Advanced Search (OLGA)

Gene: PCDHB4 (protocadherin beta 4) Homo sapiens

Subscribe to Updates

Analyze

Symbol:

PCDHB4

Name:

protocadherin beta 4

RGD ID:

1312238

HGNC Page

HGNC:8689

Description:

Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

PCDH-beta-4; PCDH-BETA4; protocadherin beta-4

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	5	141,121,818 - 141,125,623 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	141,121,818 - 141,125,623 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	140,501,400 - 140,505,205 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	140,481,765 - 140,485,385 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	140,481,764 - 140,485,385	NCBI
Celera	5	136,578,393 - 136,582,013 (+)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	135,646,277 - 135,649,897 (+)	NCBI		HuRef
CHM1_1	5	139,934,771 - 139,938,391 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	141,647,136 - 141,650,941 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PCDHB4	Human	autosomal dominant intellectual developmental disorder 31		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY more ...	ClinVar	PMID:28492532
PCDHB4	Human	epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25558065
PCDHB4	Human	familial adenomatous polyposis 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial adenomatous polyposis 1	ClinVar	PMID:17963004 more ...
PCDHB4	Human	Hereditary Neoplastic Syndromes		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:17963004 more ...
PCDHB4	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PCDHB4	Human	1,2-dimethylhydrazine	decreases expression	ISO	Pcdhb5 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of PCDHB4 mRNA	CTD	PMID:22206623
PCDHB4	Human	17beta-estradiol	multiple interactions	EXP		6480464	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of PCDHB4 mRNA	CTD	PMID:20823114
PCDHB4	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of PCDHB4 mRNA	CTD	PMID:33387578
PCDHB4	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of PCDHB8 mRNA	CTD	PMID:32109520
PCDHB4	Human	5-azacytidine	decreases expression	EXP		6480464	Azacitidine results in decreased expression of PCDHB4 mRNA	CTD	PMID:20823114
PCDHB4	Human	6-propyl-2-thiouracil	increases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of PCDHB8 mRNA	CTD	PMID:24780913
PCDHB4	Human	8-Br-cAMP	increases expression	EXP		6480464	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of PCDHB4 mRNA	CTD	PMID:20147733
PCDHB4	Human	acrylamide	increases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Acrylamide results in increased expression of PCDHB8 mRNA	CTD	PMID:28959563
PCDHB4	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of PCDHB4 gene	CTD	PMID:27153756
PCDHB4	Human	atrazine	decreases expression	EXP		6480464	Atrazine results in decreased expression of PCDHB4 mRNA	CTD	PMID:22378314
PCDHB4	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of PCDHB4 exon	CTD	PMID:27901495
PCDHB4	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of PCDHB4 promoter	CTD	PMID:27901495
PCDHB4	Human	bis(2-ethylhexyl) phthalate	decreases expression	ISO	Pcdhb5 (Mus musculus)	6480464	Diethylhexyl Phthalate results in decreased expression of PCDHB4 mRNA	CTD	PMID:34319233
PCDHB4	Human	bisphenol A	decreases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of PCDHB4 mRNA and bisphenol A results in decreased expression of PCDHB8 mRNA	CTD	PMID:25181051 more ...
PCDHB4	Human	bisphenol F	decreases expression	ISO	Pcdhb5 (Mus musculus)	6480464	bisphenol F results in decreased expression of PCDHB4 mRNA	CTD	PMID:30951980
PCDHB4	Human	bucladesine	multiple interactions	EXP		6480464	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of PCDHB4 mRNA	CTD	PMID:20823114
PCDHB4	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to PCDHB4 gene]	CTD	PMID:28238834
PCDHB4	Human	copper atom	increases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Copper deficiency results in increased expression of PCDHB4 mRNA	CTD	PMID:26033743
PCDHB4	Human	copper(0)	increases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Copper deficiency results in increased expression of PCDHB4 mRNA	CTD	PMID:26033743
PCDHB4	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of PCDHB4 mRNA	CTD	PMID:20106945
PCDHB4	Human	disodium selenite	decreases expression	EXP		6480464	Sodium Selenite results in decreased expression of PCDHB4 mRNA	CTD	PMID:18175754
PCDHB4	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PCDHB4 mRNA	CTD	PMID:27188386
PCDHB4	Human	entinostat	decreases expression	EXP		6480464	entinostat results in decreased expression of PCDHB4 mRNA	CTD	PMID:27188386
PCDHB4	Human	folic acid	decreases expression	ISO	Pcdhb5 (Mus musculus)	6480464	Folic Acid results in decreased expression of PCDHB4 mRNA	CTD	PMID:25629700
PCDHB4	Human	medroxyprogesterone acetate	multiple interactions	EXP		6480464	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of PCDHB4 mRNA	CTD	PMID:20823114
PCDHB4	Human	mercury atom	decreases expression	ISO	Pcdhb5 (Mus musculus)	6480464	Mercury results in decreased expression of PCDHB4 mRNA	CTD	PMID:22008530
PCDHB4	Human	mercury(0)	decreases expression	ISO	Pcdhb5 (Mus musculus)	6480464	Mercury results in decreased expression of PCDHB4 mRNA	CTD	PMID:22008530
PCDHB4	Human	methylmercury chloride	decreases expression	EXP		6480464	methylmercuric chloride results in decreased expression of PCDHB4 mRNA	CTD	PMID:28001369
PCDHB4	Human	Monobutylphthalate	increases expression	ISO	Pcdhb5 (Mus musculus)	6480464	monobutyl phthalate results in increased expression of PCDHB4 mRNA	CTD	PMID:35278568
PCDHB4	Human	N-methyl-4-phenylpyridinium	decreases expression	EXP		6480464	1-Methyl-4-phenylpyridinium results in decreased expression of PCDHB4 mRNA	CTD	PMID:24810058
PCDHB4	Human	nickel atom	decreases expression	EXP		6480464	Nickel results in decreased expression of PCDHB4 mRNA	CTD	PMID:25583101
PCDHB4	Human	potassium dichromate	increases expression	ISO	Pcdhb5 (Mus musculus)	6480464	Potassium Dichromate results in increased expression of PCDHB4 mRNA	CTD	PMID:23608068
PCDHB4	Human	pravastatin	increases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Pravastatin results in increased expression of PCDHB4 mRNA	CTD	PMID:27225895
PCDHB4	Human	pravastatin	increases expression	ISO	Pcdhb5 (Mus musculus)	6480464	Pravastatin results in increased expression of PCDHB4 mRNA	CTD	PMID:27225895
PCDHB4	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PCDHB4 mRNA	CTD	PMID:27188386
PCDHB4	Human	trichloroethene	decreases methylation	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Trichloroethylene results in decreased methylation of PCDHB4 gene	CTD	PMID:27618143
PCDHB4	Human	trichloroethene	decreases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Trichloroethylene results in decreased expression of PCDHB8 mRNA	CTD	PMID:33387578
PCDHB4	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of PCDHB4 mRNA	CTD	PMID:25979313
PCDHB4	Human	valproic acid	increases expression	ISO	Pcdhb5 (Rattus norvegicus)	6480464	Valproic Acid results in increased expression of PCDHB8 mRNA	CTD	PMID:29427782
PCDHB4	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of PCDHB4 mRNA	CTD	PMID:23179753 more ...
PCDHB4	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PCDHB4 mRNA	CTD	PMID:27188386
PCDHB4	Human	vorinostat	decreases expression	EXP		6480464	vorinostat results in decreased expression of PCDHB4 mRNA	CTD	PMID:27188386

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PCDHB4	Human	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	involved_in	NAS		150520179	PMID:11322959	UniProt	PMID:11322959
PCDHB4	Human	cell adhesion	involved_in	IEA	UniProtKB-KW:KW-0130	150520179		UniProt	GO_REF:0000043
PCDHB4	Human	cell adhesion	involved_in	IEA	InterPro:IPR020894	150520179		InterPro	GO_REF:0000002
PCDHB4	Human	cell adhesion	involved_in	TAS		150520179	PMID:10380929	PINC	PMID:10380929
PCDHB4	Human	cell adhesion	involved_in	IBA	MGI:106671 more ...	150520179		GO_Central	GO_REF:0000033
PCDHB4	Human	chemical synaptic transmission	involved_in	TAS		150520179	PMID:12231349	UniProt	PMID:12231349
PCDHB4	Human	homophilic cell adhesion via plasma membrane adhesion molecules	involved_in	IEA	InterPro:IPR002126	150520179		InterPro	GO_REF:0000002
PCDHB4	Human	nervous system development	involved_in	TAS		150520179	PMID:10380929	PINC	PMID:10380929
PCDHB4	Human	nervous system development	involved_in	IEA	ARBA:ARBA00027428	150520179		UniProt	GO_REF:0000117
PCDHB4	Human	synapse assembly	involved_in	TAS		150520179	PMID:12231349	UniProt	PMID:12231349

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PCDHB4	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
PCDHB4	Human	membrane	located_in	IEA	InterPro:IPR002126 and InterPro:IPR015919	150520179		InterPro	GO_REF:0000002
PCDHB4	Human	membrane	located_in	NAS		150520179	PMID:11322959	UniProt	PMID:11322959
PCDHB4	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
PCDHB4	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
PCDHB4	Human	plasma membrane	is_active_in	IBA	MGI:106671 more ...	150520179		GO_Central	GO_REF:0000033
PCDHB4	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
PCDHB4	Human	plasma membrane	located_in	IEA	InterPro:IPR020894	150520179		InterPro	GO_REF:0000002
PCDHB4	Human	plasma membrane	located_in	TAS		150520179	PMID:10380929	PINC	PMID:10380929
PCDHB4	Human	synapse	located_in	IEA	GO:0007268	150520179		GOC	GO_REF:0000108

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PCDHB4	Human	calcium ion binding	enables	IEA	UniRule:UR000413450	150520179		UniProt	GO_REF:0000104
PCDHB4	Human	calcium ion binding	enables	IEA	InterPro:IPR002126 and InterPro:IPR015919	150520179		InterPro	GO_REF:0000002

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PCDHB4	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures	ClinVar	PMID:25558065

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:10380929	PMID:10716726	PMID:10817752	PMID:10835267	PMID:11230163	PMID:11322959	PMID:12231349	PMID:12477932	PMID:15489334	PMID:16344560	PMID:18029348	PMID:21873635
PMID:33961781

PCDHB4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	141,121,818 - 141,125,623 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	141,121,818 - 141,125,623 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	140,501,400 - 140,505,205 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	140,481,765 - 140,485,385 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	140,481,764 - 140,485,385	NCBI
Celera	5	136,578,393 - 136,582,013 (+)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	135,646,277 - 135,649,897 (+)	NCBI		HuRef
CHM1_1	5	139,934,771 - 139,938,391 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	141,647,136 - 141,650,941 (+)	NCBI		T2T-CHM13v2.0

Pcdhb5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	37,453,434 - 37,456,966 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	37,453,434 - 37,456,968 (+)	Ensembl		GRCm39 Ensembl
GRCm38	18	37,320,381 - 37,323,913 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	37,320,381 - 37,323,915 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	37,480,035 - 37,483,567 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	37,446,365 - 37,449,887 (+)	NCBI		MGSCv36	mm8
MGSCv36	18	37,507,497 - 37,511,019 (+)	NCBI		MGSCv36	mm8
Celera	18	38,665,642 - 38,669,173 (+)	NCBI		Celera
Cytogenetic Map	18	B3	NCBI
cM Map	18	19.47	NCBI

Pcdhb5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	29,302,466 - 29,305,048 (+)	NCBI		GRCr8
mRatBN7.2	18	29,024,315 - 29,032,183 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	29,028,382 - 29,053,259 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	29,155,586 - 29,158,168 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	29,917,648 - 29,920,230 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	29,252,881 - 29,255,463 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	30,398,113 - 30,400,695 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	30,398,113 - 30,400,695 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	30,105,642 - 30,108,224 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	30,127,192 - 30,129,774 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	30,154,026 - 30,156,418 (+)	NCBI
Celera	18	28,731,022 - 28,733,604 (+)	NCBI		Celera
Cytogenetic Map	18	p11	NCBI

LOC103783391
(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	4	136,364,588 - 136,382,380 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	134,514,756 - 134,521,932 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	136,484,686 - 136,489,194 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	142,598,785 - 142,601,642 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

LOC100855970
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	36,178,858 - 36,184,360 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	33,230,768 - 33,236,860 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	36,633,421 - 36,637,791 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	36,634,378 - 36,637,779 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	33,707,773 - 33,713,672 (+)	NCBI		UMICH_Zoey_3.1
UU_Cfam_GSD_1.0	2	35,326,167 - 35,332,258 (+)	NCBI		UU_Cfam_GSD_1.0

LOC110259512
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	2	142,816,658 - 142,822,048 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

PCDHB4
(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	23	43,747,220 - 43,765,491 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666034	34,102,963 - 34,108,374 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants in PCDHB4
112 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	copy number gain	See cases [RCV000051193]	Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	copy number loss	See cases [RCV000052142]	Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32	pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	copy number loss	See cases [RCV000053524]	Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2	pathogenic
NM_018938.3(PCDHB4):c.258G>A (p.Arg86=)	single nucleotide variant	Malignant melanoma [RCV000066699]	Chr5:141122256 [GRCh38] Chr5:140501838 [GRCh37] Chr5:140482022 [NCBI36] Chr5:5q31.3	not provided
NM_018938.3(PCDHB4):c.259G>A (p.Glu87Lys)	single nucleotide variant	Malignant melanoma [RCV000066700]	Chr5:141122257 [GRCh38] Chr5:140501839 [GRCh37] Chr5:140482023 [NCBI36] Chr5:5q31.3	not provided
NM_018938.3(PCDHB4):c.581T>G (p.Val194Gly)	single nucleotide variant	Malignant melanoma [RCV000066701]	Chr5:141122579 [GRCh38] Chr5:140502161 [GRCh37] Chr5:140482345 [NCBI36] Chr5:5q31.3	not provided
NM_018938.3(PCDHB4):c.1830G>A (p.Glu610=)	single nucleotide variant	Malignant melanoma [RCV000066702]	Chr5:141123828 [GRCh38] Chr5:140503410 [GRCh37] Chr5:140483594 [NCBI36] Chr5:5q31.3	not provided
NM_018938.3(PCDHB4):c.2350G>A (p.Glu784Lys)	single nucleotide variant	Malignant melanoma [RCV000061143]	Chr5:141124348 [GRCh38] Chr5:140503930 [GRCh37] Chr5:140484114 [NCBI36] Chr5:5q31.3	not provided
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	copy number loss	See cases [RCV000136949]	Chr5:140963199..142322798 [GRCh38] Chr5:140453735..141702363 [GRCh37] Chr5:140322968..141682547 [NCBI36] Chr5:5q31.3	uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	copy number gain	See cases [RCV000138808]	Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2	pathogenic
GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	copy number gain	See cases [RCV000139504]	Chr5:141089988..149530678 [GRCh38] Chr5:140469572..148910241 [GRCh37] Chr5:140449756..148890434 [NCBI36] Chr5:5q31.3-32	pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3	copy number gain	See cases [RCV000142806]	Chr5:138942857..144605017 [GRCh38] Chr5:138278546..143984580 [GRCh37] Chr5:138306445..143964773 [NCBI36] Chr5:5q31.2-31.3	uncertain significance
NM_018938.4(PCDHB4):c.915del (p.Lys305fs)	deletion	Epilepsy [RCV002464133]\|Seizure [RCV000162121]\|not provided [RCV001589022]	Chr5:141122905 [GRCh38] Chr5:140502487 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance\|not provided
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	copy number gain	not provided [RCV000487658]	Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3	likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV004561496]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3	copy number gain	See cases [RCV000449349]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_018938.4(PCDHB4):c.1858A>G (p.Asn620Asp)	single nucleotide variant	not specified [RCV004313659]	Chr5:141123856 [GRCh38] Chr5:140503438 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1698T>G (p.Asn566Lys)	single nucleotide variant	not specified [RCV004298250]	Chr5:141123696 [GRCh38] Chr5:140503278 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	copy number loss	not provided [RCV000682600]	Chr5:139147238..141540491 [GRCh37] Chr5:5q31.2-31.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NM_018938.4(PCDHB4):c.1998C>T (p.Ser666=)	single nucleotide variant	not provided [RCV000893207]	Chr5:141123996 [GRCh38] Chr5:140503578 [GRCh37] Chr5:5q31.3	likely benign
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
NM_018938.4(PCDHB4):c.1704C>T (p.Ser568=)	single nucleotide variant	not provided [RCV000905583]	Chr5:141123702 [GRCh38] Chr5:140503284 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1437G>A (p.Ser479=)	single nucleotide variant	not provided [RCV000971515]	Chr5:141123435 [GRCh38] Chr5:140503017 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1657A>G (p.Thr553Ala)	single nucleotide variant	not provided [RCV000948304]	Chr5:141123655 [GRCh38] Chr5:140503237 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1343C>G (p.Pro448Arg)	single nucleotide variant	not specified [RCV004291441]	Chr5:141123341 [GRCh38] Chr5:140502923 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.503A>G (p.Lys168Arg)	single nucleotide variant	not provided [RCV000961654]	Chr5:141122501 [GRCh38] Chr5:140502083 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1572G>A (p.Gln524=)	single nucleotide variant	not provided [RCV000879081]	Chr5:141123570 [GRCh38] Chr5:140503152 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.853G>C (p.Asp285His)	single nucleotide variant	not provided [RCV000958824]	Chr5:141122851 [GRCh38] Chr5:140502433 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1989T>C (p.Asp663=)	single nucleotide variant	not provided [RCV000893206]	Chr5:141123987 [GRCh38] Chr5:140503569 [GRCh37] Chr5:5q31.3	benign
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	copy number gain	not provided [RCV000848228]	Chr5:140424333..148985999 [GRCh37] Chr5:5q31.3-32	uncertain significance
NM_018938.4(PCDHB4):c.1339G>C (p.Ala447Pro)	single nucleotide variant	not provided [RCV000974565]	Chr5:141123337 [GRCh38] Chr5:140502919 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1340C>A (p.Ala447Asp)	single nucleotide variant	not provided [RCV000974566]	Chr5:141123338 [GRCh38] Chr5:140502920 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1833T>C (p.Pro611=)	single nucleotide variant	not provided [RCV000974567]	Chr5:141123831 [GRCh38] Chr5:140503413 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1917C>G (p.Leu639=)	single nucleotide variant	not provided [RCV000930907]	Chr5:141123915 [GRCh38] Chr5:140503497 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.630C>T (p.Thr210=)	single nucleotide variant	not provided [RCV000908045]	Chr5:141122628 [GRCh38] Chr5:140502210 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1451A>G (p.Gln484Arg)	single nucleotide variant	not provided [RCV000892269]	Chr5:141123449 [GRCh38] Chr5:140503031 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.2052T>G (p.Ser684=)	single nucleotide variant	not provided [RCV000923688]	Chr5:141124050 [GRCh38] Chr5:140503632 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1153C>T (p.Pro385Ser)	single nucleotide variant	not provided [RCV000966350]	Chr5:141123151 [GRCh38] Chr5:140502733 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1521A>G (p.Ala507=)	single nucleotide variant	not provided [RCV000948709]	Chr5:141123519 [GRCh38] Chr5:140503101 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.130G>T (p.Val44Leu)	single nucleotide variant	not provided [RCV000975081]	Chr5:141122128 [GRCh38] Chr5:140501710 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.179C>T (p.Ser60Phe)	single nucleotide variant	not provided [RCV000956312]	Chr5:141122177 [GRCh38] Chr5:140501759 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.764C>T (p.Pro255Leu)	single nucleotide variant	not provided [RCV001596716]	Chr5:141122762 [GRCh38] Chr5:140502344 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.763C>T (p.Pro255Ser)	single nucleotide variant	not provided [RCV001647954]	Chr5:141122761 [GRCh38] Chr5:140502343 [GRCh37] Chr5:5q31.3	benign
NC_000005.9:g.(?_136633338)_(140998481_?)dup	duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088]	Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3	uncertain significance
NM_018938.4(PCDHB4):c.597G>A (p.Leu199=)	single nucleotide variant	not provided [RCV001540054]	Chr5:141122595 [GRCh38] Chr5:140502177 [GRCh37] Chr5:5q31.3	benign
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202]	Chr5:139493717..140517454 [GRCh37] Chr5:5q31.2-31.3	pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)	copy number gain	not specified [RCV002053526]	Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3	pathogenic
NM_018938.4(PCDHB4):c.2231T>A (p.Leu744Gln)	single nucleotide variant	not specified [RCV004236087]	Chr5:141124229 [GRCh38] Chr5:140503811 [GRCh37] Chr5:5q31.3	uncertain significance
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3	copy number gain	not provided [RCV002474614]	Chr5:140082762..140773954 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2202T>G (p.His734Gln)	single nucleotide variant	not specified [RCV004205109]	Chr5:141124200 [GRCh38] Chr5:140503782 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1507G>A (p.Val503Ile)	single nucleotide variant	not specified [RCV004164732]	Chr5:141123505 [GRCh38] Chr5:140503087 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2006A>G (p.Tyr669Cys)	single nucleotide variant	not specified [RCV004143662]	Chr5:141124004 [GRCh38] Chr5:140503586 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1648G>A (p.Val550Met)	single nucleotide variant	not specified [RCV004238766]	Chr5:141123646 [GRCh38] Chr5:140503228 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1796C>G (p.Ala599Gly)	single nucleotide variant	not specified [RCV004082885]	Chr5:141123794 [GRCh38] Chr5:140503376 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1249A>T (p.Asn417Tyr)	single nucleotide variant	not specified [RCV004103867]	Chr5:141123247 [GRCh38] Chr5:140502829 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1172T>C (p.Ile391Thr)	single nucleotide variant	not specified [RCV004133398]	Chr5:141123170 [GRCh38] Chr5:140502752 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.803T>C (p.Ile268Thr)	single nucleotide variant	not specified [RCV004150611]	Chr5:141122801 [GRCh38] Chr5:140502383 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.772T>C (p.Ser258Pro)	single nucleotide variant	not specified [RCV004198824]	Chr5:141122770 [GRCh38] Chr5:140502352 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2329G>C (p.Asp777His)	single nucleotide variant	not specified [RCV004095327]	Chr5:141124327 [GRCh38] Chr5:140503909 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.931A>C (p.Ile311Leu)	single nucleotide variant	not specified [RCV004132469]	Chr5:141122929 [GRCh38] Chr5:140502511 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1601A>G (p.Asp534Gly)	single nucleotide variant	not specified [RCV004178769]	Chr5:141123599 [GRCh38] Chr5:140503181 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1890C>G (p.Ser630Arg)	single nucleotide variant	not specified [RCV004078512]	Chr5:141123888 [GRCh38] Chr5:140503470 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1375G>C (p.Val459Leu)	single nucleotide variant	not specified [RCV004206866]	Chr5:141123373 [GRCh38] Chr5:140502955 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2367A>T (p.Arg789Ser)	single nucleotide variant	not specified [RCV004113172]	Chr5:141124365 [GRCh38] Chr5:140503947 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.181C>G (p.Arg61Gly)	single nucleotide variant	not specified [RCV004234392]	Chr5:141122179 [GRCh38] Chr5:140501761 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.932T>C (p.Ile311Thr)	single nucleotide variant	not specified [RCV004173598]	Chr5:141122930 [GRCh38] Chr5:140502512 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1277G>A (p.Gly426Glu)	single nucleotide variant	not specified [RCV004123078]	Chr5:141123275 [GRCh38] Chr5:140502857 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1374C>A (p.Phe458Leu)	single nucleotide variant	not specified [RCV004245625]	Chr5:141123372 [GRCh38] Chr5:140502954 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.17G>A (p.Arg6Lys)	single nucleotide variant	not specified [RCV004191430]	Chr5:141122015 [GRCh38] Chr5:140501597 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.586G>A (p.Asp196Asn)	single nucleotide variant	not specified [RCV004183616]	Chr5:141122584 [GRCh38] Chr5:140502166 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1480G>A (p.Asp494Asn)	single nucleotide variant	not specified [RCV004210589]	Chr5:141123478 [GRCh38] Chr5:140503060 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.634G>A (p.Val212Met)	single nucleotide variant	not specified [RCV004212304]	Chr5:141122632 [GRCh38] Chr5:140502214 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1039A>T (p.Ile347Phe)	single nucleotide variant	not specified [RCV004172648]	Chr5:141123037 [GRCh38] Chr5:140502619 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.932T>G (p.Ile311Ser)	single nucleotide variant	not specified [RCV004145278]	Chr5:141122930 [GRCh38] Chr5:140502512 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.491A>G (p.Asn164Ser)	single nucleotide variant	not specified [RCV004079838]	Chr5:141122489 [GRCh38] Chr5:140502071 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.652T>A (p.Ser218Thr)	single nucleotide variant	not specified [RCV004264144]	Chr5:141122650 [GRCh38] Chr5:140502232 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1239C>A (p.Ser413Arg)	single nucleotide variant	not specified [RCV004266685]	Chr5:141123237 [GRCh38] Chr5:140502819 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1517A>G (p.Asn506Ser)	single nucleotide variant	not specified [RCV004249260]	Chr5:141123515 [GRCh38] Chr5:140503097 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.5A>G (p.Lys2Arg)	single nucleotide variant	not specified [RCV004318024]	Chr5:141122003 [GRCh38] Chr5:140501585 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1548G>T (p.Arg516Ser)	single nucleotide variant	not specified [RCV004254582]	Chr5:141123546 [GRCh38] Chr5:140503128 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1543C>T (p.Leu515Phe)	single nucleotide variant	not specified [RCV004300685]	Chr5:141123541 [GRCh38] Chr5:140503123 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1187T>G (p.Leu396Trp)	single nucleotide variant	not specified [RCV004356341]	Chr5:141123185 [GRCh38] Chr5:140502767 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1060T>A (p.Ser354Thr)	single nucleotide variant	not specified [RCV004349340]	Chr5:141123058 [GRCh38] Chr5:140502640 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1061C>A (p.Ser354Tyr)	single nucleotide variant	not specified [RCV004349341]	Chr5:141123059 [GRCh38] Chr5:140502641 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1079_1080del (p.Pro360fs)	deletion	not provided [RCV003429823]	Chr5:141123077..141123078 [GRCh38] Chr5:140502659..140502660 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.95A>T (p.Tyr32Phe)	single nucleotide variant	not specified [RCV004498101]	Chr5:141122093 [GRCh38] Chr5:140501675 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.968G>C (p.Gly323Ala)	single nucleotide variant	not specified [RCV004498102]	Chr5:141122966 [GRCh38] Chr5:140502548 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.217C>G (p.Arg73Gly)	single nucleotide variant	not specified [RCV004498093]	Chr5:141122215 [GRCh38] Chr5:140501797 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2185G>A (p.Gly729Ser)	single nucleotide variant	not specified [RCV004498094]	Chr5:141124183 [GRCh38] Chr5:140503765 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2321T>G (p.Leu774Trp)	single nucleotide variant	not specified [RCV004498096]	Chr5:141124319 [GRCh38] Chr5:140503901 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.638C>G (p.Ala213Gly)	single nucleotide variant	not specified [RCV004498099]	Chr5:141122636 [GRCh38] Chr5:140502218 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.678G>A (p.Met226Ile)	single nucleotide variant	not specified [RCV004498100]	Chr5:141122676 [GRCh38] Chr5:140502258 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1024A>G (p.Asn342Asp)	single nucleotide variant	not specified [RCV004498088]	Chr5:141123022 [GRCh38] Chr5:140502604 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2328G>C (p.Gln776His)	single nucleotide variant	not specified [RCV004498097]	Chr5:141124326 [GRCh38] Chr5:140503908 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2127G>A (p.Ala709=)	single nucleotide variant	EBV-positive nodal T- and NK-cell lymphoma [RCV004557868]	Chr5:141124125 [GRCh38] Chr5:140503707 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1911C>G (p.His637Gln)	single nucleotide variant	not specified [RCV004498092]	Chr5:141123909 [GRCh38] Chr5:140503491 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.125C>A (p.Ser42Tyr)	single nucleotide variant	not specified [RCV004498090]	Chr5:141122123 [GRCh38] Chr5:140501705 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.271C>T (p.Arg91Trp)	single nucleotide variant	not specified [RCV004498098]	Chr5:141122269 [GRCh38] Chr5:140501851 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1484C>T (p.Pro495Leu)	single nucleotide variant	not specified [RCV004664420]	Chr5:141123482 [GRCh38] Chr5:140503064 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.778A>G (p.Ile260Val)	single nucleotide variant	not specified [RCV004664422]	Chr5:141122776 [GRCh38] Chr5:140502358 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.710A>G (p.Asn237Ser)	single nucleotide variant	not specified [RCV004664419]	Chr5:141122708 [GRCh38] Chr5:140502290 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2276G>C (p.Gly759Ala)	single nucleotide variant	not specified [RCV004664421]	Chr5:141124274 [GRCh38] Chr5:140503856 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1573G>T (p.Ala525Ser)	single nucleotide variant	not specified [RCV004653206]	Chr5:141123571 [GRCh38] Chr5:140503153 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1436C>T (p.Ser479Leu)	single nucleotide variant	not specified [RCV004653209]	Chr5:141123434 [GRCh38] Chr5:140503016 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1469T>C (p.Leu490Pro)	single nucleotide variant	not specified [RCV004664423]	Chr5:141123467 [GRCh38] Chr5:140503049 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1498G>T (p.Ala500Ser)	single nucleotide variant	not specified [RCV004664425]	Chr5:141123496 [GRCh38] Chr5:140503078 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1295C>T (p.Thr432Ile)	single nucleotide variant	not specified [RCV004664424]	Chr5:141123293 [GRCh38] Chr5:140502875 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2161G>A (p.Val721Met)	single nucleotide variant	not specified [RCV004664426]	Chr5:141124159 [GRCh38] Chr5:140503741 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1603C>A (p.Arg535Ser)	single nucleotide variant	not specified [RCV004653205]	Chr5:141123601 [GRCh38] Chr5:140503183 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2158T>C (p.Ser720Pro)	single nucleotide variant	not specified [RCV004653208]	Chr5:141124156 [GRCh38] Chr5:140503738 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2246A>C (p.Gln749Pro)	single nucleotide variant	not specified [RCV004843902]	Chr5:141124244 [GRCh38] Chr5:140503826 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1346C>T (p.Ala449Val)	single nucleotide variant	not specified [RCV004843904]	Chr5:141123344 [GRCh38] Chr5:140502926 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1826C>T (p.Thr609Met)	single nucleotide variant	not specified [RCV004843905]	Chr5:141123824 [GRCh38] Chr5:140503406 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1559A>G (p.Tyr520Cys)	single nucleotide variant	not specified [RCV004843906]	Chr5:141123557 [GRCh38] Chr5:140503139 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1847T>G (p.Val616Gly)	single nucleotide variant	not specified [RCV004843908]	Chr5:141123845 [GRCh38] Chr5:140503427 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2202T>A (p.His734Gln)	single nucleotide variant	not specified [RCV004843909]	Chr5:141124200 [GRCh38] Chr5:140503782 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1069G>A (p.Glu357Lys)	single nucleotide variant	not specified [RCV004843910]	Chr5:141123067 [GRCh38] Chr5:140502649 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.250C>T (p.Leu84Phe)	single nucleotide variant	not specified [RCV004843912]	Chr5:141122248 [GRCh38] Chr5:140501830 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.619T>C (p.Phe207Leu)	single nucleotide variant	not specified [RCV004843903]	Chr5:141122617 [GRCh38] Chr5:140502199 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1952G>C (p.Arg651Pro)	single nucleotide variant	not specified [RCV004843907]	Chr5:141123950 [GRCh38] Chr5:140503532 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1661A>G (p.Asn554Ser)	single nucleotide variant	not specified [RCV004843898]	Chr5:141123659 [GRCh38] Chr5:140503241 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1765G>A (p.Val589Met)	single nucleotide variant	not specified [RCV004843899]	Chr5:141123763 [GRCh38] Chr5:140503345 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2132G>T (p.Arg711Leu)	single nucleotide variant	not specified [RCV004843900]	Chr5:141124130 [GRCh38] Chr5:140503712 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1181C>A (p.Pro394Gln)	single nucleotide variant	not specified [RCV004843901]	Chr5:141123179 [GRCh38] Chr5:140502761 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2309T>G (p.Phe770Cys)	single nucleotide variant	not specified [RCV004843911]	Chr5:141124307 [GRCh38] Chr5:140503889 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.892G>A (p.Gly298Arg)	single nucleotide variant	not specified [RCV004848095]	Chr5:141122890 [GRCh38] Chr5:140502472 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2195C>T (p.Pro732Leu)	single nucleotide variant	not specified [RCV004848094]	Chr5:141124193 [GRCh38] Chr5:140503775 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1420G>T (p.Ala474Ser)	single nucleotide variant	not specified [RCV004848092]	Chr5:141123418 [GRCh38] Chr5:140503000 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.82G>C (p.Glu28Gln)	single nucleotide variant	not specified [RCV004848093]	Chr5:141122080 [GRCh38] Chr5:140501662 [GRCh37] Chr5:5q31.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	429
Count of miRNA genes:	304
Interacting mature miRNAs:	324
Transcripts:	ENST00000194152
Prediction methods:	Miranda
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357314	AASTH54_H	Allergic/atopic asthma related QTL 54 (human)	3.56	0.0003	Reversible airflow obstruction	total serum IgE	5	135892246	150155845	Human

G65651

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,504,545 - 140,504,968	UniSTS	GRCh37
Build 36	5	140,484,729 - 140,485,152	RGD	NCBI36
Celera	5	136,581,357 - 136,581,780	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	135,649,241 - 135,649,664	UniSTS

RH78811

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,505,017 - 140,505,141	UniSTS	GRCh37
Build 36	5	140,485,201 - 140,485,325	RGD	NCBI36
Celera	5	136,581,829 - 136,581,953	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	135,649,713 - 135,649,837	UniSTS
GeneMap99-GB4 RH Map	5	531.42	UniSTS
NCBI RH Map	5	889.1	UniSTS

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
1204	2361	2788	2228	4961	1705	2302	3	605	992	446	2260	6268	5526	41	3731	1	839	1705	1585	170	1


RefSeq Transcripts	NG_000017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NG_050761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC244517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF152497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF217754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313640	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW135510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC099725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA231000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA409037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000194152 ⟹ ENSP00000194152

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,121,818 - 141,125,623 (+)	Ensembl

Ensembl Acc Id:

ENST00000623478

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,121,818 - 141,124,147 (+)	Ensembl

RefSeq Acc Id:

NM_018938 ⟹ NP_061761

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,121,818 - 141,125,623 (+)	NCBI
GRCh37	5	140,501,581 - 140,505,201 (+)	RGD
Build 36	5	140,481,765 - 140,485,385 (+)	NCBI Archive
Celera	5	136,578,393 - 136,582,013 (+)	RGD
HuRef	5	135,646,028 - 135,649,901 (+)	NCBI
CHM1_1	5	139,934,522 - 139,938,395 (+)	NCBI
T2T-CHM13v2.0	5	141,647,136 - 141,650,941 (+)	NCBI

Sequence:

show sequence

ACACGGAAGAAGCGTTACAAGCAGTGCAGGTTTACCAACGGCTTGGGGCAGCGATATACTAAACAAATTTAATATTAAAAGCAACTGTGTGACGATTCCTCCAAGCAAGAAATTGGAATTGAATGTCT
CAAGTCTCGTTGCGGTTGCTGAGGGGATTGGATATAGGGACCTGGACTCCAACATGAAGAAGCTAGGGAGAATTCATCCAAACAGGCAAGTGTTGGCCTTTATTTTGATGGTGTTCTTGTCTCAGGTT
CGCCTCGAGCCTATTCGTTATTCTGTGTTGGAGGAAACAGAGAGCGGCTCCTTTGTAGCCCATCTGGCCAAGGATCTGGGCCTGGGAATTGGGGAACTGGCCTCCCGGTCAGCCCGGGTGCTGTCTGA
CGATGACAAGCAGCGTTTGCAGCTGGATCGTCAGACTGGAGATTTGCTTCTGAGGGAGAAACTAGACCGGGAAGAGCTCTGTGGTCCTATTGAACCGTGTGTACTGCATTTCCAAGTGTTCCTGGAAA
TGCCGGTGCAATTTTTTCAAGGAGAATTATTGATCCAGGACATAAATGATCACTCTCCAATATTCCCTGAAAGGGAAGTGCTCTTGAAAATACTAGAAAATAGCCAGCCGGGTACTCTATTTCCGTTG
CTAATAGCTGAGGATTTGGATGTGGGCAGCAATGGTCTTCAAAAATACACAATCAGCCCCAATTCTCATTTTCACATTCTCACTCGAAATCATAGTGAGGGCAAGAAATACCCAGATTTGGTGCAGGA
CAAACCACTGGATCGAGAGGAGCAGCCTGAGTTCAGCTTAACCCTCGTGGCGCTGGATGGTGGGTCACCACCTAGGTCTGGCACGGTCATGGTTCGAATCCTGATCATGGACATCAATGACAATGCTC
CTGAGTTTGTGCACACTCCATATGGGGTGCAGGTCCTGGAAAACAGCCCCCTAGACTCTCCAATTGTTAGGGTCTTAGCTAGAGATATAGATGCTGGAAACTTCGGGAGTGTTTCTTATGGCTTATTC
CAAGCATCAGATGAAATTAAACAAACTTTCTCAATAAATGAAGTCACGGGAGAAATACTGTTGAAAAAAAAATTGGATTTCGAAAAAATTAAATCTTACCATGTAGAAATTGAGGCCACAGATGGAGG
AGGCCTTTCTGGAAAAGGCACTGTAGTCATAGAGGTGGTGGATGTGAATGACAATCCCCCAGAACTTATCATATCTTCACTCACCAGCTCCATCCCAGAAAATGCTCCTGAGACGGTAGTCTCTATCT
TCCGAATTCGAGATAGAGATTCCGGAGAAAATGGAAAGATGATTTGCTCTATTCCAGATAATCTACCGTTTATTCTAAAACCAACTTTGAAGAATTTTTACACCCTGGTAACAGAGAGACCACTGGAC
CGAGAGACCAGCGCTGAGTACAACATCACCATCGCCGTCACTGACTTGGGGACACCCAGGCTGAAAACCCAGCAGAACATAACCGTGCAGGTCTCCGACGTCAATGACAACGCCCCCGCCTTCACCCA
AACCTCCTACACCCTGTTCGTCCGCGAGAACAACAGCCCCGCCCTGCACATCGGCAGTGTCAGCGCCACAGACAGAGACTCGGGCACCAACGCCCAGGTCACCTACTCGCTGCTGCCGCCCCAGGACC
CGCACCTGCCCCTCGCCTCCCTGGTCTCCATCAACGCAGACAACGGCCACCTGTTCGCCCTCAGGTCGCTGGACTACGAGGCCCTGCAGGCGTTCGAGTTCCGCGTGGGCGCCTCAGACCGCGGTTCT
CCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTGCTGGTGCTGGACACCAACGACAACTCGCCCTTCGTGCTGTACCCGCTGCAGAATGGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGCGGCCGA
GCCGGGCTACCTGGTGACCAAGGTGGTGGCGGTGGACGGCGACTCGGGCCAGAACGCCTGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCTGGGCTGTTCGGCGTGTGGGCGCACAATGGCGAGG
TGCGCACCGCCAGGCTGCTGAGCGAGCGCGACGCAGCCAAGCACAGGCTCGTGGTGCTTGTCAAGGACAATGGCGAGCCTCCGCGCTCGGCCACCGCCACGCTGCACGTGCTCCTGGTGGATGGCTTC
TCCCAGCCCTACCTGCCTCTCCCTGAGGCGGCCCCGGCCCAGGCCCAGGCCGACTCTCTCACCGTCTACCTGGTGGTGGCGTTGGCCTCGGTGTCGTCGCTCTTCCTCTTCTCGGTGCTCCTGTTCGT
GGCGGTGCGGCTGTGCAGGAGGAGCAGGGCGGCCTCGGTGGGTCGCTGCTCGGTGCCCGAGGGCCCCTTTCCAGGGCATCTGGTGGACGTAAGCGGCACCGGGACCCTGTCCCAGAGCTACCAGTACG
AGGTGTGTCTGACAGGAGACTCTGGGACTGGTGAGTTCAAGTTCCTGAAGCCAATATTTCCTAATCTCTTGGTTCAGGACACCGGGAGGGAAGTTAAGGAAAACCCCAAGTTCAGAAATAGCTTGGTA
TTCAGTTAAGTATTGTATTTAGTTCAGTGAACCGCCCGTTAGTTTTGTCAAACTTCCCACTGCAATGCCTTTATTTAAAAAAATTGTCTACTTATCTAAATATTCATACCACAATTTCAAACCTACTC
ATGTCCCTGATAAAGCTAAATTTGTCCCTTTTTTATTGTTATTAATTGCACTTAACATTTTTAGTTATACTGGATATTGAGTATGGATTTTCTCTATATTTGATCTATTGGTGATTAATCTTTTTGTA
ATCATAAATTACTCAATTAGGATAAAAATAAATTATGTTTTAATGAAATTCTTAAATTAACATCTTTTTAATGGAACATTTAAGTGAATATATGAATATTGAATTTCTAAATATTTGTTGTGCCTGTC
TTTACCATGTAACTTAATGTTTGCAAGGCCAGAGTGTTTGAAAGTTTTGTATTTAACTTTATAATTACCTTGTCCTTTCTGGTTGACTATACTAGGCTAAGCCCTCTTAATAGCCATGAGTGTAAAAT
TTAGTTTACTCATTTTTCACAAATTGTATATAAACATGCACTTCACTACATTGGTAATACACTAAAATTGTGGTCCTTTTCCTCTTGTGACCACCACATGTCTAGTGATTATTTTGTTTATTTGGTTG
CTACTTACCTAGCACATTGTAATGTTCCATGAATGCTAATATTAAATTTTGTAAAAATAACTTATTTATAAATAATTTTTAAAGAGAAAAATCTCATATAATTTGTCATAACCTTTCAATAAATAAAA
CTGTTAAATCATGGCCTGATATCATCTTAAAAAAAAATCTCAGAATCTGAAATAAGCCCTAAATTTCTCCCCAAAATCAAGACTCTTGAGAGCATCATAGGTCTCCTTGTGCTACCTTTTACTCCCTA
TAAATAGAAATCCAAGTATACTTTAATATGTGTATATTTTTTGGTTTTCCTACAGCTTCTCCCCATCTTTCAAAAGAATCACGAAATTTCTTCTGCACCTTGGCTATTCTGTTTAAATCTGATAATCA
GTTGATCTCAGGTTTTTCACTGTACATTACTTTGCAGATATGGACAGCCTTTACAAAAATAATTTTTAAATGCTTAATTATTTTAATTTGTTCTTTAAGGTAACCTTCAGTTATTTTGAATTAATTTA
ACTTCTCAATTATGCCAAAGTTGCACTTGCATGAAATAAATATTATTTTGTCCTTGTATAGACTGGAACAGTAATAAATTTATCTGAATTAAAA

hide sequence


Protein RefSeqs	NP_061761	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD43758	(Get FASTA)	NCBI Sequence Viewer
	AAH98139	(Get FASTA)	NCBI Sequence Viewer
	AAH98346	(Get FASTA)	NCBI Sequence Viewer
	AAK51621	(Get FASTA)	NCBI Sequence Viewer
	BAG36398	(Get FASTA)	NCBI Sequence Viewer
	EAW61980	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000194152
	ENSP00000194152.1
	ENSP00000517186.1
GenBank Protein	Q9Y5E5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_061761 ⟸ NM_018938
- Peptide Label:	precursor
- UniProtKB:	Q4V761 (UniProtKB/Swiss-Prot), Q9Y5E5 (UniProtKB/Swiss-Prot), B2R951 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKKLGRIHPNRQVLAFILMVFLSQVRLEPIRYSVLEETESGSFVAHLAKDLGLGIGELASRSARVLSDDDKQRLQLDRQTGDLLLREKLDREELCGPIEPCVLHFQVFLEMPVQFFQGELLIQDINDH SPIFPEREVLLKILENSQPGTLFPLLIAEDLDVGSNGLQKYTISPNSHFHILTRNHSEGKKYPDLVQDKPLDREEQPEFSLTLVALDGGSPPRSGTVMVRILIMDINDNAPEFVHTPYGVQVLENSPL DSPIVRVLARDIDAGNFGSVSYGLFQASDEIKQTFSINEVTGEILLKKKLDFEKIKSYHVEIEATDGGGLSGKGTVVIEVVDVNDNPPELIISSLTSSIPENAPETVVSIFRIRDRDSGENGKMICSI PDNLPFILKPTLKNFYTLVTERPLDRETSAEYNITIAVTDLGTPRLKTQQNITVQVSDVNDNAPAFTQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPQDPHLPLASLVSINADNGHL FALRSLDYEALQAFEFRVGASDRGSPALSSEALVRVLVLDTNDNSPFVLYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNAWLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKHRLV VLVKDNGEPPRSATATLHVLLVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSLFLFSVLLFVAVRLCRRSRAASVGRCSVPEGPFPGHLVDVSGTGTLSQSYQYEVCLTGDSGTGEFKFLKP IFPNLLVQDTGREVKENPKFRNSLVFS hide sequence

Ensembl Acc Id:

ENSP00000194152 ⟸ ENST00000194152

Protein Domains

Cadherin

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y5E5-F1-model_v2	AlphaFold	Q9Y5E5	1-795	view protein structure

RGD ID:

6870936

Promoter ID:

EPDNEW_H8632

Type:

initiation region

Name:

PCDHB4_1

Description:

protocadherin beta 4

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,121,818 - 141,121,878	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PCDHB4	COSMIC
Ensembl Genes	ENSG00000081818	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000291676	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000194152	ENTREZGENE
	ENST00000194152.4	UniProtKB/Swiss-Prot
	ENST00000708352.1	UniProtKB/Swiss-Prot
Gene3D-CATH	Cadherins	UniProtKB/Swiss-Prot
GTEx	ENSG00000081818	GTEx
	ENSG00000291676	GTEx
HGNC ID	HGNC:8689	ENTREZGENE
Human Proteome Map	PCDHB4	Human Proteome Map
InterPro	Cadherin-like_dom	UniProtKB/Swiss-Prot
	Cadherin-like_sf	UniProtKB/Swiss-Prot
	Cadherin_C	UniProtKB/Swiss-Prot
	Cadherin_CS	UniProtKB/Swiss-Prot
	Cadherin_N	UniProtKB/Swiss-Prot
	Protocadherin/Cadherin-CA	UniProtKB/Swiss-Prot
KEGG Report	hsa:56131	UniProtKB/Swiss-Prot
NCBI Gene	56131	ENTREZGENE
OMIM	606330	OMIM
PANTHER	CADHERIN-87A	UniProtKB/Swiss-Prot
	PTHR24028:SF55	UniProtKB/Swiss-Prot
Pfam	Cadherin	UniProtKB/Swiss-Prot
	Cadherin_2	UniProtKB/Swiss-Prot
	Cadherin_C_2	UniProtKB/Swiss-Prot
PharmGKB	PA33038	PharmGKB
PRINTS	CADHERIN	UniProtKB/Swiss-Prot
PROSITE	CADHERIN_1	UniProtKB/Swiss-Prot
	CADHERIN_2	UniProtKB/Swiss-Prot
RNAcentral	URS00027E62ED	RNACentral
SMART	SM00112	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF49313	UniProtKB/Swiss-Prot
UniProt	B2R951	ENTREZGENE, UniProtKB/TrEMBL
	PCDB4_HUMAN	UniProtKB/Swiss-Prot
	Q4V761	ENTREZGENE
	Q9Y5E5	ENTREZGENE
UniProt Secondary	Q4V761	UniProtKB/Swiss-Prot

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


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


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

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

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar