Analysis of agammaglobulinemia, X-linked 2 (with growth hormone deficiency)
Analysis of agammaglobulinemia, X-linked 2 (with growth hormone deficiency) G2D Home
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REASONS FOR ASSOCIATION OVERVIEW OF CANDIDATES BEST 10 CANDIDATES BEST 100 CANDIDATES

CHROMOSOMAL REGION
Disease mapped: agammaglobulinemia, X-linked 2 (with growth hormone deficiency)
Chromosome: X
Genomic position start-stop: 0-24700000
length: 24700001
Band: Xp22
 LINKS

EntrezGene: [179]

MEDLINE:

OMIM: [300310] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY
A set of 1 papers related to this disease was derived from MEDLINE using the query:
agammaglobulinemia [tw] AND X-linked [tw] AND 2 [tw] AND (growth [tw] AND hormone [tw] AND deficiency) [tw]

MESH-C TERMS
The MeSH-C terms associated to the derived papers were collected.

Here you can see the terms ordered by the number of papers where they were found (number in brackets).

Agammaglobulinemia [1]
Echovirus Infections [1]
Dermatomyositis [1]
Meningoencephalitis [1]

Each name is linked to the corresponding term description by the NLM. The number in brackets is linked to the list of papers that contained the term. The points to the related MeSH-D terms.

 GO terms
We computed the GO terms associated to the MeSH-C terms selected for this disease.

Here you can see those with higher score of association.

0.001417 fructose-bisphosphate aldolase activity (function)
0.001312 creatine kinase activity (function)
0.001275 opsonin activity (function)
0.001047 complement component C2 complex (component)
0.001047 complement activation, classical pathway (process)
0.000890 3'(2'),5'-bisphosphate nucleotidase activity (function)
0.000850 opsonization (process)
0.000810 fructose metabolism (process)
0.000739 protein-tyrosine kinase activity (function)
0.000722 humoral immune response (process)
We show here only the top 10. You can also see the complete list of 237 GO terms.

Each name is linked to the corresponding term description by GO. The number indicates the strength of association to agammaglobulinemia, X-linked 2 (with growth hormone deficiency). The points to the related MeSH-D terms.
Follow the green arrows to navigate MeSH-C / MeSH-D / GO-terms relationship derived from our analysis of the whole MEDLINE database, and used to relate the phenotype of this disease to terms of gene functionality.

OVERVIEW OF CANDIDATES IN THE REGION

The graph represents the BLASTX hits found in the region and the genes predicted or known in the region.

Legend:
BLASTX hits RefSeq genes Ensembl genes
                                                                                                                                               
> 1e-10 > 1e-20 > 1e-50 > 1e-80 > 1e-100 > 0
                                                           
                                                       

Graph with GO scoring vs genomic position [PostScript graphic]

BEST SCORING 10 CANDIDATES
Here we show only the best scoring ten candidates but there are more. You can see the best scoring 100 candidates.

What is in a candidate?

CANDIDATE 1
DNA (Note) PROTEIN: [NP_005035]
R-score = 0.004200; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
   
1 aa NP_032952 762 aa

Similarity found to protein:
[19092|NP_032952] | Mus musculus | protein kinase, cGMP-dependent, type II | length=762 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000157 protein kinase activity (function)
0.000064 protein serine/threonine kinase activity (function)
0.000000 cGMP-dependent protein kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000064 ATP binding (function)
0.000000 cAMP-dependent protein kinase complex (component)
0.000602 protein amino acid phosphorylation (process)
0.000000 cAMP-dependent protein kinase regulator activity (function)
0.000000 kinase activity (function)
0.000000 transferase activity (function)
0.000000 cGMP binding (function)
BLASTX hits:
E-value 6e-17 prot=519..601 DNA=3566808..3566560 fr=762 per=45/83 [EST]
CANDIDATE 2
DNA (Note) PROTEIN: [NP_001712] [NP_975010]
R-score = 0.005063; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
     
1 aa NP_038510 659 aa

Similarity found to protein:
[12229|NP_038510] | Mus musculus | Bruton agammaglobulinemia tyrosine kinase | length=659 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000157 protein kinase activity (function)
0.000064 protein serine/threonine kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000064 ATP binding (function)
0.000602 protein amino acid phosphorylation (process)
0.000188 intracellular signaling cascade (process)
0.000000 I-kappaB kinase/NF-kappaB cascade (process)
0.000155 membrane (component)
0.000000 kinase activity (function)
0.000000 transferase activity (function)
0.000000 peptidyl-tyrosine phosphorylation (process)
0.000000 metal ion binding (function)
BLASTX hits:
E-value 1e-19 prot=448..525 DNA=15319004..15319237 fr=659 per=46/78 [EST]
E-value 5e-16 prot=393..450 DNA=15314163..15314336 fr=659 per=40/58 [EST]
E-value 1e-13 prot=580..636 DNA=15326842..15327027 fr=659 per=36/62 [EST]
CANDIDATE 3
DNA (Note) PROTEIN: [NP_056234]
R-score = 0.005638; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
   
1 aa NP_034336 822 aa

Similarity found to protein:
[14182|NP_034336] | Mus musculus | fibroblast growth factor receptor 1 | length=822 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000000 induction of an organ (process)
0.000000 morphogenesis of a branching structure (process)
0.000157 protein kinase activity (function)
0.000064 protein serine/threonine kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000139 receptor activity (function)
0.000000 fibroblast growth factor receptor activity (function)
0.000064 ATP binding (function)
0.000045 extracellular space (component)
0.000602 protein amino acid phosphorylation (process)
0.000209 signal transduction (process)
0.000000 brain development (process)
0.000000 salivary gland morphogenesis (process)
0.000163 heparin binding (function)
0.000088 integral to membrane (component)
0.000000 kinase activity (function)
0.000000 transferase activity (function)
0.000000 lung development (process)
0.000000 regulation of cell proliferation (process)
0.000000 inner ear morphogenesis (process)
BLASTX hits:
E-value 3e-11 prot=32..289 DNA=3229239..3228544 fr=822 per=64/266 [EST]
CANDIDATE 4
DNA (Note)
R-score = 0.009148; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
  
1 aa NP_077049 163 aa

Similarity found to protein:
[29524|NP_077049] | Rattus norvegicus | LIM motif-containing protein kinase 2 | length=163 aa
GO annotation:
0.000157 protein kinase activity (function)
0.000064 protein serine/threonine kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000000 electron transporter activity (function)
0.000089 protein binding (function)
0.000064 ATP binding (function)
0.000039 nucleus (component)
0.000141 cytoplasm (component)
0.000000 electron transport (process)
0.000602 protein amino acid phosphorylation (process)
0.000188 intracellular signaling cascade (process)
0.000000 spermatogenesis (process)
0.000000 zinc ion binding (function)
0.000000 kinase activity (function)
0.000000 transferase activity (function)
0.000000 heme binding (function)
BLASTX hits:
E-value 4e-27 prot=105..163 DNA=11482723..11482547 fr=163 per=47/59 [EST]
E-value 4e-27 prot=73..104 DNA=11482820..11482725 fr=163 per=26/32 [EST]
CANDIDATE 5
DNA (Note) PROTEIN: [NP_001001671]
R-score = 0.012140; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
     
1 aa NP_663159 934 aa

Similarity found to protein:
[9064|NP_663159] | Homo sapiens | mitogen-activated protein kinase kinase kinase 6 isoform 2 | length=934 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000064 protein serine/threonine kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000064 ATP binding (function)
0.000602 protein amino acid phosphorylation (process)
0.000000 kinase activity (function)
0.000000 transferase activity (function)
BLASTX hits:
E-value 3e-20 prot=661..722 DNA=19158081..19157893 fr=934 per=50/63 [EST]
E-value 6e-12 prot=544..592 DNA=19172989..19172837 fr=934 per=37/51 [EST]
CANDIDATE 6
DNA (Note)
R-score = 0.015937; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
   
1 aa NP_034847 647 aa

Similarity found to protein:
[16885|NP_034847] | Mus musculus | LIM-domain containing, protein kinase | length=647 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000157 protein kinase activity (function)
0.000064 protein serine/threonine kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000089 protein binding (function)
0.000064 ATP binding (function)
0.000039 nucleus (component)
0.000000 focal adhesion (component)
0.000602 protein amino acid phosphorylation (process)
0.000000 zinc ion binding (function)
0.000000 kinase activity (function)
0.000000 transferase activity (function)
0.000000 metal ion binding (function)
BLASTX hits:
E-value 6e-57 prot=140..412 DNA=11482720..11481887 fr=647 per=120/287 [EST]
E-value 4e-17 prot=530..604 DNA=11481667..11481443 fr=647 per=44/75 [EST]
E-value 6e-57 prot=414..555 DNA=11481885..11481589 fr=647 per=45/142 [EST]
E-value 6e-57 prot=107..138 DNA=11482820..11482725 fr=647 per=16/32 [EST]
CANDIDATE 7
DNA (Note)
R-score = 0.018238; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
   
1 aa NP_058015 305 aa

Similarity found to protein:
[3984|NP_058015] | Homo sapiens | LIM domain kinase 1 isoform dLIMK | length=305 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000064 protein serine/threonine kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000089 protein binding (function)
0.000064 ATP binding (function)
0.000141 cytoplasm (component)
0.000602 protein amino acid phosphorylation (process)
0.000104 cell motility (process)
0.000209 signal transduction (process)
0.000000 Rho protein signal transduction (process)
0.000058 nervous system development (process)
0.000000 zinc ion binding (function)
0.000000 transferase activity (function)
0.000000 actin cytoskeleton organization and biogenesis (process)
0.000000 metal ion binding (function)
BLASTX hits:
E-value 6e-16 prot=140..258 DNA=11482720..11482382 fr=305 per=41/119 [EST]
E-value 6e-16 prot=107..138 DNA=11482820..11482725 fr=305 per=16/32 [EST]
CANDIDATE 8
DNA (Note)
R-score = 0.018526; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
   
1 aa NP_009101 555 aa

Similarity found to protein:
[10420|NP_009101] | Homo sapiens | testis-specific protein kinase 2 | length=555 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000000 magnesium ion binding (function)
0.000064 protein serine/threonine kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000064 ATP binding (function)
0.000039 nucleus (component)
0.000602 protein amino acid phosphorylation (process)
0.000221 apoptosis (process)
0.000188 intracellular signaling cascade (process)
0.000000 spermatogenesis (process)
0.000000 transferase activity (function)
0.000000 actin cytoskeleton organization and biogenesis (process)
0.000000 manganese ion binding (function)
0.000000 focal adhesion formation (process)
BLASTX hits:
E-value 3e-15 prot=62..293 DNA=11482096..11481443 fr=555 per=73/243 [EST]
CANDIDATE 9
DNA (Note) PROTEIN: [NP_003150] (Itself)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.021460; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
            
1 aa NP_003150 1030 aa

Similarity found to protein:
[6792|NP_003150] | Homo sapiens | cyclin-dependent kinase-like 5 | length=1030 aa
GO annotation:

0.000000 nucleotide binding (function)
0.000064 protein serine/threonine kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000064 ATP binding (function)
0.000602 protein amino acid phosphorylation (process)
0.000000 transferase activity (function)
BLASTX hits:
E-value 1e-178 prot=325..640 DNA=18381675..18382622 fr=1030 per=315/316 [EST] [P]
E-value 1e-30 prot=933..994 DNA=18428187..18428372 fr=1030 per=62/62 [EST] [P]
E-value 3e-29 prot=182..248 DNA=18365721..18365921 fr=1030 per=64/67 [EST] [P]
E-value 4e-24 prot=832..904 DNA=18406146..18406364 fr=1030 per=73/73 [EST] [P]
E-value 4e-21 prot=275..326 DNA=18376237..18376392 fr=1030 per=52/52 [EST] [P]
E-value 1e-16 prot=716..759 DNA=18390923..18391054 fr=1030 per=43/44 [EST] [P]
E-value 9e-16 prot=49..94 DNA=18353131..18353268 fr=1030 per=46/46 [EST] [P]
E-value 1e-13 prot=793..832 DNA=18402906..18403025 fr=1030 per=40/40 [EST] [P]
E-value 2e-13 prot=682..721 DNA=18387240..18387362 fr=1030 per=37/41 [EST] [P]
E-value 2e-11 prot=994..1030 DNA=18431209..18431319 fr=1030 per=37/37 [EST] [P]
CANDIDATE 10
DNA (Note)
R-score = 0.021575; GO-score = 0.000739
0 bp Chromosome X 24700000 bp
   
   
1 aa NP_113915 647 aa

Similarity found to protein:
[65172|NP_113915] | Rattus norvegicus | LIM motif-containing protein kinase 1 | length=647 aa
GO annotation:
0.000157 protein kinase activity (function)
0.000064 protein serine/threonine kinase activity (function)
0.000000 protein kinase CK2 activity (function)
0.000000 cAMP-dependent protein kinase activity (function)
0.000739 protein-tyrosine kinase activity (function)
0.000089 protein binding (function)
0.000064 ATP binding (function)
0.000039 nucleus (component)
0.000141 cytoplasm (component)
0.000000 focal adhesion (component)
0.000602 protein amino acid phosphorylation (process)
0.000104 cell motility (process)
0.000209 signal transduction (process)
0.000188 intracellular signaling cascade (process)
0.000000 Rho protein signal transduction (process)
0.000058 nervous system development (process)
0.000000 zinc ion binding (function)
0.000000 kinase activity (function)
0.000000 transferase activity (function)
0.000000 actin cytoskeleton organization and biogenesis (process)
BLASTX hits:
E-value 1e-56 prot=140..412 DNA=11482720..11481887 fr=647 per=119/287 [EST]
E-value 4e-17 prot=530..604 DNA=11481667..11481443 fr=647 per=44/75 [EST]
E-value 1e-56 prot=414..555 DNA=11481885..11481589 fr=647 per=46/142 [EST]
E-value 1e-56 prot=107..138 DNA=11482820..11482725 fr=647 per=16/32 [EST]