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 CNOT6L

Gene summary

Basic gene Info.	Gene symbol	CNOT6L
	Gene name	CCR4-NOT transcription complex, subunit 6-like
	Synonyms	CCR4b
	Cytomap	UCSC genome browser: 4q13.3
	Type of gene	protein-coding
	RefGenes	NM_001286790.1, NM_144571.2,
	Description	CCR4-NOT transcription complex subunit 6-likecarbon catabolite repressor protein 4 homolog B
	Modification date	20141207
dbXrefs	HGNC : HGNC
	Ensembl : ENSG00000138767
	HPRD : 10841
	Vega : OTTHUMG00000160832
Protein	UniProt: Q96LI5 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CNOT6L
	BioGPS: 246175
Pathway	NCI Pathway Interaction Database: CNOT6L
	KEGG: CNOT6L
	REACTOME: CNOT6L
	Pathway Commons: CNOT6L
Context	iHOP: CNOT6L
	ligand binding site mutation search in PubMed: CNOT6L
	UCL Cancer Institute: CNOT6L
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

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Ligand binding site mutations for CNOT6L

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
K371	D369N	HNSC	1
E240	L238P	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 CNOT6L

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
E240	L238P	-0.85439174
K371	D369N	-0.6258627

(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 CNOT6L from PDB

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Differential gene expression and gene-gene network for CNOT6L

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 CNOT6L and the right PPI network was created from samples without mutations in the LBS of CNOT6L. 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 CNOT6L

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 CNOT6L

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 CNOT6L go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
NUC		Nucleic Acids	3ngo	A	E240
AMP		AMP	3ngn	A	E240 K371
1PS		PPS	3ngq	A	K371

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Conservation information for LBS of CNOT6L

Multiple alignments for Q96LI5 in multiple species

LBS	AA sequence	# species	Species
D410	LVLCADLNSLP	2	Homo sapiens, Mus musculus
D410	VLICGDFNSYI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D410	MVICGDFNSQL	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D410	LVICGDFNSQL	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D410	ILICGDFNSVQ	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D410	IVLCADLNSLP	1	Danio rerio
E240	IISLQEVETEQ	3	Homo sapiens, Danio rerio, Mus musculus
E240	LLCLQEVESKT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E240	VICLQEVETLT	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E240	IICLQEVESKT	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E240	IICLQEVDVEN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E276	IMSEQERKHVD	2	Homo sapiens, Mus musculus
E276	TMHSKDSKKVD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E276	TMHAKDSKKVD	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E276	TMQSKDAKKVD	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E276	TMNEVERRIVD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E276	LVSEQERKHVD	1	Danio rerio
F484	NYTFDFKGVID	2	Homo sapiens, Mus musculus
F484	NFTPSFTDVID	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F484	NMTPSFTDVID	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F484	NLSPTFTDVID	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F484	NYTPGFKGAID	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F484	NYTYDFKGVID	1	Danio rerio
H360	IVANAHMHWDP	2	Homo sapiens, Mus musculus
H360	WVVTTHLHWDP	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)
H360	WAVTTHLHWDP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H360	IVANCHIHWDP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H360	LVANAHMHWDP	1	Danio rerio
H529	HIPSDHFSLLT	2	Homo sapiens, Mus musculus
H529	KFPSDHIPLLA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H529	KFPSDHIPLVT	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H529	KIPSDHIPLLA	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H529	HFPSDHICLLA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H529	HIPSDHFSLLA	1	Danio rerio
I271	KSRAKIMSEQE	2	Homo sapiens, Mus musculus
I271	KARAKTMHSKD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I271	KTRAKTMHAKD	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
I271	KTRARTMQSKD	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I271	KSRVRTMNEVE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I271	KSRAKLVSEQE	1	Danio rerio
I488	DFKGVIDYIFY	2	Homo sapiens, Mus musculus
I488	SFTDVIDYIWF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I488	SFTDVIDYIWY	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
I488	TFTDVIDYIWY	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I488	GFKGAIDHIWY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I488	DFKGVIDYIFF	1	Danio rerio
K371	EYSDVKLIQTM	3	Homo sapiens, Danio rerio, Mus musculus
K371	KFNDVKTFQVG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K371	QFNDVKTFQVG	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K371	HFNDVKTFQVA	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K371	QFRDVKVIQVA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M272	SRAKIMSEQER	2	Homo sapiens, Mus musculus
M272	ARAKTMHSKDS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M272	TRAKTMHAKDS	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
M272	TRARTMQSKDA	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
M272	SRVRTMNEVER	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M272	SRAKLVSEQER	1	Danio rerio
N412	LCADLNSLPDS	3	Homo sapiens, Danio rerio, Mus musculus
N412	ICGDFNSQLDS	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)
N412	ICGDFNSYINS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N412	ICGDFNSVQGS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N479	LMPYTNYTFDF	2	Homo sapiens, Mus musculus
N479	ELPFTNFTPSF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N479	ELPFTNMTPSF	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
N479	ELPFTNLSPTF	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N479	ALSFTNYTPGF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N479	LMPYTNYTYDF	1	Danio rerio
P365	HMHWDPEYSDV	3	Homo sapiens, Danio rerio, Mus musculus
P365	HLHWDPKFNDV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P365	HLHWDPQFNDV	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
P365	HLHWDPHFNDV	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
P365	HIHWDPQFRDV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S273	RAKIMSEQERK	2	Homo sapiens, Mus musculus
S273	RAKTMHSKDSK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S273	RAKTMHAKDSK	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S273	RARTMQSKDAK	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S273	RVRTMNEVERR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S273	RAKLVSEQERK	1	Danio rerio
W363	NAHMHWDPEYS	3	Homo sapiens, Danio rerio, Mus musculus
W363	TTHLHWDPKFN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W363	TTHLHWDPQFN	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
W363	TTHLHWDPHFN	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
W363	NCHIHWDPQFR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y201	VLCDKYATRQL	3	Homo sapiens, Danio rerio, Mus musculus
Y201	TLCQHYATPKM	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Y201	TLCHHYATPKM	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Y201	VLCERYATSTL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)