384

Type:

multiple initiation site

Name:

RFX4_1

Description:

regulatory factor X4

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H18385

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	106,583,004 - 106,583,064	EPDNEW

RGD ID:

7225279

Promoter ID:

EPDNEW_H18385

Type:

initiation region

Name:

RFX4_2

Description:

regulatory factor X4

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H18384

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	106,684,729 - 106,684,789	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:9985	AgrOrtholog
COSMIC	RFX4	COSMIC
Ensembl Genes	ENSG00000111783	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000229387	ENTREZGENE
	ENST00000229387.6	UniProtKB/Swiss-Prot
	ENST00000357881	ENTREZGENE
	ENST00000357881.8	UniProtKB/Swiss-Prot
	ENST00000392842	ENTREZGENE
	ENST00000392842.6	UniProtKB/Swiss-Prot
	ENST00000536722.5	UniProtKB/TrEMBL
	ENST00000539967.6	UniProtKB/TrEMBL
	ENST00000546882.5	UniProtKB/TrEMBL
	ENST00000549040.5	UniProtKB/TrEMBL
	ENST00000551640.5	UniProtKB/TrEMBL
	ENST00000552917.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000111783	GTEx
HGNC ID	HGNC:9985	ENTREZGENE
Human Proteome Map	RFX4	Human Proteome Map
InterPro	DNA-bd_RFX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RFX-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH-like_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:5992	UniProtKB/Swiss-Prot
NCBI Gene	5992	ENTREZGENE
OMIM	603958	OMIM
PANTHER	PTHR12619	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRANSCRIPTION FACTOR RFX4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	RFX_DNA_binding	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA34355	PharmGKB
PROSITE	RFX_DBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF46785	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K5Y0	ENTREZGENE
	B2RDW4	ENTREZGENE
	B4DZB7_HUMAN	UniProtKB/TrEMBL
	F8VRD4_HUMAN	UniProtKB/TrEMBL
	F8VX50_HUMAN	UniProtKB/TrEMBL
	F8VZC4_HUMAN	UniProtKB/TrEMBL
	F8W1T9_HUMAN	UniProtKB/TrEMBL
	Q33DW6	ENTREZGENE
	Q33DW7	ENTREZGENE
	Q33E94	ENTREZGENE
	Q33E95	ENTREZGENE
	Q6YM53	ENTREZGENE
	Q8MHQ1	ENTREZGENE
	Q8NC78	ENTREZGENE
	Q8NDF9	ENTREZGENE
	Q8SNA1	ENTREZGENE
	Q96S80	ENTREZGENE
	Q9BXI0	ENTREZGENE
	R4GMS3_HUMAN	UniProtKB/TrEMBL
	RFX4_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8K5Y0	UniProtKB/Swiss-Prot
	B2RDW4	UniProtKB/Swiss-Prot
	Q33DW6	UniProtKB/Swiss-Prot
	Q33DW7	UniProtKB/Swiss-Prot
	Q33E95	UniProtKB/Swiss-Prot
	Q6YM53	UniProtKB/Swiss-Prot
	Q8MHQ1	UniProtKB/Swiss-Prot
	Q8NC78	UniProtKB/Swiss-Prot
	Q8NDF9	UniProtKB/Swiss-Prot
	Q8SNA1	UniProtKB/Swiss-Prot
	Q96S80	UniProtKB/Swiss-Prot
	Q9BXI0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-08	RFX4	regulatory factor X4		regulatory factor X, 4 (influences HLA class II expression)	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)

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