EuRBPDB

Basic Information
Cancer Related Information

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000100504 (Gene tree)
Gene ID: 5836
Gene Symbol: PYGL
Alias: N
Full Name: glycogen phosphorylase L
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 86,846 bases
Position: chr14:50,857,891-50,944,736
Accession: 9725
RBP type: non-canonical RBP
Summary: This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
29431736	Capturing the interactome of newly transcribed RNA	NascentRICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000216392	PYGL-201	3048	-	ENSP00000216392	847 (aa)	-	P06737
ENST00000544180	PYGL-206	2696	-	ENSP00000443787	813 (aa)	-	P06737
ENST00000532107	PYGL-204	681	-	-	- (aa)	-	-
ENST00000530336	PYGL-203	1459	-	-	- (aa)	-	-
ENST00000532462	PYGL-205	2711	-	ENSP00000431657	819 (aa)	-	E9PK47
ENST00000528757	PYGL-202	426	-	-	- (aa)	-	-
ENST00000553872	PYGL-207	746	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000100504's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa00500	Starch and sucrose metabolism	KEGG
hsa01100	Metabolic pathways	KEGG
hsa04217	Necroptosis	KEGG
hsa04910	Insulin signaling pathway	KEGG
hsa04922	Glucagon signaling pathway	KEGG
hsa04931	Insulin resistance	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000100504	Leukoaraiosis	3.9049678E-006	-
ENSG00000100504	Platelet Function Tests	9.4100000E-006	-
ENSG00000100504	Precursor Cell Lymphoblastic Leukemia-Lymphoma	7E-9	23007406

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000100504	rs35026927	14	50911799	G	Blood protein levels	29875488	[0.82-1.4] unit decrease	1.11	EFO_0007937
ENSG00000100504	rs7142143	14	50936813	C	Acute lymphoblastic leukemia (childhood)	23007406	[2.34-5.57]	3.61	EFO_0000220
ENSG00000100504	rs1953884	14	50859448	?	Polychlorinated biphenyl levels	25839716	[0.15-0.35] unit increase	0.25	EFO_0007042

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000100504's network

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000100504	PYGL	98	72.804	FBgn0004507	GlyP	98	72.804	Drosophila_melanogaster
ENSG00000100504	PYGL	99	81.883	ENSG00000100994	PYGB	99	81.883	Homo_sapiens
ENSG00000100504	PYGL	99	80.357	ENSMUSG00000032648	Pygm	99	81.928	Mus_musculus
ENSG00000100504	PYGL	99	81.049	ENSMUSG00000033059	Pygb	99	81.049	Mus_musculus
ENSG00000100504	PYGL	95	49.291	YPR160W		93	49.291	Saccharomyces_cerevisiae

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0002060	purine nucleobase binding	12204691.	IDA	Function
GO:0005515	protein binding	25416956.25910212.	IPI	Function
GO:0005524	ATP binding	10949035.	IDA	Function
GO:0005536	glucose binding	12204691.	NAS	Function
GO:0005576	extracellular region	-	TAS	Component
GO:0005737	cytoplasm	21873635.	IBA	Component
GO:0005829	cytosol	-	TAS	Component
GO:0005977	glycogen metabolic process	10980448.17705025.	IMP	Process
GO:0005980	glycogen catabolic process	21873635.	IBA	Process
GO:0005980	glycogen catabolic process	-	TAS	Process
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process	-	IEA	Process
GO:0008144	drug binding	10980448.12204691.	IDA	Function
GO:0008184	glycogen phosphorylase activity	21873635.	IBA	Function
GO:0008184	glycogen phosphorylase activity	22225877.	IDA	Function
GO:0008184	glycogen phosphorylase activity	9529348.10980448.17705025.	IMP	Function
GO:0009617	response to bacterium	-	IEA	Process
GO:0016208	AMP binding	10949035.10980448.	IDA	Function
GO:0019842	vitamin binding	12204691.	IDA	Function
GO:0030170	pyridoxal phosphate binding	21873635.	IBA	Function
GO:0032052	bile acid binding	12204691.	IDA	Function
GO:0034774	secretory granule lumen	-	TAS	Component
GO:0042593	glucose homeostasis	17705025.	IMP	Process
GO:0042803	protein homodimerization activity	17705025.	NAS	Function
GO:0043312	neutrophil degranulation	-	TAS	Process
GO:0070062	extracellular exosome	23533145.	HDA	Component
GO:0070266	necroptotic process	-	IEA	Process
GO:0102250	linear malto-oligosaccharide phosphorylase activity	-	IEA	Function
GO:0102499	SHG alpha-glucan phosphorylase activity	-	IEA	Function
GO:1904813	ficolin-1-rich granule lumen	-	TAS	Component

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr14	50916724	Missense_Mutation	novel	Q337R	0.19
BLCA	chr14	50915442	Missense_Mutation	novel	E433K	0.38
BLCA	chr14	50911755	Silent	novel	N648N	0.21
BLCA	chr14	50912166	Silent	rs755485474	T586T	0.24
BLCA	chr14	50944323	Missense_Mutation	NA	E27D	0.11
BRCA	chr14	50937803	Missense_Mutation	novel	G93D	0.11
BRCA	chr14	50909900	Missense_Mutation	NA	K724N	0.38
BRCA	chr14	50913061	Missense_Mutation	novel	V530I	0.27
BRCA	chr14	50931692	Missense_Mutation	NA	K170T	0.45
BRCA	chr14	50923957	Intron	novel		0.39
CESC	chr14	50937790	Silent	NA	Q97Q	0.18
CESC	chr14	50915406	Missense_Mutation	novel	L445I	0.27
CESC	chr14	50917088	Missense_Mutation	novel	E291D	0.13
CESC	chr14	50913158	Intron	NA		0.4
CESC	chr14	50944337	Missense_Mutation	NA	E23Q	0.32
COAD	chr14	50944185	Silent	rs755663173	Q73Q	0.23
COAD	chr14	50944269	Silent	rs539740389	N45N	0.35
COAD	chr14	50912003	Missense_Mutation	NA	P601L	0.38
COAD	chr14	50911797	Silent	NA	D634D	0.35
COAD	chr14	50915350	Silent	rs199688614	I463I	0.28
COAD	chr14	50916675	Missense_Mutation	novel	I353M	0.06
COAD	chr14	50912248	Missense_Mutation	novel	N559S	0.43
COAD	chr14	50917011	Missense_Mutation	novel	F317S	0.4
COAD	chr14	50915429	Missense_Mutation	NA	S437N	0.22
COAD	chr14	50915944	Missense_Mutation	rs11541446	A374T	0.32
COAD	chr14	50905311	3'UTR	novel		0.15
COAD	chr14	50923944	Intron	novel		0.35
COAD	chr14	50905455	Silent	rs755274555	N827N	0.16
COAD	chr14	50911856	Missense_Mutation	NA	H615Y	0.42
COAD	chr14	50944161	Missense_Mutation	novel	K81N	0.32
COAD	chr14	50910044	Frame_Shift_Del	rs772998983	*T677Qfs4**	0.33
COAD	chr14	50912224	Missense_Mutation	rs753383533	Q567R	0.23
COAD	chr14	50905329	3'UTR	novel		0.41
COAD	chr14	50905500	Silent	NA	F812F	0.22
COAD	chr14	50913062	Silent	NA	D529D	0.36
COAD	chr14	50911742	Missense_Mutation	novel	L653F	0.08
DLBC	chr14	50911755	Silent	novel	N648N	0.26
ESCA	chr14	50921001	Missense_Mutation	NA	R243C	0.42
GBM	chr14	50913062	Silent	NA	D529D	0.25
GBM	chr14	50911825	Missense_Mutation	novel	T625N	0.04
GBM	chr14	50913027	Splice_Site	novel	X540_splice	0.39
GBM	chr14	50914812	Silent	novel	F469F	0.28
GBM	chr14	50915412	Missense_Mutation	novel	A443S	0.05
GBM	chr14	50915835	Missense_Mutation	novel	K410M	0.06
GBM	chr14	50921000	Missense_Mutation	NA	R243H	0.34
GBM	chr14	50905368	3'UTR	novel		0.11
HNSC	chr14	50908315	Nonsense_Mutation	novel	E779*	0.25
HNSC	chr14	50924091	Missense_Mutation	novel	A180P	0.13
HNSC	chr14	50944317	Silent	novel	K29K	0.31
HNSC	chr14	50914799	Missense_Mutation	novel	E474K	0.29
HNSC	chr14	50915442	Missense_Mutation	novel	E433K	0.35
HNSC	chr14	50915951	Silent	novel	K371K	0.27
HNSC	chr14	50944325	Missense_Mutation	rs376771385	E27Q	0.12
HNSC	chr14	50914748	Missense_Mutation	novel	R491S	0.23
HNSC	chr14	50921046	Missense_Mutation	novel	D228Y	0.15
KIRC	chr14	50924046	Missense_Mutation	NA	P195S	0.04
KIRP	chr14	50921031	Missense_Mutation	rs749922511	G233S	0.59
LGG	chr14	50911868	Missense_Mutation	novel	A611T	0.39
LGG	chr14	50915967	Nonsense_Mutation	novel	W366*	0.44
LGG	chr14	50908288	Missense_Mutation	novel	V788L	0.07
LGG	chr14	50920561	Missense_Mutation	novel	V279I	0.43
LIHC	chr14	50905199	3'Flank	novel		0.15
LIHC	chr14	50924048	Missense_Mutation	rs758005615	R194L	0.31
LUAD	chr14	50916996	Missense_Mutation	NA	G322V	0.2
LUAD	chr14	50923856	Intron	novel		0.29
LUAD	chr14	50923953	Intron	novel		0.08
LUAD	chr14	50911862	Missense_Mutation	NA	G613R	0.29
LUAD	chr14	50909989	Missense_Mutation	novel	G695R	0.33
LUAD	chr14	50911817	Missense_Mutation	NA	A628S	0.35
LUAD	chr14	50912245	Missense_Mutation	novel	P560R	0.56
LUAD	chr14	50917038	Missense_Mutation	NA	I308T	0.2
LUSC	chr14	50911783	Missense_Mutation	novel	S639N	0.15
LUSC	chr14	50944398	Missense_Mutation	novel		0.55
LUSC	chr14	50912274	Silent	NA	L550L	0.38
LUSC	chr14	50944314	Missense_Mutation	novel	K30N	0.16
LUSC	chr14	50905547	Missense_Mutation	novel	A797S	0.47
LUSC	chr14	50944243	Missense_Mutation	novel	F54C	0.07
LUSC	chr14	50913105	Missense_Mutation	novel	D515G	0.25
LUSC	chr14	50931691	Missense_Mutation	NA	K170N	0.11
LUSC	chr14	50908826	Silent	rs374252511	H769H	0.1
LUSC	chr14	50931687	Nonsense_Mutation	NA	R172*	0.31
LUSC	chr14	50910039	Missense_Mutation	novel	G678V	0.34
LUSC	chr14	50908910	Silent	novel	L741L	0.19
LUSC	chr14	50935128	Missense_Mutation	rs746697171	G135S	0.15
LUSC	chr14	50915389	Silent	novel	S450S	0.19
LUSC	chr14	50931677	Missense_Mutation	NA	W175L	0.27
LUSC	chr14	50911999	Missense_Mutation	novel	R602S	0.23
MESO	chr14	50944485	5'UTR	novel		0.16
OV	chr14	50920967	Missense_Mutation	novel	N254I	0.07
OV	chr14	50920588	Missense_Mutation	novel	R270G	0.47
OV	chr14	50913061	Missense_Mutation	novel	V530L	0.09
OV	chr14	50921049	Splice_Site	novel	X221_splice	0.03
OV	chr14	50920587	Missense_Mutation	rs755488866	R270Q	0.05
OV	chr14	50912222	Missense_Mutation	novel	V568M	0.14
OV	chr14	50913119	Missense_Mutation	novel	E510D	0.06
PAAD	chr14	50921001	Missense_Mutation	NA	R243C	0.05
PAAD	chr14	50912166	Silent	rs755485474	T586T	0.2
PAAD	chr14	50912277	Silent	novel	F549F	0.15
PAAD	chr14	50915350	Silent	rs199688614	I463I	0.19
PRAD	chr14	50905510	Missense_Mutation	rs760187622	S809L	0.11
PRAD	chr14	50905510	Missense_Mutation	rs760187622	S809L	0.4
READ	chr14	50908878	Missense_Mutation	NA	S752Y	0.16
READ	chr14	50912008	Silent	NA	F599F	0.29
READ	chr14	50944337	Missense_Mutation	NA	E23Q	0.55
READ	chr14	50911765	Frame_Shift_Del	NA	*F645Sfs36**	0.23
READ	chr14	50908328	Silent	novel	V774V	0.06
SARC	chr14	50914746	Silent	novel	R491R	0.09
SKCM	chr14	50915481	Missense_Mutation	NA	P420S	0.34
SKCM	chr14	50905474	Missense_Mutation	NA	Y821F	0.22
SKCM	chr14	50913050	Silent	NA	R533R	0.26
SKCM	chr14	50912214	Missense_Mutation	rs763742821	R570S	0.06
SKCM	chr14	50908924	Missense_Mutation	rs759925909	P737S	0.24
SKCM	chr14	50909942	Silent	NA	F710F	0.28
SKCM	chr14	50913053	Silent	NA	L532L	0.3
SKCM	chr14	50915350	Silent	rs199688614	I463I	0.09
SKCM	chr14	50915491	Silent	NA	V416V	0.27
SKCM	chr14	50915945	Silent	rs151022264	F373F	0.16
SKCM	chr14	50916699	Silent	rs139544303	L345L	0.35
SKCM	chr14	50915436	Missense_Mutation	NA	E435K	0.94
SKCM	chr14	50924069	Missense_Mutation	NA	G187E	0.06
SKCM	chr14	50915872	Missense_Mutation	novel	P398S	0.11
SKCM	chr14	50915873	Silent	novel	L397L	0.11
SKCM	chr14	50909993	Missense_Mutation	novel	M693I	0.37
SKCM	chr14	50931681	Missense_Mutation	NA	G174R	0.18
SKCM	chr14	50931686	Missense_Mutation	novel	R172Q	0.44
SKCM	chr14	50931707	Missense_Mutation	NA	G165E	0.45
SKCM	chr14	50916729	Silent	novel	A335A	0.55
SKCM	chr14	50910054	Frame_Shift_Ins	novel	*E673Gfs46**	0.37
SKCM	chr14	50915350	Silent	rs199688614	I463I	0.27
SKCM	chr14	50912008	Silent	NA	F599F	0.16
SKCM	chr14	50916708	Silent	NA	H342H	0.28
SKCM	chr14	50917005	Missense_Mutation	NA	S319F	0.26
SKCM	chr14	50915917	Missense_Mutation	NA	E383K	0.08
SKCM	chr14	50931680	Missense_Mutation	NA	G174E	0.28
SKCM	chr14	50924050	Silent	NA	S193S	0.31
STAD	chr14	50908879	Missense_Mutation	NA	S752P	0.21
STAD	chr14	50917036	Missense_Mutation	novel	I309V	0.32
STAD	chr14	50921001	Missense_Mutation	NA	R243C	0.26
STAD	chr14	50910089	Silent	NA	T661T	0.13
STAD	chr14	50914709	Missense_Mutation	NA	I504V	0.51
STAD	chr14	50944205	Missense_Mutation	NA	R67C	0.25
STAD	chr14	50916704	Missense_Mutation	NA	A344T	0.24
STAD	chr14	50915465	Missense_Mutation	rs2228499	R425H	0.21
STAD	chr14	50908904	Frame_Shift_Del	novel	*I743Mfs46**	0.2
STAD	chr14	50935158	Nonsense_Mutation	NA	E125*	0.39
STAD	chr14	50917107	Splice_Site	NA	X286_splice	0.13
STAD	chr14	50944399	Missense_Mutation	NA	A2V	0.24
STAD	chr14	50916672	Silent	NA	F354F	0.15
STAD	chr14	50915918	Silent	novel	P382P	0.45
UCEC	chr14	50914812	Missense_Mutation	NA	F469L	0.39
UCEC	chr14	50912202	Silent	novel	Y574Y	0.26
UCEC	chr14	50905528	Missense_Mutation	NA	L803R	0.37
UCEC	chr14	50905431	Silent	novel	I835I	0.39
UCEC	chr14	50917103	Missense_Mutation	novel	F286L	0.15
UCEC	chr14	50944173	In_Frame_Del	novel	D77del	0.5
UCEC	chr14	50912008	Silent	NA	F599F	0.28
UCEC	chr14	50913090	Missense_Mutation	rs536165697	T520M	0.48
UCEC	chr14	50944199	Missense_Mutation	NA	I69F	0.11
UCEC	chr14	50905457	Missense_Mutation	NA	N827D	0.47
UCEC	chr14	50913096	Missense_Mutation	NA	Q518R	0.27
UCEC	chr14	50910077	Silent	rs148777213	E665E	0.22
UCEC	chr14	50914748	Missense_Mutation	rs113993980	R491C	0.18
UCEC	chr14	50909924	Missense_Mutation	NA	I716M	0.3
UCEC	chr14	50912015	Missense_Mutation	novel	K597T	0.28
UCEC	chr14	50912038	Splice_Site	novel	X590_splice	0.64
UCEC	chr14	50908943	Frame_Shift_Del	novel	*E731Nfs9**	0.35
UCEC	chr14	50905365	3'UTR	novel		0.43
UCEC	chr14	50912023	Silent	novel	D594D	0.29
UCEC	chr14	50908316	Silent	rs754681161	Y778Y	0.42
UCEC	chr14	50916672	Frame_Shift_Del	novel	*F354Lfs54**	0.36
UCEC	chr14	50910068	Silent	NA	S668S	0.56
UCEC	chr14	50914791	Silent	novel	E476E	0.3
UCEC	chr14	50915973	Splice_Site	novel	X365_splice	0.23
UCEC	chr14	50931765	Missense_Mutation	novel	D146Y	0.35
UCEC	chr14	50909947	Missense_Mutation	novel	L709M	0.1
UCEC	chr14	50912198	Nonsense_Mutation	rs774646420	R576*	0.33
UCEC	chr14	50944173	In_Frame_Del	novel	D77del	0.07
UCEC	chr14	50905391	3'UTR	novel		0.15
UCEC	chr14	50914747	Missense_Mutation	rs150701003	R491H	0.26
UCEC	chr14	50915395	Silent	rs746971247	V448V	0.34
UCEC	chr14	50944394	Missense_Mutation	novel	P4S	0.31
UCEC	chr14	50923889	Intron	novel		0.15
UCEC	chr14	50913128	Splice_Region	rs767347248	K507K	0.34
UCEC	chr14	50917101	Missense_Mutation	novel	F287S	0.11
UCEC	chr14	50905251	3'UTR	novel		0.32
UCEC	chr14	50905325	3'UTR	novel		0.39
UCEC	chr14	50937814	Missense_Mutation	NA	E89D	0.29
UCEC	chr14	50908925	Silent	novel	L736L	0.04
UCEC	chr14	50912156	Missense_Mutation	rs562250944	R590C	0.36
UCEC	chr14	50905335	3'UTR	novel		0.3

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
ACC	DEL	0.1444	0.19769
CHOL	DEL	0.3611	0.00040262
KIRP	DEL	0.1563	0.085174
MESO	DEL	0.3793	0.088547
PAAD	DEL	0.0598	0.11332

Survival Analysis

Cancer	P-value	Q-value
STAD	0.016	Kaplan-Meier Survival Analysis
UCS	0.0041	Kaplan-Meier Survival Analysis
HNSC	0.0068	Kaplan-Meier Survival Analysis
PRAD	0.02	Kaplan-Meier Survival Analysis
ESCA	0.015	Kaplan-Meier Survival Analysis
PAAD	0.00056	Kaplan-Meier Survival Analysis
BLCA	0.0012	Kaplan-Meier Survival Analysis
CESC	0.00066	Kaplan-Meier Survival Analysis
LUAD	0.0024	Kaplan-Meier Survival Analysis
OV	0.018	Kaplan-Meier Survival Analysis

Drugs

EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742