CDC42EP5 (CDC42 effector protein 5)

Gene: CDC42EP5 (CDC42 effector protein 5) Homo sapiens

Analyze

Symbol:

CDC42EP5

Name:

CDC42 effector protein 5

RGD ID:

1318117

HGNC Page

HGNC:17408

Description:

Enables small GTPase binding activity. Involved in positive regulation of actin filament polymerization; positive regulation of pseudopodium assembly; and regulation of cell shape. Located in cytoplasm and membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

1700027J19Rik; 2010007O02Rik; binder of Rho GTPase 3-like; binder of Rho GTPases 3; Borg3; CDC42 effector protein (Rho GTPase binding) 5; CEP5; MGC21945; MGC71153

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	19	54,465,026 - 54,473,296 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	54,465,026 - 54,473,296 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	54,976,210 - 54,984,443 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	59,668,022 - 59,676,234 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	59,668,021 - 59,676,234	NCBI
Celera	19	52,016,789 - 52,024,999 (-)	NCBI		Celera
Cytogenetic Map	19	q13.42	NCBI
HuRef	19	51,300,252 - 51,308,259 (-)	NCBI		HuRef
CHM1_1	19	54,970,045 - 54,978,294 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	57,558,310 - 57,566,553 (-)	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

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1-naphthyl isothiocyanate (ISO)

17alpha-ethynylestradiol (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

2,4,6-trinitrotoluene (ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

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

4,4'-sulfonyldiphenol (ISO)

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

5-aza-2'-deoxycytidine (EXP)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

aflatoxin B1 (ISO)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

cisplatin (EXP)

cobalt dichloride (ISO)

copper atom (EXP)

copper(0) (EXP)

cyclosporin A (ISO)

cytarabine (EXP)

dibutyl phthalate (ISO)

diclofenac (ISO)

disulfiram (EXP)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

ethanol (ISO)

fonofos (EXP)

fulvestrant (EXP)

furan (ISO)

gentamycin (ISO)

inulin (ISO)

lead diacetate (ISO)

lipopolysaccharide (EXP)

methoxychlor (ISO)

panobinostat (EXP)

paracetamol (ISO)

parathion (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

phenylmercury acetate (EXP)

pirinixic acid (ISO)

resveratrol (EXP)

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

SB 431542 (EXP)

sodium arsenite (ISO)

terbufos (EXP)

testosterone (ISO)

tetrachloromethane (ISO)

thalidomide (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichostatin A (EXP)

triclosan (EXP)

valproic acid (EXP,ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

JNK cascade (IEA,ISO)

positive regulation of actin filament polymerization (IBA,IDA,IEA)

positive regulation of pseudopodium assembly (IBA,IDA,IEA)

regulation of cell shape (IBA,IDA,IEA)

Rho protein signal transduction (IBA,IEA,ISO)

Cellular Component

cytoplasm (IBA,IDA,IEA)

cytoskeleton (IBA,IEA)

cytosol (TAS)

endomembrane system (IEA)

membrane (IDA,IEA)

plasma membrane (IBA,IEA)

Molecular Function

protein binding (ISO)

small GTPase binding (IBA,IEA,IPI)

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:10490598	PMID:11035016	PMID:11584266	PMID:12477932	PMID:15489334	PMID:16344560	PMID:21873635	PMID:24104479	PMID:27913681	PMID:31527615	PMID:32798219

Genomics

Comparative Map Data

CDC42EP5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	54,465,026 - 54,473,296 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	54,465,026 - 54,473,296 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	54,976,210 - 54,984,443 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	59,668,022 - 59,676,234 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	59,668,021 - 59,676,234	NCBI
Celera	19	52,016,789 - 52,024,999 (-)	NCBI		Celera
Cytogenetic Map	19	q13.42	NCBI
HuRef	19	51,300,252 - 51,308,259 (-)	NCBI		HuRef
CHM1_1	19	54,970,045 - 54,978,294 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	57,558,310 - 57,566,553 (-)	NCBI		T2T-CHM13v2.0

Cdc42ep5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	4,154,259 - 4,167,830 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	4,154,259 - 4,167,859 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	4,151,260 - 4,164,831 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	4,151,260 - 4,164,860 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	4,102,862 - 4,116,304 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	3,754,347 - 3,767,789 (-)	NCBI		MGSCv36	mm8
Celera	7	3,902,050 - 3,915,471 (-)	NCBI		Celera
Cytogenetic Map	7	A1	NCBI
cM Map	7	2.4	NCBI

Cdc42ep5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	79,108,036 - 79,110,550 (+)	NCBI		GRCr8
mRatBN7.2	1	70,035,921 - 70,038,990 (+)	NCBI	mRatBN7.2	mRatBN7.2
UTH_Rnor_SHR_Utx	1	75,426,169 - 75,426,693 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	83,990,486 - 83,991,010 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	77,134,072 - 77,134,596 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	73,717,207 - 73,719,600 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	73,719,005 - 73,719,529 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	74,827,844 - 74,830,485 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	69,449,412 - 69,449,936 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	69,526,388 - 69,528,079 (+)	NCBI
Celera	1	67,083,539 - 67,084,063 (-)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

CDC42EP5
(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	20	60,486,593 - 60,494,360 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	62,410,587 - 62,418,178 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	51,411,848 - 51,419,686 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	60,253,939 - 60,260,937 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

CDC42EP5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	102,838,163 - 102,842,586 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	102,842,052 - 102,842,513 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	102,900,016 - 102,904,430 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	103,483,863 - 103,488,290 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	103,487,755 - 103,488,216 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	103,125,934 - 103,130,359 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	102,881,597 - 102,886,020 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	103,595,596 - 103,600,013 (+)	NCBI		UU_Cfam_GSD_1.0

Cdc42ep5
(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_024409349	2,378,176 - 2,383,009 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936886	176,214 - 181,007 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CDC42EP5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	58,852,751 - 58,857,621 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	58,852,426 - 58,857,622 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	53,404,024 - 53,409,452 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CDC42EP5
(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	6	47,168,245 - 47,174,666 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	47,168,320 - 47,168,763 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	27,395,587 - 27,402,689 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cdc42ep5
(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_004624832	2,272,070 - 2,276,460 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CDC42EP5
17 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	copy number gain	See cases [RCV000050883]	Chr19:50191219..58535818 [GRCh38] Chr19:50694476..59047185 [GRCh37] Chr19:55386288..63738997 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	copy number gain	See cases [RCV000052925]	Chr19:49907832..58557889 [GRCh38] Chr19:50411089..59069256 [GRCh37] Chr19:55102901..63761068 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	copy number gain	See cases [RCV000052926]	Chr19:51141518..58539965 [GRCh38] Chr19:51644775..59051332 [GRCh37] Chr19:56336587..63743144 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	copy number gain	See cases [RCV000052914]	Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	copy number gain	See cases [RCV000052915]	Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	copy number gain	See cases [RCV000134174]	Chr19:52612432..58581203 [GRCh38] Chr19:53115685..59092570 [GRCh37] Chr19:57807497..63784382 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	copy number gain	See cases [RCV000134139]	Chr19:52955056..58581203 [GRCh38] Chr19:53458309..59092570 [GRCh37] Chr19:58150121..63784382 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	copy number gain	See cases [RCV000135843]	Chr19:50152520..58581203 [GRCh38] Chr19:50655777..59092570 [GRCh37] Chr19:55347589..63784382 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	copy number gain	See cases [RCV000142008]	Chr19:52143873..58445521 [GRCh38] Chr19:52647126..58956888 [GRCh37] Chr19:57338938..63648700 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207190]	Chr19:54710237..55648526 [GRCh37] Chr19:19q13.42	uncertain significance
chr19:54754752-55624113 complex variant	complex	Breast ductal adenocarcinoma [RCV000207291]	Chr19:54754752..55624113 [GRCh37] Chr19:19q13.42	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	copy number gain	See cases [RCV000445925]	Chr19:50489390..59095359 [GRCh37] Chr19:19q13.33-13.43	pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3	copy number gain	See cases [RCV000448186]	Chr19:54344821..58956888 [GRCh37] Chr19:19q13.42-13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	copy number gain	not provided [RCV000684091]	Chr19:53867570..55833460 [GRCh37] Chr19:19q13.42	uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	copy number gain	not provided [RCV000684095]	Chr19:54196216..58759679 [GRCh37] Chr19:19q13.42-13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3	copy number gain	not provided [RCV000740208]	Chr19:50740074..59097160 [GRCh37] Chr19:19q13.33-13.43	pathogenic
GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	copy number gain	not provided [RCV001007059]	Chr19:54701333..55536206 [GRCh37] Chr19:19q13.42	uncertain significance
GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3	copy number gain	not provided [RCV001007058]	Chr19:54474844..55181741 [GRCh37] Chr19:19q13.42	uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	copy number gain	not provided [RCV001259948]	Chr19:54334195..56434037 [GRCh37] Chr19:19q13.42-13.43	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	copy number gain	not provided [RCV001259944]	Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43	pathogenic
NC_000019.9:g.(?_54297303)_(55678016_?)dup	duplication	not provided [RCV001981426]	Chr19:54297303..55678016 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.434T>G (p.Val145Gly)	single nucleotide variant	Inborn genetic diseases [RCV003302203]	Chr19:54465114 [GRCh38] Chr19:54976298 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.442C>G (p.Leu148Val)	single nucleotide variant	Inborn genetic diseases [RCV002728795]	Chr19:54465106 [GRCh38] Chr19:54976290 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.439G>A (p.Gly147Ser)	single nucleotide variant	Inborn genetic diseases [RCV002818521]	Chr19:54465109 [GRCh38] Chr19:54976293 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.71C>G (p.Ser24Cys)	single nucleotide variant	Inborn genetic diseases [RCV002753350]	Chr19:54465477 [GRCh38] Chr19:54976661 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.277C>G (p.Leu93Val)	single nucleotide variant	Inborn genetic diseases [RCV002689532]	Chr19:54465271 [GRCh38] Chr19:54976455 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.370C>T (p.Arg124Cys)	single nucleotide variant	Inborn genetic diseases [RCV002946252]	Chr19:54465178 [GRCh38] Chr19:54976362 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.215C>T (p.Pro72Leu)	single nucleotide variant	Inborn genetic diseases [RCV002766948]	Chr19:54465333 [GRCh38] Chr19:54976517 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.386C>G (p.Pro129Arg)	single nucleotide variant	Inborn genetic diseases [RCV002915473]	Chr19:54465162 [GRCh38] Chr19:54976346 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.362C>T (p.Ala121Val)	single nucleotide variant	Inborn genetic diseases [RCV002763845]	Chr19:54465186 [GRCh38] Chr19:54976370 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.229C>T (p.Pro77Ser)	single nucleotide variant	Inborn genetic diseases [RCV002809395]	Chr19:54465319 [GRCh38] Chr19:54976503 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.260C>A (p.Pro87Gln)	single nucleotide variant	Inborn genetic diseases [RCV002835437]	Chr19:54465288 [GRCh38] Chr19:54976472 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.230C>T (p.Pro77Leu)	single nucleotide variant	Inborn genetic diseases [RCV003188888]	Chr19:54465318 [GRCh38] Chr19:54976502 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.391C>A (p.Gln131Lys)	single nucleotide variant	Inborn genetic diseases [RCV003183890]	Chr19:54465157 [GRCh38] Chr19:54976341 [GRCh37] Chr19:19q13.42	likely benign
NM_145057.4(CDC42EP5):c.188C>A (p.Pro63His)	single nucleotide variant	Inborn genetic diseases [RCV003307052]	Chr19:54465360 [GRCh38] Chr19:54976544 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.199G>A (p.Ala67Thr)	single nucleotide variant	Inborn genetic diseases [RCV003345764]	Chr19:54465349 [GRCh38] Chr19:54976533 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.346G>A (p.Ala116Thr)	single nucleotide variant	Inborn genetic diseases [RCV003369922]	Chr19:54465202 [GRCh38] Chr19:54976386 [GRCh37] Chr19:19q13.42	uncertain significance
NM_145057.4(CDC42EP5):c.409A>C (p.Asn137His)	single nucleotide variant	Inborn genetic diseases [RCV003367320]	Chr19:54465139 [GRCh38] Chr19:54976323 [GRCh37] Chr19:19q13.42	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	copy number gain	not provided [RCV003485200]	Chr19:49625130..57647352 [GRCh37] Chr19:19q13.33-13.43	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	711
Count of miRNA genes:	485
Interacting mature miRNAs:	537
Transcripts:	ENST00000301200, ENST00000472703
Prediction methods:	Microtar, 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

ECD08908

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,982,369 - 54,983,011	UniSTS	GRCh37
Build 36	19	59,674,181 - 59,674,823	RGD	NCBI36
Celera	19	52,022,946 - 52,023,588	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,306,431 - 51,307,073	UniSTS

ECD15019

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,984,641 - 54,985,121	UniSTS	GRCh37
Build 36	19	59,676,453 - 59,676,933	RGD	NCBI36
Celera	19	52,025,218 - 52,025,698	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,308,478 - 51,308,958	UniSTS

ECD18301

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,984,215 - 54,984,580	UniSTS	GRCh37
Build 36	19	59,676,027 - 59,676,392	RGD	NCBI36
Celera	19	52,024,792 - 52,025,157	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,308,052 - 51,308,417	UniSTS

ECD24421

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,979,405 - 54,979,535	UniSTS	GRCh37
Build 36	19	59,671,217 - 59,671,347	RGD	NCBI36
Celera	19	52,019,982 - 52,020,112	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,303,471 - 51,303,601	UniSTS

REN92963

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,975,887 - 54,976,156	UniSTS	GRCh37
Build 36	19	59,667,699 - 59,667,968	RGD	NCBI36
Celera	19	52,016,466 - 52,016,735	RGD
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
HuRef	19	51,299,929 - 51,300,198	UniSTS

REN92964

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,976,064 - 54,976,302	UniSTS	GRCh37
Build 36	19	59,667,876 - 59,668,114	RGD	NCBI36
Celera	19	52,016,643 - 52,016,881	RGD
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
HuRef	19	51,300,106 - 51,300,344	UniSTS

REN92965

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,976,216 - 54,976,467	UniSTS	GRCh37
Build 36	19	59,668,028 - 59,668,279	RGD	NCBI36
Celera	19	52,016,795 - 52,017,046	RGD
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
HuRef	19	51,300,258 - 51,300,509	UniSTS

REN92966

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,976,581 - 54,976,805	UniSTS	GRCh37
Build 36	19	59,668,393 - 59,668,617	RGD	NCBI36
Celera	19	52,017,160 - 52,017,384	RGD
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
HuRef	19	51,300,623 - 51,300,847	UniSTS

REN92967

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,976,919 - 54,977,147	UniSTS	GRCh37
Build 36	19	59,668,731 - 59,668,959	RGD	NCBI36
Celera	19	52,017,498 - 52,017,726	RGD
Cytogenetic Map	19	q13.42	UniSTS

REN92968

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,977,122 - 54,977,346	UniSTS	GRCh37
Build 36	19	59,668,934 - 59,669,158	RGD	NCBI36
Celera	19	52,017,701 - 52,017,925	RGD
Cytogenetic Map	19	q13.42	UniSTS

REN92969

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,977,319 - 54,977,589	UniSTS	GRCh37
Build 36	19	59,669,131 - 59,669,401	RGD	NCBI36
Celera	19	52,017,898 - 52,018,168	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,301,384 - 51,301,654	UniSTS

REN92970

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,977,560 - 54,977,795	UniSTS	GRCh37
Build 36	19	59,669,372 - 59,669,607	RGD	NCBI36
Celera	19	52,018,139 - 52,018,374	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,301,625 - 51,301,860	UniSTS

REN92971

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,977,772 - 54,978,011	UniSTS	GRCh37
Build 36	19	59,669,584 - 59,669,823	RGD	NCBI36
Celera	19	52,018,351 - 52,018,590	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,301,837 - 51,302,076	UniSTS

REN92972

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,977,834 - 54,978,068	UniSTS	GRCh37
Build 36	19	59,669,646 - 59,669,880	RGD	NCBI36
Celera	19	52,018,413 - 52,018,647	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,301,899 - 51,302,133	UniSTS

REN92973

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,978,044 - 54,978,303	UniSTS	GRCh37
Build 36	19	59,669,856 - 59,670,115	RGD	NCBI36
Celera	19	52,018,623 - 52,018,882	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,302,109 - 51,302,368	UniSTS

REN92974

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,978,099 - 54,978,365	UniSTS	GRCh37
Build 36	19	59,669,911 - 59,670,177	RGD	NCBI36
Celera	19	52,018,678 - 52,018,944	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,302,164 - 51,302,430	UniSTS

REN92975

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,978,705 - 54,978,950	UniSTS	GRCh37
Build 36	19	59,670,517 - 59,670,762	RGD	NCBI36
Celera	19	52,019,282 - 52,019,527	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,302,771 - 51,303,016	UniSTS

REN92976

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,979,006 - 54,979,238	UniSTS	GRCh37
Build 36	19	59,670,818 - 59,671,050	RGD	NCBI36
Celera	19	52,019,583 - 52,019,815	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,303,072 - 51,303,304	UniSTS

REN92977

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,979,209 - 54,979,460	UniSTS	GRCh37
Build 36	19	59,671,021 - 59,671,272	RGD	NCBI36
Celera	19	52,019,786 - 52,020,037	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,303,275 - 51,303,526	UniSTS

REN92978

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,979,447 - 54,979,694	UniSTS	GRCh37
Build 36	19	59,671,259 - 59,671,506	RGD	NCBI36
Celera	19	52,020,024 - 52,020,271	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,303,513 - 51,303,760	UniSTS

REN92979

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,979,515 - 54,979,760	UniSTS	GRCh37
Build 36	19	59,671,327 - 59,671,572	RGD	NCBI36
Celera	19	52,020,092 - 52,020,337	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,303,581 - 51,303,826	UniSTS

REN92980

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,980,510 - 54,980,750	UniSTS	GRCh37
Build 36	19	59,672,322 - 59,672,562	RGD	NCBI36
Celera	19	52,021,087 - 52,021,327	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,304,572 - 51,304,812	UniSTS

REN92981

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,980,734 - 54,980,993	UniSTS	GRCh37
Build 36	19	59,672,546 - 59,672,805	RGD	NCBI36
Celera	19	52,021,311 - 52,021,570	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,304,796 - 51,305,055	UniSTS

REN92982

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,980,970 - 54,981,229	UniSTS	GRCh37
Build 36	19	59,672,782 - 59,673,041	RGD	NCBI36
Celera	19	52,021,547 - 52,021,806	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,305,032 - 51,305,291	UniSTS

REN92983

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,981,206 - 54,981,475	UniSTS	GRCh37
Build 36	19	59,673,018 - 59,673,287	RGD	NCBI36
Celera	19	52,021,783 - 52,022,052	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,305,268 - 51,305,537	UniSTS

REN92984

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,981,578 - 54,981,834	UniSTS	GRCh37
Build 36	19	59,673,390 - 59,673,646	RGD	NCBI36
Celera	19	52,022,155 - 52,022,411	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,305,640 - 51,305,896	UniSTS

REN92985

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,981,822 - 54,982,052	UniSTS	GRCh37
Build 36	19	59,673,634 - 59,673,864	RGD	NCBI36
Celera	19	52,022,399 - 52,022,629	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,305,884 - 51,306,114	UniSTS

REN92986

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,982,049 - 54,982,299	UniSTS	GRCh37
Build 36	19	59,673,861 - 59,674,111	RGD	NCBI36
Celera	19	52,022,626 - 52,022,876	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,306,111 - 51,306,361	UniSTS

REN92987

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,982,270 - 54,982,535	UniSTS	GRCh37
Build 36	19	59,674,082 - 59,674,347	RGD	NCBI36
Celera	19	52,022,847 - 52,023,112	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,306,332 - 51,306,597	UniSTS

REN92988

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,982,359 - 54,982,607	UniSTS	GRCh37
Build 36	19	59,674,171 - 59,674,419	RGD	NCBI36
Celera	19	52,022,936 - 52,023,184	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,306,421 - 51,306,669	UniSTS

REN92989

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,982,547 - 54,982,818	UniSTS	GRCh37
Build 36	19	59,674,359 - 59,674,630	RGD	NCBI36
Celera	19	52,023,124 - 52,023,395	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,306,609 - 51,306,880	UniSTS

REN92990

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,982,797 - 54,983,034	UniSTS	GRCh37
Build 36	19	59,674,609 - 59,674,846	RGD	NCBI36
Celera	19	52,023,374 - 52,023,611	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,306,859 - 51,307,096	UniSTS

REN92991

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,984,220 - 54,984,444	UniSTS	GRCh37
Build 36	19	59,676,032 - 59,676,256	RGD	NCBI36
Celera	19	52,024,797 - 52,025,021	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,308,057 - 51,308,281	UniSTS

REN92992

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,984,427 - 54,984,679	UniSTS	GRCh37
Build 36	19	59,676,239 - 59,676,491	RGD	NCBI36
Celera	19	52,025,004 - 52,025,256	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,308,264 - 51,308,516	UniSTS

REN92993

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,984,658 - 54,984,906	UniSTS	GRCh37
Build 36	19	59,676,470 - 59,676,718	RGD	NCBI36
Celera	19	52,025,235 - 52,025,483	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,308,495 - 51,308,743	UniSTS

REN92994

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,984,886 - 54,985,147	UniSTS	GRCh37
Build 36	19	59,676,698 - 59,676,959	RGD	NCBI36
Celera	19	52,025,463 - 52,025,724	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,308,723 - 51,308,984	UniSTS

REN92995

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,985,145 - 54,985,407	UniSTS	GRCh37
Build 36	19	59,676,957 - 59,677,219	RGD	NCBI36
Celera	19	52,025,722 - 52,025,983	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,308,982 - 51,309,244	UniSTS

REN92996

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,985,289 - 54,985,513	UniSTS	GRCh37
Build 36	19	59,677,101 - 59,677,325	RGD	NCBI36
Celera	19	52,025,865 - 52,026,089	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,309,126 - 51,309,350	UniSTS

REN92997

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,985,486 - 54,985,755	UniSTS	GRCh37
Build 36	19	59,677,298 - 59,677,567	RGD	NCBI36
Celera	19	52,026,062 - 52,026,331	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,309,323 - 51,309,592	UniSTS

REN92998

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,985,734 - 54,985,971	UniSTS	GRCh37
Build 36	19	59,677,546 - 59,677,783	RGD	NCBI36
Celera	19	52,026,310 - 52,026,547	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,309,571 - 51,309,808	UniSTS

REN92999

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,985,954 - 54,986,204	UniSTS	GRCh37
Build 36	19	59,677,766 - 59,678,016	RGD	NCBI36
Celera	19	52,026,530 - 52,026,780	RGD
Cytogenetic Map	19	q13.42	UniSTS
HuRef	19	51,309,791 - 51,310,041	UniSTS

stSG606088

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,978,730 - 54,979,051	UniSTS	GRCh37
Build 36	19	59,670,542 - 59,670,863	RGD	NCBI36
Celera	19	52,019,307 - 52,019,628	RGD
HuRef	19	51,302,796 - 51,303,117	UniSTS

stSG606089

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,979,060 - 54,980,096	UniSTS	GRCh37
Build 36	19	59,670,872 - 59,671,908	RGD	NCBI36
Celera	19	52,019,637 - 52,020,673	RGD
HuRef	19	51,303,126 - 51,304,182	UniSTS
HuRef	19	51,303,126 - 51,304,162	UniSTS

stSG606090

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,980,105 - 54,981,150	UniSTS	GRCh37
GRCh37	19	54,980,093 - 54,981,150	UniSTS	GRCh37
GRCh37	19	54,980,089 - 54,981,150	UniSTS	GRCh37
Build 36	19	59,671,901 - 59,672,962	RGD	NCBI36
Celera	19	52,020,666 - 52,021,727	RGD
Celera	19	52,020,670 - 52,021,727	UniSTS
Celera	19	52,020,682 - 52,021,727	UniSTS
HuRef	19	51,304,155 - 51,305,212	UniSTS
HuRef	19	51,304,167 - 51,305,212	UniSTS
HuRef	19	51,304,163 - 51,305,212	UniSTS

stSG606091

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	54,981,131 - 54,982,600	UniSTS	GRCh37
Build 36	19	59,672,943 - 59,674,412	RGD	NCBI36
Celera	19	52,021,708 - 52,023,177	RGD
HuRef	19	51,305,193 - 51,306,662	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

2169

1652

846

184

435

3080

913

753

191

1253

1325

160

1194

1807

Low

262

702

860

427

600

422

1266

1267

2765

220

188

198

976

Below cutoff

523

627

177

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_145057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC008746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC245884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI379873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC024327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065910	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CU207370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CU467002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA867588	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000301200 ⟹ ENSP00000301200

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	54,465,026 - 54,473,296 (-)	Ensembl

RefSeq Acc Id:

ENST00000472703

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	54,471,506 - 54,473,171 (-)	Ensembl

RefSeq Acc Id:

NM_145057 ⟹ NP_659494

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	54,465,026 - 54,473,296 (-)	NCBI
GRCh37	19	54,976,210 - 54,984,422 (-)	RGD
Build 36	19	59,668,022 - 59,676,234 (-)	NCBI Archive
Celera	19	52,016,789 - 52,024,999 (-)	RGD
HuRef	19	51,300,251 - 51,308,274 (-)	NCBI
CHM1_1	19	54,970,044 - 54,978,309 (-)	NCBI
T2T-CHM13v2.0	19	57,558,310 - 57,566,553 (-)	NCBI

Sequence:

show sequence

ACACTTAGTCCTGGCCTCCTCCCGCCCCCACACTCCGCCCAGAGGGGCCTCAGCTTTTCCACCA
CTGCTTTCTAGTCCTTTAACTCCTAGAGGCAAACTTTTGGGGGATAAGAAAGCCTGGGAGGGGC
CTGTGCCAAAACCCTCTCTGCCTGGGGACTGGGCGGTGATTCCGCTTCTGCCTGGGCTCCTGCC
ATGGCCCCCGAGAGGGGCTGACACTTTAGCTCCCGGTGCAGGTGAGAACCCGCCCGGAGGAAGA
AGGAAGGCGCGGGCCGGGGATTAGGAGACGGAGGCGGACTCGGAGCCAGGGAACCAGGGGTCCG
GGCTAGAGCTGGAGTCGTGAGCGCGCGCCCGCCCCGCTCTGGGAGGACCGCGAGATGCCCGTGC
TGAAGCAGCTGGGCCCCGCGCAGCCCAAGAAGCGGCCTGATCGCGGCGCCCTGTCCATCTCCGC
GCCGCTCGGCGACTTCCGGCACACGCTGCACGTGGGGCGCGGCGGCGACGCCTTCGGGGACACC
TCGTTCCTGAGCCGCCACGGCGGCGGGCCGCCCCCCGAGCCCCGGGCGCCCCCCGCGGGGGCCC
CGCGCTCCCCGCCGCCGCCCGCCGTCCCGCAGTCCGCAGCGCCCTCGCCTGCCGACCCGCTGCT
GTCCTTCCACCTGGATCTGGGGCCCTCCATGCTGGACGCGGTGCTGGGCGTCATGGACGCGGCG
CGCCCGGAGGCGGCTGCCGCCAAGCCCGACGCGGAACCCCGCCCCGGGACGCAGCCCCCCCAGG
CCCGCTGCCGCCCCAACGCGGACCTCGAGCTGAACGACGTCATCGGCCTCTAGGTTCCCTCATT
CCCCGCGCCCTTCCCGCCCGGCACCCCACTTCTGTATACATAAACGGCCAAGGTGTGTGCCCGG

hide sequence

Protein Sequences


Protein RefSeqs	NP_659494	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH24327	(Get FASTA)	NCBI Sequence Viewer
	AAH65910	(Get FASTA)	NCBI Sequence Viewer
	EAW72252	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000301200
	ENSP00000301200.2
	ENSP00000479726.1
	ENSP00000483465.1
	ENSP00000484158.1
	ENSP00000484979.1
	ENSP00000484985.1
GenBank Protein	Q6NZY7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_659494 ⟸ NM_145057
- UniProtKB:	B0VJZ2 (UniProtKB/Swiss-Prot), Q8TB51 (UniProtKB/Swiss-Prot), Q6NZY7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPVLKQLGPAQPKKRPDRGALSISAPLGDFRHTLHVGRGGDAFGDTSFLSRHGGGPPPEPRAPP AGAPRSPPPPAVPQSAAPSPADPLLSFHLDLGPSMLDAVLGVMDAARPEAAAAKPDAEPRPGTQ PPQARCRPNADLELNDVIGL hide sequence

RefSeq Acc Id:

ENSP00000301200 ⟸ ENST00000301200

Protein Domains

CRIB

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6NZY7-F1-model_v2	AlphaFold	Q6NZY7	1-148	view protein structure

Promoters

RGD ID:

13205615

Promoter ID:

EPDNEW_H26388

Type:

initiation region

Name:

CDC42EP5_2

Description:

CDC42 effector protein 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26389

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	54,471,693 - 54,471,753	EPDNEW

RGD ID:

13205617

Promoter ID:

EPDNEW_H26389

Type:

initiation region

Name:

CDC42EP5_1

Description:

CDC42 effector protein 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26388

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	54,473,265 - 54,473,325	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17408	AgrOrtholog
COSMIC	CDC42EP5	COSMIC
Ensembl Genes	ENSG00000167617	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000273622	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000273633	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000278444	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000301200	ENTREZGENE
	ENST00000301200.3	UniProtKB/Swiss-Prot
	ENST00000610368.1	UniProtKB/TrEMBL
	ENST00000611094.1	UniProtKB/Swiss-Prot
	ENST00000617756.1	UniProtKB/Swiss-Prot
	ENST00000619217.1	UniProtKB/Swiss-Prot
	ENST00000622855.1	UniProtKB/TrEMBL
GTEx	ENSG00000167617	GTEx
	ENSG00000273622	GTEx
	ENSG00000273633	GTEx
	ENSG00000278444	GTEx
HGNC ID	HGNC:17408	ENTREZGENE
Human Proteome Map	CDC42EP5	Human Proteome Map
InterPro	Cdc42_effect	UniProtKB/Swiss-Prot
	CRIB_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:148170	UniProtKB/Swiss-Prot
NCBI Gene	148170	ENTREZGENE
OMIM	609171	OMIM
PANTHER	CDC42 EFFECTOR PROTEIN 5	UniProtKB/Swiss-Prot
	CDC42 EFFECTOR PROTEIN BORG	UniProtKB/Swiss-Prot
Pfam	BORG_CEP	UniProtKB/Swiss-Prot
	PBD	UniProtKB/Swiss-Prot
PharmGKB	PA134989100	PharmGKB
PROSITE	CRIB	UniProtKB/Swiss-Prot
SMART	PBD	UniProtKB/Swiss-Prot
UniProt	A0A0G2JPE9_HUMAN	UniProtKB/TrEMBL
	B0VJZ2	ENTREZGENE
	BORG3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q8TB51	ENTREZGENE
UniProt Secondary	B0VJZ2	UniProtKB/Swiss-Prot
	Q8TB51	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-12	CDC42EP5	CDC42 effector protein 5	CDC42EP5	CDC42 effector protein (Rho GTPase binding) 5	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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Imported Disease Annotations - ClinVar