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 DYNC2H1
Gene summary
Basic gene Info.Gene symbolDYNC2H1
Gene namedynein, cytoplasmic 2, heavy chain 1
SynonymsATD3|DHC1b|DHC2|DNCH2|DYH1B|SRPS2B|SRTD3|hdhc11
CytomapUCSC genome browser: 11q21-q22.1
Type of geneprotein-coding
RefGenesNM_001080463.1,
NM_001377.2,NM_024606.2,
Descriptioncytoplasmic dynein 2 heavy chain 1dynein cytoplasmic heavy chain 2dynein heavy chain 11dynein heavy chain isotype 1Bdynein heavy chain, isotype 1Bdynein, cytoplasmic, heavy polypeptide 2
Modification date20141207
dbXrefs MIM : 603297
HGNC : HGNC
Ensembl : ENSG00000187240
Vega : OTTHUMG00000165941
ProteinUniProt: Q8NCM8
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DYNC2H1
BioGPS: 79659
PathwayNCI Pathway Interaction Database: DYNC2H1
KEGG: DYNC2H1
REACTOME: DYNC2H1
Pathway Commons: DYNC2H1
ContextiHOP: DYNC2H1
ligand binding site mutation search in PubMed: DYNC2H1
UCL Cancer Institute: DYNC2H1
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:0007030Golgi organization8666668


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Ligand binding site mutations for DYNC2H1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D2072D2072YBLCA1
I1825A1826VCOAD1
F2630E2632KCOAD1
G2298G2298WCOAD1
M2173G2175DCOAD1
D2055D2057ACOAD1
S2657G2655RSKCM1
I2441Q2439KSKCM1
M2268P2266SSKCM1
M2268R2270QSKCM1
K2359K2359NSTAD1
F2630E2632KSTAD1
D2072R2074QUCEC1
V1663V1663AUCEC1
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 DYNC2H1
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
G2298G2298W0.28941709
V1663V1663A-1.8905549
D2055D2057A-1.2211276
K2359K2359N-1.2190082
D2072R2074Q-0.9125662
I1825A1826V-0.84619739
M2268P2266S-0.69214692
M2268R2270Q-0.63861547
M2173G2175D-0.63254283
S2657G2655R-0.62402562
D2072D2072Y-0.58622723
F2630E2632K-0.49674241
I2441Q2439K-0.43473731
(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 DYNC2H1 from PDB

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Differential gene expression and gene-gene network for DYNC2H1
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 DYNC2H1 and the right PPI network was created from samples without mutations in the LBS of DYNC2H1. 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 DYNC2H1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0036069Asphyxiating Thoracic Dystrophy 34Biomarker, GeneticVariation
umls:C0036996Short Rib-Polydactyly Syndrome1Biomarker

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

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Pharmacological information for DYNC2H1
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.
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 DYNC2H1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MGMAGNESIUM(2+)4rh7AD2055
ADPADP4rh7AF2630 S2657
ATPATP4rh7AM2173
ADPADP4rh7AM2268 G2298 K2359 I2441
AOVADP ORTHOVANADATE4rh7AV1663 I1825 D2072


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Conservation information for LBS of DYNC2H1
Multiple alignments for Q8NCM8 in multiple species
LBSAA sequence# speciesSpecies
A1691NPYGPAGTGKT4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
A2105SCASPATISRM3Homo sapiens, Mus musculus, Rattus norvegicus
A2105QFASPATVSRM1Caenorhabditis elegans
C2295VGPEGCGKGML3Homo sapiens, Mus musculus, Rattus norvegicus
C2295TGTTGCGKQQL1Caenorhabditis elegans
C2497YFFTPCILTQW3Homo sapiens, Mus musculus, Rattus norvegicus
C2497FLFSPRDLTNW1Caenorhabditis elegans
D1741AWGCFDEFNRL4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
D2055SWIICDGDIDP3Homo sapiens, Mus musculus, Rattus norvegicus
D2055HWIVCDGDIDP1Caenorhabditis elegans
D2071LNSVLDDNRLL4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
D2072NSVLDDNRLLT4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
D2626DNQNLDILLFQ2Mus musculus, Rattus norvegicus
D2626DNQNLDILLFH1Homo sapiens
D2626EIANFNCPLTS1Caenorhabditis elegans
E1697GTGKTESVKAL4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
E1742WGCFDEFNRLE3Homo sapiens, Mus musculus, Rattus norvegicus
E1742WGCFDEFNRLD1Caenorhabditis elegans
E1953EEANYEVIPNQ2Mus musculus, Rattus norvegicus
E1953EEANYEIIPNQ1Homo sapiens
E1953QEMGIKLGDKQ1Caenorhabditis elegans
E2095VNFVFETHDLS3Homo sapiens, Mus musculus, Rattus norvegicus
E2095VNFLFETDSLQ1Caenorhabditis elegans
E2293ILVGPEGCGKG3Homo sapiens, Mus musculus, Rattus norvegicus
E2293LITGTTGCGKQ1Caenorhabditis elegans
F1947ALKQVFEEANY3Homo sapiens, Mus musculus, Rattus norvegicus
F1947PLGVAAQEMGI1Caenorhabditis elegans
F2630LDILLFQEVLE2Mus musculus, Rattus norvegicus
F2630LDILLFHEVLE1Homo sapiens
F2630FNCPLTSQLAF1Caenorhabditis elegans
G1692PYGPAGTGKTE4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
G1694GPAGTGKTESV4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
G1982IVGPSGAGKST3Homo sapiens, Mus musculus, Rattus norvegicus
G1982VVGAAGSGKST1Caenorhabditis elegans
G1984GPSGAGKSTLW3Homo sapiens, Mus musculus, Rattus norvegicus
G1984GAAGSGKSTIW1Caenorhabditis elegans
G2294LVGPEGCGKGM3Homo sapiens, Mus musculus, Rattus norvegicus
G2294ITGTTGCGKQQ1Caenorhabditis elegans
G2296GPEGCGKGMLL3Homo sapiens, Mus musculus, Rattus norvegicus
G2296GTTGCGKQQLL1Caenorhabditis elegans
G2298EGCGKGMLLRY3Homo sapiens, Mus musculus, Rattus norvegicus
G2298TGCGKQQLLKH1Caenorhabditis elegans
G2658LAGRSGVGRRT3Homo sapiens, Mus musculus, Rattus norvegicus
G2658LPGRPGFGRRD1Caenorhabditis elegans
G2660GRSGVGRRTVT2Mus musculus, Rattus norvegicus
G2660GRSGVGRRTIT1Homo sapiens
G2660GRPGFGRRDSV1Caenorhabditis elegans
I1825PDNDLIAEVIL2Mus musculus, Rattus norvegicus
I1825PDNELIAEVIL1Homo sapiens
I1825PDNELISSTIL1Caenorhabditis elegans
I2263LTLPVIQTPDM1Homo sapiens
I2263DLRPFVQTADT1Caenorhabditis elegans
I2263HILPVIQTPDM1Mus musculus
I2263HSLPVIQTPDM1Rattus norvegicus
I2441EQLQTIYGAYL3Homo sapiens, Mus musculus, Rattus norvegicus
I2441SQLTSIYRTYL1Caenorhabditis elegans
I2627NQNLDILLFQE2Mus musculus, Rattus norvegicus
I2627NQNLDILLFHE1Homo sapiens
I2627IANFNCPLTSQ1Caenorhabditis elegans
K1695PAGTGKTESVK4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
K1870GLRALKTVLRG3Homo sapiens, Mus musculus, Rattus norvegicus
K1870GLRALKVVLGG1Caenorhabditis elegans
K1985PSGAGKSTLWR3Homo sapiens, Mus musculus, Rattus norvegicus
K1985AAGSGKSTIWK1Caenorhabditis elegans
K2297PEGCGKGMLLR3Homo sapiens, Mus musculus, Rattus norvegicus
K2297TTGCGKQQLLK1Caenorhabditis elegans
K2359LVLYLKDINLP3Homo sapiens, Mus musculus, Rattus norvegicus
K2359MILFLKGINLP1Caenorhabditis elegans
L1662GNAPKLVYTPL2Mus musculus, Rattus norvegicus
L1662GNASKLVYTPL1Homo sapiens
L1662GNYAKLVHTPL1Caenorhabditis elegans
L1866HYDWGLRALKT3Homo sapiens, Mus musculus, Rattus norvegicus
L1866HYDWGLRALKV1Caenorhabditis elegans
L2125TDLNSLIKSWL3Homo sapiens, Mus musculus, Rattus norvegicus
L2125VTPKDIVASWL1Caenorhabditis elegans
L2625RDNQNLDILLF3Homo sapiens, Mus musculus, Rattus norvegicus
L2625FEIANFNCPLT1Caenorhabditis elegans
L2628QNLDILLFQEV2Mus musculus, Rattus norvegicus
L2628QNLDILLFHEV1Homo sapiens
L2628ANFNCPLTSQL1Caenorhabditis elegans
M2173LVGTVMNGLSH3Homo sapiens, Mus musculus, Rattus norvegicus
M2173SFAILKNGLTH1Caenorhabditis elegans
M2268IQTPDMQRGLD3Homo sapiens, Mus musculus, Rattus norvegicus
M2268VQTADTQRYSD1Caenorhabditis elegans
M2299GCGKGMLLRYA3Homo sapiens, Mus musculus, Rattus norvegicus
M2299GCGKQQLLKHC1Caenorhabditis elegans
M2873TPSRYMTFLHV2Homo sapiens, Mus musculus
M2873QPIKYRQFVEN1Caenorhabditis elegans
M2873TPSRYMTFLRV1Rattus norvegicus
N1792IFITMNPAGKG3Homo sapiens, Mus musculus, Rattus norvegicus
N1792IFVTLNPAGKG1Caenorhabditis elegans
P1690GNPYGPAGTGK4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
P2496HYFFTPCILTQ3Homo sapiens, Mus musculus, Rattus norvegicus
P2496VFLFSPRDLTN1Caenorhabditis elegans
Q1958EVIPNQMKKAL2Mus musculus, Rattus norvegicus
Q1958EIIPNQIKKAL1Homo sapiens
Q1958KLGDKQMEKVF1Caenorhabditis elegans
R1867YDWGLRALKTV3Homo sapiens, Mus musculus, Rattus norvegicus
R1867YDWGLRALKVV1Caenorhabditis elegans
R2109PATISRMGMIF3Homo sapiens, Mus musculus, Rattus norvegicus
R2109PATVSRMGMIY1Caenorhabditis elegans
R2420HKLTTRFTSIV3Homo sapiens, Mus musculus, Rattus norvegicus
R2420VSISNRLFSLL1Caenorhabditis elegans
R2661RSGVGRRTVTS2Mus musculus, Rattus norvegicus
R2661RSGVGRRTITS1Homo sapiens
R2661RPGFGRRDSVR1Caenorhabditis elegans
R2662SGVGRRTVTSL2Mus musculus, Rattus norvegicus
R2662SGVGRRTITSL1Homo sapiens
R2662PGFGRRDSVRL1Caenorhabditis elegans
S1981VIVGPSGAGKS3Homo sapiens, Mus musculus, Rattus norvegicus
S1981VVVGAAGSGKS1Caenorhabditis elegans
S1986SGAGKSTLWRM3Homo sapiens, Mus musculus, Rattus norvegicus
S1986AGSGKSTIWKI1Caenorhabditis elegans
S2657LLAGRSGVGRR3Homo sapiens, Mus musculus, Rattus norvegicus
S2657FLPGRPGFGRR1Caenorhabditis elegans
T1693YGPAGTGKTES4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
T1696AGTGKTESVKA4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
T1987GAGKSTLWRML3Homo sapiens, Mus musculus, Rattus norvegicus
T1987GSGKSTIWKIL1Caenorhabditis elegans
T2500TPCILTQWVLG3Homo sapiens, Mus musculus, Rattus norvegicus
T2500SPRDLTNWVVS1Caenorhabditis elegans
T2663GVGRRTVTSLV2Mus musculus, Rattus norvegicus
T2663GVGRRTITSLV1Homo sapiens
T2663GFGRRDSVRLV1Caenorhabditis elegans
V1663NAPKLVYTPLT2Mus musculus, Rattus norvegicus
V1663NASKLVYTPLT1Homo sapiens
V1663NYAKLVHTPLT1Caenorhabditis elegans
V2262GLTLPVIQTPD1Homo sapiens
V2262EDLRPFVQTAD1Caenorhabditis elegans
V2262GHILPVIQTPD1Mus musculus
V2262GHSLPVIQTPD1Rattus norvegicus
Y1952FEEANYEVIPN2Mus musculus, Rattus norvegicus
Y1952FEEANYEIIPN1Homo sapiens
Y1952AQEMGIKLGDK1Caenorhabditis elegans
Y2445TIYGAYLEAVL2Mus musculus, Rattus norvegicus
Y2445TIYGAYLEPVL1Homo sapiens
Y2445SIYRTYLTPIL1Caenorhabditis elegans


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