PEBP4 (phosphatidylethanolamine binding protein 4)

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Gene: PEBP4 (phosphatidylethanolamine binding protein 4) Homo sapiens

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Symbol:

PEBP4

Name:

phosphatidylethanolamine binding protein 4

RGD ID:

1606949

HGNC Page

HGNC:28319

Description:

Located in extracellular exosome.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CORK-1; CORK1; cousin-of-RKIP 1 protein; epididymis secretory protein Li 300; GWTM1933; HEL-S-300; hPEBP4; MGC22776; PEBP-4; phosphatidylethanolamine-binding protein 4; PRO4408; protein cousin-of-RKIP 1

RGD Orthologs

Alliance Orthologs

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	8	22,713,251 - 22,941,077 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	22,713,251 - 23,000,000 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	22,570,764 - 22,798,590 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	22,626,710 - 22,841,366 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	21,533,122 - 21,747,804 (-)	NCBI		Celera
Cytogenetic Map	8	p21.3	NCBI
HuRef	8	21,113,907 - 21,329,903 (-)	NCBI		HuRef
CHM1_1	8	22,773,101 - 22,987,671 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	22,987,819 - 23,216,048 (-)	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

Conotruncal Cardiac Defects (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2-palmitoylglycerol (EXP)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

amitrole (ISO)

atrazine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium dichloride (EXP)

calcitriol (EXP)

CGP 52608 (EXP)

copper atom (ISO)

copper(0) (ISO)

doxorubicin (EXP)

fulvestrant (EXP)

hydralazine (EXP)

methimazole (ISO)

paracetamol (EXP)

sodium arsenite (EXP)

sodium fluoride (ISO)

sulfadimethoxine (ISO)

sunitinib (EXP)

Tesaglitazar (ISO)

testosterone (EXP)

toluene (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

extracellular exosome (HDA)

extracellular region (IEA)

membrane (IEA)

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10737800	PMID:12477932	PMID:12975309	PMID:15340161	PMID:15489334	PMID:16865237	PMID:18519826	PMID:19197339	PMID:19240061	PMID:20379614	PMID:21873635	PMID:21887552
PMID:22076923	PMID:22125029	PMID:22589738	PMID:22801881	PMID:22983920	PMID:23451095	PMID:23533145	PMID:23818363	PMID:24159190	PMID:24276246	PMID:24839885	PMID:25038915
PMID:25721211	PMID:26311050	PMID:26725095	PMID:27033522	PMID:27261570	PMID:28193908	PMID:29955039	PMID:30021884	PMID:30255656	PMID:30367510	PMID:31402200	PMID:33752499
PMID:35158167

Genomics

Comparative Map Data

PEBP4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	22,713,251 - 22,941,077 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	22,713,251 - 23,000,000 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	22,570,764 - 22,798,590 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	22,626,710 - 22,841,366 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	8	21,533,122 - 21,747,804 (-)	NCBI		Celera
Cytogenetic Map	8	p21.3	NCBI
HuRef	8	21,113,907 - 21,329,903 (-)	NCBI		HuRef
CHM1_1	8	22,773,101 - 22,987,671 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	22,987,819 - 23,216,048 (-)	NCBI		T2T-CHM13v2.0

Pebp4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	70,077,856 - 70,297,367 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	70,077,869 - 70,297,367 (+)	Ensembl		GRCm39 Ensembl
GRCm38	14	69,840,407 - 70,059,918 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	69,840,420 - 70,059,918 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	70,240,227 - 70,459,693 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	68,575,487 - 68,794,959 (+)	NCBI		MGSCv36	mm8
Celera	14	67,378,541 - 67,600,399 (+)	NCBI		Celera
Cytogenetic Map	14	D2	NCBI
cM Map	14	36.1	NCBI

Pebp4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	51,328,127 - 51,543,920 (+)	NCBI		GRCr8
mRatBN7.2	15	44,920,946 - 45,134,188 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	44,921,886 - 45,134,191 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	15	51,644,948 - 51,740,626 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0	15	51,528,587 - 51,615,204 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	51,528,514 - 51,740,281 (+)	NCBI	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	55,252,902 - 55,466,149 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	50,225,405 - 50,460,627 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	15	44,602,584 - 44,814,601 (+)	NCBI		Celera
Cytogenetic Map	15	p11	NCBI

Pebp4
(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_004955403	46,125,150 - 46,333,200 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955403	46,126,263 - 46,317,830 (-)	NCBI	ChiLan1.0	ChiLan1.0

PEBP4
(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	7	41,218,356 - 41,505,203 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	16,945,744 - 17,232,411 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	21,963,297 - 22,250,024 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	18,902,616 - 19,117,229 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	18,902,734 - 19,117,025 (-)	Ensembl	panpan1.1		panPan2

PEBP4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	25	34,329,160 - 34,574,086 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	25	34,317,421 - 34,574,066 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	25	34,917,144 - 35,164,286 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	25	34,536,708 - 34,784,007 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	25	34,535,120 - 34,784,085 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	25	34,483,438 - 34,730,274 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	25	34,337,758 - 34,584,606 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	25	34,492,754 - 34,740,068 (+)	NCBI		UU_Cfam_GSD_1.0

Pebp4
(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_024404943	11,922,656 - 12,137,275 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936555	6,433,237 - 6,620,072 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936555	6,433,243 - 6,648,014 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PEBP4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	6,966,862 - 7,173,347 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	6,966,861 - 7,173,255 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	7,446,928 - 7,543,617 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3
Sscrofa10.2	14	7,691,260 - 7,698,221 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PEBP4
(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	8	20,792,718 - 21,066,746 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	20,792,707 - 21,004,134 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666052	21,223,048 - 21,434,545 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pebp4
(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_004624758	18,203,239 - 18,394,891 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PEBP4
29 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000050294]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000050297]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.3-21.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000050912]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	copy number gain	See cases [RCV000051145]	Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	copy number gain	See cases [RCV000051110]	Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	copy number gain	See cases [RCV000053629]	Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	copy number gain	See cases [RCV000053630]	Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|See cases [RCV000053631]	Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	copy number gain	See cases [RCV000053632]	Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	copy number gain	See cases [RCV000053633]	Chr8:12750796..29445409 [GRCh38] Chr8:12608305..29302926 [GRCh37] Chr8:12652676..29358845 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	copy number gain	See cases [RCV000053635]	Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21	pathogenic
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	copy number gain	See cases [RCV000053636]	Chr8:21654619..23001935 [GRCh38] Chr8:21512131..22859448 [GRCh37] Chr8:21556411..22915393 [NCBI36] Chr8:8p21.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	copy number gain	See cases [RCV000053599]	Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]\|See cases [RCV000054236]	Chr8:21482945..22853239 [GRCh38] Chr8:21340456..22710752 [GRCh37] Chr8:21384736..22766697 [NCBI36] Chr8:8p21.3	pathogenic
NM_144962.2(PEBP4):c.393G>A (p.Gln131=)	single nucleotide variant	Malignant melanoma [RCV000061777]	Chr8:22727185 [GRCh38] Chr8:22584698 [GRCh37] Chr8:22640643 [NCBI36] Chr8:8p21.3	not provided
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	copy number gain	See cases [RCV000135786]	Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	copy number gain	See cases [RCV000135566]	Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	copy number gain	See cases [RCV000136516]	Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	copy number gain	See cases [RCV000135967]	Chr8:241530..23198398 [GRCh38] Chr8:191530..23055911 [GRCh37] Chr8:181530..23111856 [NCBI36] Chr8:8p23.3-21.3	pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	copy number gain	See cases [RCV000136026]	Chr8:241605..24656971 [GRCh38] Chr8:191605..24514484 [GRCh37] Chr8:181605..24570374 [NCBI36] Chr8:8p23.3-21.2	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	copy number gain	See cases [RCV000136825]	Chr8:12725750..30180521 [GRCh38] Chr8:12583259..30038037 [GRCh37] Chr8:12627630..30157579 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	copy number gain	See cases [RCV000137249]	Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	copy number gain	See cases [RCV000138058]	Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	copy number gain	See cases [RCV000137807]	Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	copy number gain	See cases [RCV000138831]	Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	copy number gain	See cases [RCV000138244]	Chr8:12382844..28625564 [GRCh38] Chr8:12240353..28483081 [GRCh37] Chr8:12284724..28539000 [NCBI36] Chr8:8p23.1-21.1	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	copy number gain	See cases [RCV000139891]	Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	copy number gain	See cases [RCV000139770]	Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	copy number gain	See cases [RCV000139796]	Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	copy number gain	See cases [RCV000139549]	Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23	pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	copy number gain	See cases [RCV000141410]	Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	copy number loss	See cases [RCV000142516]	Chr8:12383584..29033946 [GRCh38] Chr8:12241093..28891463 [GRCh37] Chr8:12285464..28947382 [NCBI36] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	copy number loss	See cases [RCV000142747]	Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	copy number gain	See cases [RCV000143508]	Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000148237]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000148249]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	copy number loss	See cases [RCV000148252]	Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.2-21.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	copy number gain	See cases [RCV000203434]	Chr8:20478546..28986438 [GRCh37] Chr8:8p21.3-12	pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	copy number gain	See cases [RCV000511325]	Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	copy number gain	See cases [RCV000239945]	Chr8:12580132..26774307 [GRCh37] Chr8:8p23.1-21.2	pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	copy number gain	Autism [RCV000626542]	Chr8:12580104..25947329 [GRCh37] Chr8:8p23.1-21.2	pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3	copy number gain	See cases [RCV000449225]	Chr8:158048..30262760 [GRCh37] Chr8:8p23.3-12	pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	copy number loss	See cases [RCV000447428]	Chr8:13091530..24483615 [GRCh37] Chr8:8p22-21.2	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3	copy number gain	See cases [RCV000447909]	Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	copy number gain	See cases [RCV000447913]	Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	copy number loss	not provided [RCV000509389]	Chr8:16992973..32612724 [GRCh37] Chr8:8p22-12	not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	copy number gain	See cases [RCV000510571]	Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p21.3(chr8:22492051-23039856)x3	copy number gain	See cases [RCV000512002]	Chr8:22492051..23039856 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	copy number gain	See cases [RCV000511028]	Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	copy number gain	See cases [RCV000510899]	Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p21.3(chr8:22381361-23226751)x3	copy number gain	See cases [RCV000510870]	Chr8:22381361..23226751 [GRCh37] Chr8:8p21.3	likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_144962.3(PEBP4):c.115G>A (p.Asp39Asn)	single nucleotide variant	not specified [RCV004289334]	Chr8:22927600 [GRCh38] Chr8:22785113 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8p21.3(chr8:22539315-22932915)x3	copy number gain	not provided [RCV000682976]	Chr8:22539315..22932915 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	copy number gain	not provided [RCV000683041]	Chr8:8770948..27079636 [GRCh37] Chr8:8p23.1-21.2	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	copy number gain	not provided [RCV000683043]	Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12	pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	copy number gain	not provided [RCV000683042]	Chr8:1825200..24533193 [GRCh37] Chr8:8p23.3-21.2	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	copy number gain	not provided [RCV000762735]	Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12	likely pathogenic
Single allele	duplication	not provided [RCV000768452]	Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12	likely pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	copy number loss	not provided [RCV000849161]	Chr8:21662847..24199218 [GRCh37] Chr8:8p21.3-21.2	pathogenic
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	copy number gain	not provided [RCV000847279]	Chr8:20564910..22629124 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	copy number loss	not provided [RCV000847074]	Chr8:22442548..27369334 [GRCh37] Chr8:8p21.3-21.2	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_144962.3(PEBP4):c.26C>T (p.Thr9Ile)	single nucleotide variant	not specified [RCV004301609]	Chr8:22927689 [GRCh38] Chr8:22785202 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.307G>A (p.Ala103Thr)	single nucleotide variant	not specified [RCV004321406]	Chr8:22817687 [GRCh38] Chr8:22675200 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	copy number gain	not provided [RCV001260030]	Chr8:12528482..29886483 [GRCh37] Chr8:8p23.1-12	likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	copy number gain	Abnormal fetal cardiovascular morphology [RCV001291977]	Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1	pathogenic
NC_000008.10:g.(?_21900440)_(23564111_?)dup	duplication	Conotruncal heart malformations [RCV003107885]\|not provided [RCV001928022]	Chr8:21900440..23564111 [GRCh37] Chr8:8p21.3-21.2	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	copy number gain	not provided [RCV002279745]	Chr8:19779604..26531980 [GRCh37] Chr8:8p21.3-21.2	pathogenic
Single allele	complex	8p inverted duplication/deletion syndrome [RCV002280753]	Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21	pathogenic
Single allele	complex	See cases [RCV002292428]	Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	copy number loss	See cases [RCV002286343]	Chr8:158048..30187456 [GRCh37] Chr8:8p23.3-12	pathogenic
NM_144962.3(PEBP4):c.457T>C (p.Phe153Leu)	single nucleotide variant	not specified [RCV004239844]	Chr8:22724903 [GRCh38] Chr8:22582416 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.232A>G (p.Ile78Val)	single nucleotide variant	not specified [RCV004095761]	Chr8:22920210 [GRCh38] Chr8:22777723 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.244C>T (p.Pro82Ser)	single nucleotide variant	not specified [RCV004098792]	Chr8:22920198 [GRCh38] Chr8:22777711 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.412G>C (p.Ala138Pro)	single nucleotide variant	not specified [RCV004190772]	Chr8:22724948 [GRCh38] Chr8:22582461 [GRCh37] Chr8:8p21.3	likely benign
NM_144962.3(PEBP4):c.515G>A (p.Arg172Gln)	single nucleotide variant	not specified [RCV004243990]	Chr8:22724845 [GRCh38] Chr8:22582358 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.211A>T (p.Ile71Phe)	single nucleotide variant	not specified [RCV004115176]	Chr8:22920231 [GRCh38] Chr8:22777744 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.86C>A (p.Pro29Gln)	single nucleotide variant	not specified [RCV004210476]	Chr8:22927629 [GRCh38] Chr8:22785142 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.436G>A (p.Gly146Ser)	single nucleotide variant	not specified [RCV004126267]	Chr8:22724924 [GRCh38] Chr8:22582437 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.190T>C (p.Cys64Arg)	single nucleotide variant	not specified [RCV004146456]	Chr8:22920252 [GRCh38] Chr8:22777765 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.388G>C (p.Gly130Arg)	single nucleotide variant	not specified [RCV004173271]	Chr8:22727190 [GRCh38] Chr8:22584703 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.191G>C (p.Cys64Ser)	single nucleotide variant	not specified [RCV004151331]	Chr8:22920251 [GRCh38] Chr8:22777764 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	copy number loss	not provided [RCV003223292]	Chr8:21925038..26372195 [GRCh37] Chr8:8p21.3-21.2	likely pathogenic
NM_144962.3(PEBP4):c.400T>C (p.Ser134Pro)	single nucleotide variant	not specified [RCV004316514]	Chr8:22727178 [GRCh38] Chr8:22584691 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	copy number loss	Microcephaly [RCV003327707]	Chr8:12721809..30183737 [GRCh38] Chr8:8p23.1-12	pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	copy number loss	Neurodevelopmental disorder [RCV003327729]	Chr8:449893..23854904 [GRCh38] Chr8:8p23.3-21.2	pathogenic
NM_144962.3(PEBP4):c.70G>A (p.Glu24Lys)	single nucleotide variant	not specified [RCV004337713]	Chr8:22927645 [GRCh38] Chr8:22785158 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.529A>G (p.Met177Val)	single nucleotide variant	not specified [RCV004340814]	Chr8:22713525 [GRCh38] Chr8:22571038 [GRCh37] Chr8:8p21.3	uncertain significance
Single allele	duplication	not provided [RCV003448693]	Chr8:12530550..43483193 [GRCh37] Chr8:8p23.1-11.1	pathogenic
Single allele	duplication	not provided [RCV003448690]	Chr8:20868762..22701502 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	copy number gain	not provided [RCV003484722]	Chr8:11945856..37902453 [GRCh37] Chr8:8p23.1-11.23	pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	copy number gain	not provided [RCV003484713]	Chr8:2201405..41723095 [GRCh37] Chr8:8p23.2-11.21	pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	copy number gain	not provided [RCV003484724]	Chr8:12560782..38748763 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	copy number gain	not provided [RCV003484725]	Chr8:14240573..43824035 [GRCh37] Chr8:8p22-11.1	pathogenic
GRCh37/hg19 8p21.3(chr8:22492103-22913733)x3	copy number gain	not provided [RCV003484730]	Chr8:22492103..22913733 [GRCh37] Chr8:8p21.3	uncertain significance
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	copy number loss	not provided [RCV003483018]	Chr8:12490999..28150620 [GRCh37] Chr8:8p23.1-21.1	pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	copy number gain	not specified [RCV003986756]	Chr8:158048..41600696 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	copy number gain	not specified [RCV003986767]	Chr8:20136266..43786723 [GRCh37] Chr8:8p21.3-11.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_144962.3(PEBP4):c.233T>C (p.Ile78Thr)	single nucleotide variant	not specified [RCV004505696]	Chr8:22920209 [GRCh38] Chr8:22777722 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.460G>A (p.Val154Ile)	single nucleotide variant	not specified [RCV004505698]	Chr8:22724900 [GRCh38] Chr8:22582413 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.649A>C (p.Lys217Gln)	single nucleotide variant	not specified [RCV004505699]	Chr8:22713405 [GRCh38] Chr8:22570918 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.362C>G (p.Ala121Gly)	single nucleotide variant	not specified [RCV004505697]	Chr8:22727216 [GRCh38] Chr8:22584729 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.195C>G (p.Asn65Lys)	single nucleotide variant	not specified [RCV004655677]	Chr8:22920247 [GRCh38] Chr8:22777760 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.614C>G (p.Thr205Ser)	single nucleotide variant	not specified [RCV004655678]	Chr8:22713440 [GRCh38] Chr8:22570953 [GRCh37] Chr8:8p21.3	uncertain significance
NM_144962.3(PEBP4):c.230C>T (p.Pro77Leu)	single nucleotide variant	not specified [RCV004659816]	Chr8:22920212 [GRCh38] Chr8:22777725 [GRCh37] Chr8:8p21.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	700
Count of miRNA genes:	516
Interacting mature miRNAs:	584
Transcripts:	ENST00000256404, ENST00000521284, ENST00000522278
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1298482	BP2_H	Blood pressure QTL 2 (human)	1.8		Blood pressure	diastolic	8	6953256	32953256	Human
407019267	GWAS668243_H	lymphocyte percentage of leukocytes QTL GWAS668243 (human)		2e-10	lymphocyte percentage of leukocytes	blood lymphocyte count to total leukocyte count ratio (CMO:0000371)	8	22932411	22932412	Human
407123744	GWAS772720_H	visceral adipose tissue measurement QTL GWAS772720 (human)		0.000007	visceral adipose tissue measurement	abdominal fat morphological measurement (CMO:0000311)	8	22762038	22762039	Human
407267490	GWAS916466_H	body height QTL GWAS916466 (human)		3e-21	body height (VT:0001253)	body height (CMO:0000106)	8	22854294	22854295	Human
407351202	GWAS1000178_H	hair colour measurement QTL GWAS1000178 (human)		2e-26	hair colour measurement	coat/hair color measurement (CMO:0001808)	8	22743440	22743441	Human
406965316	GWAS614292_H	Child Behaviour Checklist assessment QTL GWAS614292 (human)		0.000001	Child Behaviour Checklist assessment		8	22905735	22905736	Human
407267491	GWAS916467_H	body height QTL GWAS916467 (human)		1e-09	body height (VT:0001253)	body height (CMO:0000106)	8	22931909	22931910	Human
407267489	GWAS916465_H	body height QTL GWAS916465 (human)		1e-21	body height (VT:0001253)	body height (CMO:0000106)	8	22743440	22743441	Human
407267147	GWAS916123_H	amino acid measurement QTL GWAS916123 (human)		0.000009	amino acid measurement		8	22721147	22721148	Human
407221096	GWAS870072_H	lymphocyte count QTL GWAS870072 (human)		1e-16	lymphocyte count	blood lymphocyte count (CMO:0000031)	8	22937745	22937746	Human
407267572	GWAS916548_H	amino acid measurement QTL GWAS916548 (human)		0.000005	amino acid measurement		8	22902917	22902918	Human
406912818	GWAS561794_H	bipolar disorder QTL GWAS561794 (human)		0.0000004	bipolar disorder		8	22916776	22916777	Human
407295220	GWAS944196_H	lymphocyte count QTL GWAS944196 (human)		1e-13	lymphocyte count	blood lymphocyte count (CMO:0000031)	8	22931671	22931672	Human
407390747	GWAS1039723_H	urate measurement, bone density QTL GWAS1039723 (human)		2e-08	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	8	22928816	22928817	Human
407264722	GWAS913698_H	basal cell carcinoma QTL GWAS913698 (human)		2e-08	basal cell carcinoma		8	22737541	22737542	Human
407278674	GWAS927650_H	hair color QTL GWAS927650 (human)		2e-12	hair color		8	22741908	22741909	Human
407310480	GWAS959456_H	triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS959456 (human)		2e-08	very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio	blood very low density lipoprotein cholesterol level (CMO:0000648)	8	22750522	22750523	Human
1558703	SCL6_H	Serum cholesterol level QTL 1 (human)	1.2		Lipid level	HDL cholesterol	8	12468635	38468635	Human
407140127	GWAS789103_H	asymmetrical dimethylarginine measurement, serum dimethylarginine measurement QTL GWAS789103 (human)		0.000001	asymmetrical dimethylarginine measurement, serum dimethylarginine measurement		8	22786194	22786195	Human
407314841	GWAS963817_H	very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS963817 (human)		3e-08	very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio	blood very low density lipoprotein cholesterol level (CMO:0000648)	8	22750522	22750523	Human
407345240	GWAS994216_H	lymphocyte count QTL GWAS994216 (human)		6e-10	lymphocyte count	blood lymphocyte count (CMO:0000031)	8	22932411	22932412	Human

Markers in Region

D8S1752

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	22,668,129 - 22,668,280	UniSTS	GRCh37
Build 36	8	22,724,074 - 22,724,225	RGD	NCBI36
Celera	8	21,630,517 - 21,630,666	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	21,211,319 - 21,211,462	UniSTS
Marshfield Genetic Map	8	46.26	RGD
Marshfield Genetic Map	8	46.26	UniSTS
Genethon Genetic Map	8	44.9	UniSTS
TNG Radiation Hybrid Map	8	12149.0	UniSTS
deCODE Assembly Map	8	40.75	UniSTS

SHGC-36225

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	22,615,535 - 22,615,643	UniSTS	GRCh37
Build 36	8	22,671,480 - 22,671,588	RGD	NCBI36
Celera	8	21,577,863 - 21,577,971	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	21,158,654 - 21,158,762	UniSTS
Stanford-G3 RH Map	8	1015.0	UniSTS
NCBI RH Map	8	292.8	UniSTS
GeneMap99-G3 RH Map	8	1102.0	UniSTS

G27363

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	22,570,786 - 22,570,918	UniSTS	GRCh37
Build 36	8	22,626,731 - 22,626,863	RGD	NCBI36
Cytogenetic Map	8	p21.3	UniSTS

SHGC-149783

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	22,577,523 - 22,577,793	UniSTS	GRCh37
Build 36	8	22,633,468 - 22,633,738	RGD	NCBI36
Celera	8	21,539,860 - 21,540,130	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	21,120,656 - 21,120,926	UniSTS
TNG Radiation Hybrid Map	8	12103.0	UniSTS

SHGC-5739

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	22,661,832 - 22,662,091	UniSTS	GRCh37
Build 36	8	22,717,777 - 22,718,036	RGD	NCBI36
Celera	8	21,624,220 - 21,624,479	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	21,205,018 - 21,205,277	UniSTS

SHGC-154288

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	22,687,293 - 22,687,564	UniSTS	GRCh37
Build 36	8	22,743,238 - 22,743,509	RGD	NCBI36
Celera	8	21,649,679 - 21,649,950	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	21,230,476 - 21,230,747	UniSTS
TNG Radiation Hybrid Map	8	12153.0	UniSTS

G32141

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	22,715,429 - 22,715,589	UniSTS	GRCh37
Build 36	8	22,771,374 - 22,771,534	RGD	NCBI36
Celera	8	21,677,817 - 21,677,977	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	21,259,407 - 21,259,567	UniSTS

RH48790

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	22,611,144 - 22,611,288	UniSTS	GRCh37
Build 36	8	22,667,089 - 22,667,233	RGD	NCBI36
Celera	8	21,573,472 - 21,573,616	RGD
Cytogenetic Map	8	p21.3	UniSTS
HuRef	8	21,154,265 - 21,154,409	UniSTS
GeneMap99-GB4 RH Map	8	99.58	UniSTS

RH124733

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	22,780,111 - 22,781,587	UniSTS	GRCh37
Celera	8	21,742,493 - 21,743,970	UniSTS
HuRef	8	21,324,592 - 21,326,069	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1203	2298	2788	2243	4842	1625	2122	5	525	1706	366	2176	6832	6215	44	3693	1	814	1667	1487	170	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001363233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_144962	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017013103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054359810	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC037441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC055854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC105046	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC107959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC134389	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX083422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX884144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX969204	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY037148	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY359109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY730275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020779	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF853000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ224332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GM720450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ891481	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000256404 ⟹ ENSP00000256404

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,713,251 - 22,927,914 (-)	Ensembl

Ensembl Acc Id:

ENST00000521284

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,815,073 - 22,941,336 (-)	Ensembl

Ensembl Acc Id:

ENST00000522278 ⟹ ENSP00000429414

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	22,927,584 - 23,000,000 (-)	Ensembl

RefSeq Acc Id:

NM_001363233 ⟹ NP_001350162

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,713,251 - 22,941,077 (-)	NCBI
T2T-CHM13v2.0	8	22,987,819 - 23,216,048 (-)	NCBI

Sequence:

show sequence

GAACCTTACTGAACCTCTCAAACTCTCAACATCCGCTGGCTCTGATTACCTTAAGGGCCCAAAC
TGAGGGGCACCCTGGAGGGAACTTTCTCCCCTCGTTCTCCAGGCCAGAAACCTGTCAAGGTGCC
CATGGGTTGGACAATGAGGCTGGTCACAGCAGCACTGTTACTGGGTCTCATGATGGTGGTCACT
GGAGACGAGGATGAGAACAGCCCGTGTGCCCATGAGGCCCTCTTGGACGAGGACACCCTCTTTT
GCCAGGGCCTTGAAGTTTTCTACCCAGAGTTGGGGAACATTGGCTGCAAGGTTGTTCCTGATTG
TAACAACTACAGACAGAAGATCACCTCCTGGATGGAGCCGATAGTCAAGTTCCCGGGGGCCGTG
GACGGCGCAACCTATATCCTGGTGATGGTGGATCCAGATGCCCCTAGCAGAGCAGAACCCAGAC
AGAGATTCTGGAGACATTGGCTGGTAACAGATATCAAGGGCGCCGACCTGAAGAAAGGGAAGAT
TCAGGGCCAGGAGTTATCAGCCTACCAGGCTCCCTCCCCACCGGCACACAGTGGCTTCCATCGC
TACCAGTTCTTTGTCTATCTTCAGGAAGGAAAAGTCATCTCTCTCCTTCCCAAGGAAAACAAAA
CTCGAGGCTCTTGGAAAATGGACAGATTTCTGAACCGTTTCCACCTGGGCGAACCTGAAGCAAG
CACCCAGTTCATGACCCAGAACTACCAGGACTCACCAACCCTCCAGGCTCCCAGAGAAAGGGCC
AGCGAGCCCAAGCACAAAAACCAGGCGGAGATAGCTGCCTGCTAGATAGCCGGCTTTGCCATCC
GGGCATGTGGCCACACTGCCCACCACCGACGATGTGGGTATGGAACCCCCTCTGGATACAGAAC
CCCTTCTTTTCCAAATAAAAAAAAAATCATCCAGGG

hide sequence

RefSeq Acc Id:

NM_144962 ⟹ NP_659399

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,713,251 - 22,927,914 (-)	NCBI
GRCh37	8	22,570,765 - 22,785,491 (-)	NCBI
Build 36	8	22,626,710 - 22,841,366 (-)	NCBI Archive
Celera	8	21,533,122 - 21,747,804 (-)	RGD
HuRef	8	21,113,907 - 21,329,903 (-)	RGD
CHM1_1	8	22,773,101 - 22,987,671 (-)	NCBI
T2T-CHM13v2.0	8	22,987,819 - 23,202,897 (-)	NCBI

Sequence:

show sequence

AGTCCTCCCAAAGTACTTGTGTCCGGGTGGTGGACTGGATTAGCTGCGGAGCCCTGGAAGCTGC
CTGTCCTTCTCCCTGTGCTTAACCAGAGGTGCCCATGGGTTGGACAATGAGGCTGGTCACAGCA
GCACTGTTACTGGGTCTCATGATGGTGGTCACTGGAGACGAGGATGAGAACAGCCCGTGTGCCC
ATGAGGCCCTCTTGGACGAGGACACCCTCTTTTGCCAGGGCCTTGAAGTTTTCTACCCAGAGTT
GGGGAACATTGGCTGCAAGGTTGTTCCTGATTGTAACAACTACAGACAGAAGATCACCTCCTGG
ATGGAGCCGATAGTCAAGTTCCCGGGGGCCGTGGACGGCGCAACCTATATCCTGGTGATGGTGG
ATCCAGATGCCCCTAGCAGAGCAGAACCCAGACAGAGATTCTGGAGACATTGGCTGGTAACAGA
TATCAAGGGCGCCGACCTGAAGAAAGGGAAGATTCAGGGCCAGGAGTTATCAGCCTACCAGGCT
CCCTCCCCACCGGCACACAGTGGCTTCCATCGCTACCAGTTCTTTGTCTATCTTCAGGAAGGAA
AAGTCATCTCTCTCCTTCCCAAGGAAAACAAAACTCGAGGCTCTTGGAAAATGGACAGATTTCT
GAACCGTTTCCACCTGGGCGAACCTGAAGCAAGCACCCAGTTCATGACCCAGAACTACCAGGAC
TCACCAACCCTCCAGGCTCCCAGAGAAAGGGCCAGCGAGCCCAAGCACAAAAACCAGGCGGAGA
TAGCTGCCTGCTAGATAGCCGGCTTTGCCATCCGGGCATGTGGCCACACTGCCCACCACCGACG
ATGTGGGTATGGAACCCCCTCTGGATACAGAACCCCTTCTTTTCCAAATAAAAAAAAAATCATC
CAGGG

hide sequence

RefSeq Acc Id:

XM_017013103 ⟹ XP_016868592

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,924,357 - 22,927,914 (-)	NCBI

Sequence:

show sequence

TCCAACTTGGAAGAGGCCCAGTCCTCCCAAAGTACTTGTGTCCGGGTGGTGGACTGGATTAGCT
GCGGAGCCCTGGAAGCTGCCTGTCCTTCTCCCTGTGCTTAACCAGAGGTGCCCATGGGTTGGAC
AATGAGGCTGGTCACAGCAGCACTGTTACTGGGTCTCATGATGGTGGTCACTGGAGACGAGGAT
GAGAACAGCCCGTGTGCCCATGAGGCCCTCTTGGACGAGGACACCCTCTTTTGCCAGTTCAGGG
CTCCCAGACTCGAGTCAAGGGGGCCCATTCTCAGGACTCCCAGAATACACCAGCAGGCCCCCAG
TCTGAGAAAGAGACTTATGACCTTAAGGTTGCATGCCAGGAAGATGTCTTTTGATTTCAAGCCA
TCATCGCAAAAGAGGAGCTTTGTCTTTATTGTCACTGAAGATTTTTGTTTGGAAGAGAGCATCA
TGAATGATGATGAAATGAAAAATGCATCAAGGACAGATCGGACCCCTGAGGAGACAGCAGGACC
TCCTGCACTGACCCCTCCTCAAGATCCCCACTCGGCTCAGGCTCTGACCTTGGCAAGAGATCCC
CCAGAGAAGGCACTCCTCTTGTGGGCATTTGGTCTACCAGGGAACTCTTAAAGATTGGACTCAA
TGCCTAAAGGTATTAATCTATAAGGGAGGAATTTTATGTACTGTGACAAGCTGTGAGACATTGT
TAAGAGTAACGCTTCTCGGGAATCAGACCTTCCCTGCTTCTGAGATACCCCAGACAAGACCAGC
AAAACCACCGACGGTCCCAACCCTGGGCTCAGTCGCAGAATGGAAAGAACCATGATTCTCCAAA
CCTGCAGCCAGGAGGTGAATCCACTCAAAAAACCCCACCTGCTGCTGCCATCCAGTCAGCCCTG
CAAGCTCCCCTAGGGATGGGAGCTGCTGCTCAAAGCGTCCTGCTTTTTGGTGTTGAAAAGCTCC
GTTCTTCAGAAAGTACATTCTTACCCCGAGGCCCTGCTGCTCTTCTTGAACACCAACCCTACCT
GTTGTAGTGCGGATCCACGAGGTGCACAAACTAGTCTAGTTTCTCATCTTCTTTGTGGTCATTC
ATGTGTGTGGTGACAGGTGCCATGCCCTGCCCTGCCCCTTCATCCCCAGCTCCCCCCAACCTGG
GCAGTCATCCCCAGTCCTTCAACCTCTCTCAGGGGCCTTGGTCTCTCCTGTTTAAATACATTTC
TTTTAGAGACA

hide sequence

RefSeq Acc Id:

XM_054359810 ⟹ XP_054215785

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	23,199,340 - 23,202,897 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001350162	(Get FASTA)	NCBI Sequence Viewer
	NP_659399	(Get FASTA)	NCBI Sequence Viewer
	XP_016868592	(Get FASTA)	NCBI Sequence Viewer
	XP_054215785	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH20779	(Get FASTA)	NCBI Sequence Viewer
	AAK67629	(Get FASTA)	NCBI Sequence Viewer
	AAQ89467	(Get FASTA)	NCBI Sequence Viewer
	AAW56965	(Get FASTA)	NCBI Sequence Viewer
	ACI46024	(Get FASTA)	NCBI Sequence Viewer
	ADO22343	(Get FASTA)	NCBI Sequence Viewer
	CAC33305	(Get FASTA)	NCBI Sequence Viewer
	CAE93779	(Get FASTA)	NCBI Sequence Viewer
	CAF14325	(Get FASTA)	NCBI Sequence Viewer
	CAT16638	(Get FASTA)	NCBI Sequence Viewer
	EAW63647	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000256404
	ENSP00000256404.6
	ENSP00000429414.1
GenBank Protein	Q96S96	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_659399 ⟸ NM_144962
- Peptide Label:	precursor
- UniProtKB:	Q5EVA1 (UniProtKB/Swiss-Prot), Q8WW74 (UniProtKB/Swiss-Prot), Q96S96 (UniProtKB/Swiss-Prot), V9HW76 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDC NNYRQKITSWMEPIVKFPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGADLKKGKI QGQELSAYQAPSPPAHSGFHRYQFFVYLQEGKVISLLPKENKTRGSWKMDRFLNRFHLGEPEAS TQFMTQNYQDSPTLQAPRERASEPKHKNQAEIAAC hide sequence

RefSeq Acc Id:	XP_016868592 ⟸ XM_017013103
- Peptide Label:	isoform X1
- Sequence:	show sequence MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQFRAPRLESRGPILRTPRIHQ QAPSLRKRLMTLRLHARKMSFDFKPSSQKRSFVFIVTEDFCLEESIMNDDEMKNASRTDRTPEE TAGPPALTPPQDPHSAQALTLARDPPEKALLLWAFGLPGNS hide sequence

RefSeq Acc Id:	NP_001350162 ⟸ NM_001363233
- Peptide Label:	precursor
- UniProtKB:	Q96S96 (UniProtKB/Swiss-Prot), Q5EVA1 (UniProtKB/Swiss-Prot), Q8WW74 (UniProtKB/Swiss-Prot), V9HW76 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000256404 ⟸ ENST00000256404

Ensembl Acc Id:

ENSP00000429414 ⟸ ENST00000522278

RefSeq Acc Id:	XP_054215785 ⟸ XM_054359810
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96S96-F1-model_v2	AlphaFold	Q96S96	1-227	view protein structure

Promoters

RGD ID:

7212835

Promoter ID:

EPDNEW_H12163

Type:

initiation region

Name:

PEBP4_1

Description:

phosphatidylethanolamine binding protein 4

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	22,927,914 - 22,927,974	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28319	AgrOrtholog
COSMIC	PEBP4	COSMIC
Ensembl Genes	ENSG00000134020	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000256404	ENTREZGENE
	ENST00000256404.8	UniProtKB/Swiss-Prot
	ENST00000522278.1	UniProtKB/TrEMBL
Gene3D-CATH	3.90.280.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000134020	GTEx
HGNC ID	HGNC:28319	ENTREZGENE
Human Proteome Map	PEBP4	Human Proteome Map
InterPro	PEBP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PEBP-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PEBP_euk	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Phosphatidylethanolamine-bd_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:157310	UniProtKB/Swiss-Prot
NCBI Gene	157310	ENTREZGENE
OMIM	612473	OMIM
PANTHER	PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN	UniProtKB/TrEMBL
	PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11362	UniProtKB/Swiss-Prot
Pfam	PBP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA165585814	PharmGKB
PROSITE	PBP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	PEBP-like	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt	E5RIK3_HUMAN	UniProtKB/TrEMBL
	PEBP4_HUMAN	UniProtKB/Swiss-Prot
	Q5EVA1	ENTREZGENE
	Q8WW74	ENTREZGENE
	Q96S96	ENTREZGENE
	V9HW76	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	Q5EVA1	UniProtKB/Swiss-Prot
	Q8WW74	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	PEBP4	phosphatidylethanolamine binding protein 4	PEBP4	phosphatidylethanolamine-binding protein 4	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