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 IYD
Gene summary
Basic gene Info.Gene symbolIYD
Gene nameiodotyrosine deiodinase
SynonymsC6orf71|DEHAL1|TDH4|dJ422F24.1
CytomapUCSC genome browser: 6q25.1
Type of geneprotein-coding
RefGenesNM_001164694.1,
NM_001164695.1,NM_203395.2,
DescriptionIYD-1iodotyrosine dehalogenase 1
Modification date20141207
dbXrefs MIM : 612025
HGNC : HGNC
Ensembl : ENSG00000009765
HPRD : 16668
Vega : OTTHUMG00000016347
ProteinUniProt: Q6PHW0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IYD
BioGPS: 389434
PathwayNCI Pathway Interaction Database: IYD
KEGG: IYD
REACTOME: IYD
Pathway Commons: IYD
ContextiHOP: IYD
ligand binding site mutation search in PubMed: IYD
UCL Cancer Institute: IYD
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


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Ligand binding site mutations for IYD

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R101R101WBRCA1
L173K174NCOAD1
Y161M162ICOAD1
K182E183QKIRC1
L277D276NSKCM1
R101R101WUCEC1
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 IYD
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
R101R101W-1.0845201
L173K174N-1.0500199
L277D276N-1.0235463
Y161M162I-0.77889594
K182E183Q-0.71217128
(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 IYD from PDB

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Differential gene expression and gene-gene network for IYD
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 IYD and the right PPI network was created from samples without mutations in the LBS of IYD. 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 IYD
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0342195Thyroid Dyshormonogenesis 44Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
15776R101WPathogenicGermlineMedGen:C0342195
OMIM:274800
Orphanet:ORPHA95716
SNOMED CT:17885001

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Pharmacological information for IYD

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB033743,5-DiiodotyrosineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IYD go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FMNFLAVIN MONONUCLEOTIDE4ttbAR101
FMNFLAVIN MONONUCLEOTIDE4ttbBR101
FMNFLAVIN MONONUCLEOTIDE4ttcER101
FMNFLAVIN MONONUCLEOTIDE4ttcAR101 L277
FMNFLAVIN MONONUCLEOTIDE4ttcBR101 L277
FMNFLAVIN MONONUCLEOTIDE4ttcCR101 L277
FMNFLAVIN MONONUCLEOTIDE4ttcDR101 L277
FMNFLAVIN MONONUCLEOTIDE4ttcFR101 L277
IYR3-IODO-L-TYROSINE4ttcAY161 L173 K182
IYR3-IODO-L-TYROSINE4ttcBY161 L173 K182
IYR3-IODO-L-TYROSINE4ttcCY161 L173 K182
IYR3-IODO-L-TYROSINE4ttcDY161 L173 K182
IYR3-IODO-L-TYROSINE4ttcEY161 L173 K182
IYR3-IODO-L-TYROSINE4ttcFY161 L173 K182


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Conservation information for LBS of IYD
Multiple alignments for Q6PHW0 in multiple species
LBSAA sequence# speciesSpecies
A130TAPSGAHTEPW3Homo sapiens, Mus musculus, Rattus norvegicus
E157IIEEEEEINYM3Homo sapiens, Mus musculus, Rattus norvegicus
G129GTAPSGAHTEP3Homo sapiens, Mus musculus, Rattus norvegicus
H131APSGAHTEPWT3Homo sapiens, Mus musculus, Rattus norvegicus
I215HYYNEISVSIA3Homo sapiens, Mus musculus, Rattus norvegicus
I219EISVSIACGIL2Homo sapiens, Rattus norvegicus
I219EISVSIACGLL1Mus musculus
K182RTNWIKEYLDT3Homo sapiens, Mus musculus, Rattus norvegicus
L173RWVTDLKKLRT3Homo sapiens, Mus musculus, Rattus norvegicus
L176TDLKKLRTNWI3Homo sapiens, Mus musculus, Rattus norvegicus
L277ATVPDLKRKPL1Homo sapiens
L277ATVPDLKRKAL1Mus musculus
L277ATVPDLKRKTL1Rattus norvegicus
M165NYMKRMGKRWV2Mus musculus, Rattus norvegicus
M165NYMKRMGHRWV1Homo sapiens
N179KKLRTNWIKEY3Homo sapiens, Mus musculus, Rattus norvegicus
P127AAGTAPSGAHT2Mus musculus, Rattus norvegicus
P127TAGTAPSGAHT1Homo sapiens
R100ELLNKRRSVRF2Homo sapiens, Mus musculus
R100ELLSKRRSIRF1Rattus norvegicus
R101LLNKRRSVRFI2Homo sapiens, Mus musculus
R101LLSKRRSIRFI1Rattus norvegicus
R104KRRSVRFISNE1Homo sapiens
R104KRRSVRFISSE1Mus musculus
R104KRRSIRFISSE1Rattus norvegicus
R279VPDLKRKPLDQ1Homo sapiens
R279VPDLKRKALDQ1Mus musculus
R279VPDLKRKTLDQ1Rattus norvegicus
S102LNKRRSVRFIS2Homo sapiens, Mus musculus
S102LSKRRSIRFIS1Rattus norvegicus
S128AGTAPSGAHTE3Homo sapiens, Mus musculus, Rattus norvegicus
S216YYNEISVSIAC3Homo sapiens, Mus musculus, Rattus norvegicus
T178LKKLRTNWIKE3Homo sapiens, Mus musculus, Rattus norvegicus
T237GLVTVTTTPLN3Homo sapiens, Mus musculus, Rattus norvegicus
T238LVTVTTTPLNC3Homo sapiens, Mus musculus, Rattus norvegicus
T239VTVTTTPLNCG3Homo sapiens, Mus musculus, Rattus norvegicus
V236AGLVTVTTTPL3Homo sapiens, Mus musculus, Rattus norvegicus
W169RMGKRWVTDLK2Mus musculus, Rattus norvegicus
W169RMGHRWVTDLK1Homo sapiens
Y161EEEINYMKRMG3Homo sapiens, Mus musculus, Rattus norvegicus
Y211KKKVHYYNEIS3Homo sapiens, Mus musculus, Rattus norvegicus
Y212KKVHYYNEISV3Homo sapiens, Mus musculus, Rattus norvegicus


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