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 PACSIN1
Gene summary
Basic gene Info.Gene symbolPACSIN1
Gene nameprotein kinase C and casein kinase substrate in neurons 1
SynonymsSDPI
CytomapUCSC genome browser: 6p21.3
Type of geneprotein-coding
RefGenesNM_001199583.2,
NM_020804.4,
Descriptionprotein kinase C and casein kinase substrate in neurons protein 1syndapin 1syndapin Isyndapin-1
Modification date20141207
dbXrefs MIM : 606512
HGNC : HGNC
Ensembl : ENSG00000124507
HPRD : 05936
Vega : OTTHUMG00000014547
ProteinUniProt: Q9BY11
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PACSIN1
BioGPS: 29993
PathwayNCI Pathway Interaction Database: PACSIN1
KEGG: PACSIN1
REACTOME: PACSIN1
Pathway Commons: PACSIN1
ContextiHOP: PACSIN1
ligand binding site mutation search in PubMed: PACSIN1
UCL Cancer Institute: PACSIN1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0097320membrane tubulation19549836


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Ligand binding site mutations for PACSIN1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
P75P75QLUAD1
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 PACSIN1
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.
LBSAAchange of nsSNVRelative stability change
P75P75Q-0.9033563
(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 PACSIN1 from PDB

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Differential gene expression and gene-gene network for PACSIN1
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 PACSIN1 and the right PPI network was created from samples without mutations in the LBS of PACSIN1. 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 PACSIN1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for PACSIN1
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PACSIN1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)3q84MP75
CACALCIUM(2+)3q84NP75
CACALCIUM(2+)3qniAP75


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Conservation information for LBS of PACSIN1
Multiple alignments for Q9BY11 in multiple species
LBSAA sequence# speciesSpecies
E72WRQLIEKGPQY3Homo sapiens, Mus musculus, Rattus norvegicus
E72WRQLVERGPQY1Danio rerio
E72WRQLLEKGPQY1Bos taurus
E81QYGSLERAWGA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E81QYGTLERAWLA1Danio rerio
G74QLIEKGPQYGS3Homo sapiens, Mus musculus, Rattus norvegicus
G74QLVERGPQYGT1Danio rerio
G74QLLEKGPQYGS1Bos taurus
I71RWRQLIEKGPQ3Homo sapiens, Mus musculus, Rattus norvegicus
I71RWRQLVERGPQ1Danio rerio
I71RWRQLLEKGPQ1Bos taurus
P75LIEKGPQYGSL3Homo sapiens, Mus musculus, Rattus norvegicus
P75LVERGPQYGTL1Danio rerio
P75LLEKGPQYGSL1Bos taurus
Q76IEKGPQYGSLE3Homo sapiens, Mus musculus, Rattus norvegicus
Q76VERGPQYGTLE1Danio rerio
Q76LEKGPQYGSLE1Bos taurus
Y77EKGPQYGSLER4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y77ERGPQYGTLER1Danio rerio


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