mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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	Gene Summary
	Ligand Binding Site Mutation Information
	Protein Structure Related Information
	Gene Expression and Gene-Gene Network
	Phenotype Information
	Pharmacological Information
	Conservation Information for LBS

Gene summary for SSU72

Gene summary

Basic gene Info.	Gene symbol	SSU72
	Gene name	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)
	Synonyms	HSPC182\|PNAS-120
	Cytomap	UCSC genome browser: 1p36.33
	Type of gene	protein-coding
	RefGenes	NM_014188.2,
	Description	CTD phosphatase SSU72RNA polymerase II subunit A C-terminal domain phosphatase SSU72
	Modification date	20141218
dbXrefs	HGNC : HGNC
	Ensembl : ENSG00000160075
	HPRD : 13712
	Vega : OTTHUMG00000000576
Protein	UniProt: Q9NP77 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_SSU72
	BioGPS: 29101
Pathway	NCI Pathway Interaction Database: SSU72
	KEGG: SSU72
	REACTOME: SSU72
	Pathway Commons: SSU72
Context	iHOP: SSU72
	ligand binding site mutation search in PubMed: SSU72
	UCL Cancer Institute: SSU72
Assigned class in mutLBSgeneDB	C: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID	GO Term	PubMed ID
GO:0070940	dephosphorylation of RNA polymerase II C-terminal domain	20861839

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Ligand binding site mutations for SSU72

Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)

: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
K43	V42A	COAD	1
A48	A48D	LUAD	1
G46	G46E	LUAD	1
N15	N15K	SKCM	1

cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

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Protein structure related information for SSU72

Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
(ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)

: nsSNV at non-LBS

: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.

LBS	AAchange of nsSNV	Relative stability change
K43	V42A	-0.89806906
N15	N15K	-0.72342042
G46	G46E	-0.49585087
A48	A48D	-0.32899556

(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for SSU72 from PDB

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Differential gene expression and gene-gene network for SSU72

Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)

* Left PPI network was created from samples with mutations in the LBS of SSU72 and the right PPI network was created from samples without mutations in the LBS of SSU72. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

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Phenotype information for SSU72

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for SSU72

Drug information targeting mutLBSgene (Approved drugs only)

Drug status

DrugBank ID

Name

Type

Drug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SSU72 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
III		Peptide ligand (PRO,THR,SER,PRO,SER,TYR,SER,PRO)	4h3h	E	N15 K43
III		Peptide ligand (PRO,THR,SER,PRO,SER,TYR)	3o2q	E	N15 K43 G46 A48
III		Peptide ligand (SER,PRO,THR,SER,PRO,SER,TYR)	4h3k	E	N15 K43 G46 A48

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Conservation information for LBS of SSU72

Multiple alignments for Q9NP77 in multiple species

LBS	AA sequence	# species	Species
A48	KLPGPAPDKPN	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
A48	RLPGLSIDKPN	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A48	RLPGPSITQPN	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
A48	RLPGPSIDKPN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D143	NVDIQDNHEEA	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
D143	NIDIKDDNENA	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D143	NVDIKDDDENA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D143	NLDIRDDNENA	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D143	NIDIKDNHEEA	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
D143	NVDIKDNHEEA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G46	HVKLPGPAPDK	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
G46	AVRLPGLSIDK	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G46	LVRLPGPSITQ	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G46	AVRLPGPSIDK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H145	DIQDNHEEATL	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
H145	DIKDNHEEASV	2	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H145	DIKDDNENAKI	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H145	DIKDDDENAKI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H145	DIRDDNENAKI	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K43	TGTHVKLPGPA	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
K43	TGSAVRLPGLS	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K43	TGSLVRLPGPS	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K43	TGSAVRLPGPS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L44	GTHVKLPGPAP	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
L44	GSAVRLPGLSI	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L44	GSLVRLPGPSI	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L44	GSAVRLPGPSI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M84	NGILHMLDRNK	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
M84	NGVLEMLDRNR	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
M84	NGLLQMLDRNR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M84	NGLLEMLDRNR	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
M84	NGLLNMLGRNR	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
M84	NGLLKMLDRNR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N144	VDIQDNHEEAT	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
N144	IDIKDDNENAK	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
N144	VDIKDDDENAK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N144	LDIRDDNENAK	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N144	IDIKDNHEEAS	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
N144	VDIKDNHEEAS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N15	VVCSSNQNRSM	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
N15	TVCASNNNRSM	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N15	TVCASNQNRSM	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
N15	VICASNQNRSM	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N17	CSSNQNRSMEA	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
N17	CASNNNRSMES	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N17	CASNQNRSMEG	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
N17	CASNQNRSMEA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P45	THVKLPGPAPD	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
P45	SAVRLPGLSID	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
P45	SLVRLPGPSIT	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
P45	SAVRLPGPSID	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P47	VKLPGPAPDKP	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
P47	VRLPGLSIDKP	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
P47	VRLPGPSITQP	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
P47	VRLPGPSIDKP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P49	LPGPAPDKPNV	5	Homo sapiens, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
P49	LPGLSIDKPNV	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
P49	LPGPAPDKPNI	1	Danio rerio
P49	LPGPSITQPNV	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
P49	LPGPSIDKPNI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P52	PAPDKPNVYDF	5	Homo sapiens, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
P52	LSIDKPNVYSF	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P52	PAPDKPNIYDF	1	Danio rerio
P52	LSIDKPNVYPF	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
P52	PSITQPNVYKF	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
P52	PSIDKPNIYQF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q16	VCSSNQNRSME	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
Q16	VCASNNNRSME	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Q16	VCASNQNRSME	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Q16	ICASNQNRSME	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R114	LTCEERVYDQV	5	Homo sapiens, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
R114	FTCEERCFDSV	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R114	ITCEERVYDQV	1	Danio rerio
R114	FTCEERCFDAV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R114	ITCEERCWDAV	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R114	ITCEERCYDAI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R18	SSNQNRSMEAH	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
R18	ASNNNRSMESH	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R18	ASNQNRSMEGH	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R18	ASNQNRSMEAH	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S13	VAVVCSSNQNR	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
S13	FCTVCASNNNR	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S13	LCTVCASNNNR	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S13	FCTVCASNQNR	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S13	ISVICASNQNR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S14	AVVCSSNQNRS	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
S14	CTVCASNNNRS	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S14	CTVCASNQNRS	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S14	SVICASNQNRS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T40	SFGTGTHVKLP	6	Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Rattus norvegicus, Bos taurus
T40	SYGTGSAVRLP	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T40	SFGTGSLVRLP	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T40	SFGTGSAVRLP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)