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 AIFM1
Gene summary
Basic gene Info.Gene symbolAIFM1
Gene nameapoptosis-inducing factor, mitochondrion-associated, 1
SynonymsAIF|CMT2D|CMTX4|COWCK|COXPD6|NADMR|NAMSD|PDCD8
CytomapUCSC genome browser: Xq26.1
Type of geneprotein-coding
RefGenesNM_001130846.2,
NM_001130847.3,NM_004208.3,NM_145812.2,NM_145813.2,
DescriptionNeuropathy, axonal motor-sensory, with deafness and mental retardationapoptosis-inducing factor 1, mitochondrialneuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)programmed cell death 8 (apoptosis-inducing factor
Modification date20141222
dbXrefs MIM : 300169
MIM : 310490
HGNC : HGNC
Ensembl : ENSG00000156709
HPRD : 02161
Vega : OTTHUMG00000022392
ProteinUniProt: O95831
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AIFM1
BioGPS: 9131
PathwayNCI Pathway Interaction Database: AIFM1
KEGG: AIFM1
REACTOME: AIFM1
Pathway Commons: AIFM1
ContextiHOP: AIFM1
ligand binding site mutation search in PubMed: AIFM1
UCL Cancer Institute: AIFM1
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:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process17094969
GO:0030182neuron differentiation20111043


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Ligand binding site mutations for AIFM1
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
LBSAAchange of nsSNVCancer type# samples
F582I581MBRCA1
P335P335HCOAD1
L267R265ICOAD1
K177E178QHNSC1
A259A259ELUAD1
G138G138VLUAD1
I306T304MSTAD1
I137I137MUCEC1
E336E336DUCEC1
R285R285IUCEC1
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 AIFM1
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
E336E336D-1.452292
P335P335H-1.2912307
F582I581M-1.2750536
K177E178Q-1.2169251
I137I137M-1.0337651
R285R285I-1.0028175
A259A259E-0.88708607
I306T304M-0.82479733
G138G138V-0.81966204
L267R265I-0.10813316
(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 AIFM1 from PDB

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Differential gene expression and gene-gene network for AIFM1
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 AIFM1 and the right PPI network was created from samples without mutations in the LBS of AIFM1. 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 AIFM1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0020179Huntington Disease2Biomarker
umls:C0011853Diabetes Mellitus, Experimental1Biomarker
umls:C0011854Diabetes Mellitus, Type 11Biomarker
umls:C0027540Necrosis1Therapeutic
umls:C0035305Retinal Detachment1Biomarker

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

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Pharmacological information for AIFM1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB03147Flavin adenine dinucleotideSmall molecule
InvestigationalDB05282MCCSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of AIFM1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NADNAD ZWITTERION4burAF582
NADNAD ZWITTERION4burBF582
NADNAD ZWITTERION4burCF582
NADNAD ZWITTERION4burDF582
FADFAD4burBG138 A259 R285
FADFAD1m6iAG138 K177 A259 R285
FADFAD4fdcBG138 K177 A259 R285
FADFAD4liiAG138 K177 A259 R285
FADFAD4burCG138 K177 A259 R285
FADFAD4burDG138 K177 A259 R285
FADFAD4bv6AG138 K177 A259 R285
FADFAD4burAI137 G138 K177 A259 R285
NADNAD ZWITTERION4burBL267 I306 P335 E336
NADNAD ZWITTERION4burCL267 I306 P335 E336
NADNAD ZWITTERION4burAL267 P335 E336
NADNAD ZWITTERION4burDL267 P335 E336


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Conservation information for LBS of AIFM1
Multiple alignments for O95831 in multiple species
LBSAA sequence# speciesSpecies
A142IGGGTAAFAAA3Homo sapiens, Mus musculus, Rattus norvegicus
A259EKCLIATGGTP3Homo sapiens, Mus musculus, Rattus norvegicus
A397DHIVTAVGLEP2Mus musculus, Rattus norvegicus
A397DHIVAAVGLEP1Homo sapiens
A458EHHDHAVVSGR3Homo sapiens, Mus musculus, Rattus norvegicus
D165LIVSEDPELPY3Homo sapiens, Mus musculus, Rattus norvegicus
D438IWVAGDAACFY3Homo sapiens, Mus musculus, Rattus norvegicus
D456RVEHHDHAVVS3Homo sapiens, Mus musculus, Rattus norvegicus
E164VLIVSEDPELP3Homo sapiens, Mus musculus, Rattus norvegicus
E314GFLGSELACAL3Homo sapiens, Mus musculus, Rattus norvegicus
E336IQLFPEKGNMG3Homo sapiens, Mus musculus, Rattus norvegicus
E453GRRRVEHHDHA3Homo sapiens, Mus musculus, Rattus norvegicus
E493PDVGYEAIGLV3Homo sapiens, Mus musculus, Rattus norvegicus
F284SRTTLFRKIGD3Homo sapiens, Mus musculus, Rattus norvegicus
F310VIGGGFLGSEL2Mus musculus, Rattus norvegicus
F310IIGGGFLGSEL1Homo sapiens
F334EVIQLFPEKGN3Homo sapiens, Mus musculus, Rattus norvegicus
F482WHQSMFWSDLG3Homo sapiens, Mus musculus, Rattus norvegicus
F582VLWNVFNRMPI2Mus musculus, Rattus norvegicus
F582VLWNIFNRMPI1Homo sapiens
G138PFLLIGGGTAA3Homo sapiens, Mus musculus, Rattus norvegicus
G139FLLIGGGTAAF3Homo sapiens, Mus musculus, Rattus norvegicus
G140LLIGGGTAAFA3Homo sapiens, Mus musculus, Rattus norvegicus
G261CLIATGGTPRS3Homo sapiens, Mus musculus, Rattus norvegicus
G307SITVIGGGFLG2Mus musculus, Rattus norvegicus
G307SITIIGGGFLG1Homo sapiens
G308ITVIGGGFLGS2Mus musculus, Rattus norvegicus
G308ITIIGGGFLGS1Homo sapiens
G309TVIGGGFLGSE2Mus musculus, Rattus norvegicus
G309TIIGGGFLGSE1Homo sapiens
G399IVTAVGLEPNV2Mus musculus, Rattus norvegicus
G399IVAAVGLEPNV1Homo sapiens
G437NIWVAGDAACF3Homo sapiens, Mus musculus, Rattus norvegicus
H454RRRVEHHDHAV3Homo sapiens, Mus musculus, Rattus norvegicus
H455RRVEHHDHAVV3Homo sapiens, Mus musculus, Rattus norvegicus
I137VPFLLIGGGTA3Homo sapiens, Mus musculus, Rattus norvegicus
I306KSITVIGGGFL2Mus musculus, Rattus norvegicus
I306KSITIIGGGFL1Homo sapiens
K177RPPLSKELWFS3Homo sapiens, Mus musculus, Rattus norvegicus
K231AVLTGKKVVHL2Mus musculus, Rattus norvegicus
K231AVLTGKKVVQL1Homo sapiens
K232VLTGKKVVHLD2Mus musculus, Rattus norvegicus
K232VLTGKKVVQLD1Homo sapiens
K286TTLFRKIGDFR3Homo sapiens, Mus musculus, Rattus norvegicus
K342KGNMGKILPEY2Homo sapiens, Rattus norvegicus
K342KGNMGKILPQY1Mus musculus
L267GTPRSLSAIDR3Homo sapiens, Mus musculus, Rattus norvegicus
L311IGGGFLGSELA3Homo sapiens, Mus musculus, Rattus norvegicus
L400VTAVGLEPNVE2Mus musculus, Rattus norvegicus
L400VAAVGLEPNVE1Homo sapiens
M481YWHQSMFWSDL3Homo sapiens, Mus musculus, Rattus norvegicus
N583LWNVFNRMPIA2Mus musculus, Rattus norvegicus
N583LWNIFNRMPIA1Homo sapiens
P173LPYMRPPLSKE3Homo sapiens, Mus musculus, Rattus norvegicus
P335VIQLFPEKGNM3Homo sapiens, Mus musculus, Rattus norvegicus
R172ELPYMRPPLSK3Homo sapiens, Mus musculus, Rattus norvegicus
R285RTTLFRKIGDF3Homo sapiens, Mus musculus, Rattus norvegicus
S176MRPPLSKELWF3Homo sapiens, Mus musculus, Rattus norvegicus
S484QSMFWSDLGPD3Homo sapiens, Mus musculus, Rattus norvegicus
T141LIGGGTAAFAA3Homo sapiens, Mus musculus, Rattus norvegicus
T260KCLIATGGTPR3Homo sapiens, Mus musculus, Rattus norvegicus
V162ARVLIVSEDPE3Homo sapiens, Mus musculus, Rattus norvegicus
V233LTGKKVVHLDV2Mus musculus, Rattus norvegicus
V233LTGKKVVQLDV1Homo sapiens
V398HIVTAVGLEPN2Mus musculus, Rattus norvegicus
V398HIVAAVGLEPN1Homo sapiens
W196LQFRQWNGKER2Mus musculus, Rattus norvegicus
W196LRFKQWNGKER1Homo sapiens
W483HQSMFWSDLGP3Homo sapiens, Mus musculus, Rattus norvegicus


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