Analysis of acromesomelic dysplasia, Maroteaux type
Analysis of acromesomelic dysplasia, Maroteaux type G2D Home
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REASONS FOR ASSOCIATION OVERVIEW OF CANDIDATES BEST 10 CANDIDATES BEST 100 CANDIDATES

CHROMOSOMAL REGION
Disease mapped: acromesomelic dysplasia, Maroteaux type
Chromosome: 9
Genomic position start-stop: 33200000-67500000
length: 34300001
Band: 9p13-q12
 LINKS

EntrezGene: [264]

MEDLINE: [9634515]

OMIM: [602875] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY
A set of 2 papers related to this disease was derived from MEDLINE using the query:
acromesomelic [tw] AND dysplasia [tw] AND Maroteaux [tw] AND type [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).

Osteochondrodysplasias [2]

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.

0.008954 induction of apoptosis by hormones (process)
0.008954 parathyroid hormone receptor activity (function)
0.006872 fibroblast growth factor receptor signaling pathway (process)
0.004440 fibroblast growth factor receptor activity (function)
0.002239 peptide hormone (function)
0.001924 MAPKKK cascade (process)
0.001875 collagen (function)
0.001783 arylsulfatase activity (function)
0.001327 calcium ion homeostasis (process)
We show here only the top 10. You can also see the complete list of 307 GO terms.

Each name is linked to the corresponding term description by GO. The number indicates the strength of association to acromesomelic dysplasia, Maroteaux type. 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_777610]

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.000748; GO-score = 0.006872
33200000 bp Chromosome 9 67500000 bp
     
  
1 aa NP_037083 215 aa

Similarity found to protein:
[25443|NP_037083] | Rattus norvegicus | fibroblast growth factor 10 | length=215 aa
GO annotation:

0.000000 protein import into nucleus, translocation (process)
0.000048 regulation of progression through cell cycle (process)
0.000099 angiogenesis (process)
0.000000 induction of an organ (process)
0.000000 fibroblast growth factor receptor binding (function)
0.000037 protein binding (function)
0.000081 extracellular region (component)
0.000062 extracellular space (component)
0.000074 nucleus (component)
0.000000 response to stress (process)
0.000000 signal transduction (process)
0.000186 cell-cell signaling (process)
0.000000 growth factor activity (function)
0.000112 heparin binding (function)
0.000153 positive regulation of cell proliferation (process)
0.006872 fibroblast growth factor receptor signaling pathway (process)
0.000000 organ morphogenesis (process)
0.000000 cell surface (component)
0.000000 cell differentiation (process)
0.000000 embryonic limb morphogenesis (process)
0.000000 tissue regeneration (process)
0.000000 regulation of transcription (process)
0.000000 negative regulation of cell differentiation (process)
0.000000 positive regulation of receptor mediated endocytosis (process)
0.000000 urothelial cell proliferation (process)
0.000000 positive regulation of urothelial cell proliferation (process)
BLASTX hits:
E-value 1e-13 prot=151..213 DNA=43495572..43495384 fr=215 per=37/63 [EST] [P]
E-value 1e-13 prot=151..213 DNA=43454498..43454686 fr=215 per=37/63 [EST] [P]
E-value 1e-13 prot=151..213 DNA=65069680..65069868 fr=215 per=37/63 [EST] [P]
CANDIDATE 2
DNA (Note) PROTEIN: [NP_777610]

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.001093; GO-score = 0.006872
33200000 bp Chromosome 9 67500000 bp
     
  
1 aa NP_004456 208 aa

Similarity found to protein:
[2255|NP_004456] | Homo sapiens | fibroblast growth factor 10 precursor | length=208 aa
GO annotation:

0.000000 protein import into nucleus, translocation (process)
0.000048 regulation of progression through cell cycle (process)
0.000000 fibroblast growth factor receptor binding (function)
0.000062 extracellular space (component)
0.000074 nucleus (component)
0.000000 response to stress (process)
0.000000 signal transduction (process)
0.000186 cell-cell signaling (process)
0.000000 growth factor activity (function)
0.000112 heparin binding (function)
0.006872 fibroblast growth factor receptor signaling pathway (process)
0.000000 organ morphogenesis (process)
0.000000 cell surface (component)
0.000000 embryonic limb morphogenesis (process)
0.000000 regulation of transcription (process)
0.000000 positive regulation of receptor mediated endocytosis (process)
0.000000 urothelial cell proliferation (process)
0.000000 positive regulation of urothelial cell proliferation (process)
BLASTX hits:
E-value 1e-13 prot=144..206 DNA=43495572..43495384 fr=208 per=37/63 [EST] [P]
E-value 1e-13 prot=144..206 DNA=43454498..43454686 fr=208 per=37/63 [EST] [P]
E-value 1e-13 prot=144..206 DNA=65069680..65069868 fr=208 per=37/63 [EST] [P]
CANDIDATE 3
DNA (Note) PROTEIN: [NP_777610]

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.001208; GO-score = 0.006872
33200000 bp Chromosome 9 67500000 bp
     
  
1 aa NP_032028 209 aa

Similarity found to protein:
[14165|NP_032028] | Mus musculus | fibroblast growth factor 10 | length=209 aa
GO annotation:

0.000000 induction of an organ (process)
0.000000 fibroblast growth factor receptor binding (function)
0.000037 protein binding (function)
0.000062 extracellular space (component)
0.000186 cell-cell signaling (process)
0.000000 growth factor activity (function)
0.000153 positive regulation of cell proliferation (process)
0.006872 fibroblast growth factor receptor signaling pathway (process)
0.000000 organ morphogenesis (process)
0.000000 negative regulation of cell differentiation (process)
BLASTX hits:
E-value 1e-13 prot=145..207 DNA=43495572..43495384 fr=209 per=38/63 [EST] [P]
E-value 1e-13 prot=145..207 DNA=43454498..43454686 fr=209 per=38/63 [EST] [P]
E-value 1e-13 prot=145..207 DNA=65069680..65069868 fr=209 per=38/63 [EST] [P]
CANDIDATE 4
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.003049; GO-score = 0.001924
33200000 bp Chromosome 9 67500000 bp
   
   
1 aa NP_524744 197 aa

Similarity found to protein:
[44360|NP_524744] | Drosophila melanogaster | Rab-related protein 4 CG3129-PA | length=197 aa
GO annotation:

0.000000 two-component signal transduction system (phosphorelay) (process)
0.001924 MAPKKK cascade (process)
0.000254 DNA binding (function)
0.000041 GTPase activity (function)
0.000085 GTP binding (function)
0.000364 regulation of transcription, DNA-dependent (process)
0.000000 intracellular protein transport (process)
0.000130 cell adhesion (process)
0.000043 small GTPase mediated signal transduction (process)
0.000042 regulation of cell shape (process)
0.000000 vesicle-mediated transport (process)
0.000000 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (function)
BLASTX hits:
E-value 5e-27 prot=3..179 DNA=37627276..37626749 fr=197 per=71/179 [EST] [P]
CANDIDATE 5
DNA (Note) PROTEIN: [NP_006265] (Itself)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.006444; GO-score = 0.001327
33200000 bp Chromosome 9 67500000 bp
   
   
1 aa NP_006265 98 aa

Similarity found to protein:
[6363|NP_006265] | Homo sapiens | small inducible cytokine A19 precursor | length=98 aa
GO annotation:

0.000062 extracellular space (component)
0.001327 calcium ion homeostasis (process)
0.000152 chemotaxis (process)
0.000028 inflammatory response (process)
0.000000 signal transduction (process)
0.000000 sensory perception (process)
0.000000 chemokine activity (function)
0.000000 response to virus (process)
BLASTX hits:
E-value 2e-15 prot=16..55 DNA=34680344..34680225 fr=98 per=40/40 [EST] [P]
CANDIDATE 6
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.006501; GO-score = 0.001327
33200000 bp Chromosome 9 67500000 bp
   
  
1 aa NP_033804 463 aa

Similarity found to protein:
[11750|NP_033804] | Mus musculus | annexin A7 | length=463 aa
GO annotation:

0.000107 calcium ion binding (function)
0.000037 protein binding (function)
0.000000 calcium-dependent phospholipid binding (function)
0.000074 nucleus (component)
0.000000 nuclear envelope (component)
0.000000 cytosol (component)
0.000000 plasma membrane (component)
0.001327 calcium ion homeostasis (process)
0.000052 cell proliferation (process)
BLASTX hits:
E-value 2e-63 prot=152..462 DNA=33614345..33615280 fr=463 per=135/312 [EST] [P]
CANDIDATE 7
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.008112; GO-score = 0.001327
33200000 bp Chromosome 9 67500000 bp
  
    
1 aa NP_058729 562 aa

Similarity found to protein:
[24645|NP_058729] | Rattus norvegicus | phosphoglucomutase 1 | length=562 aa
GO annotation:

0.000000 magnesium ion binding (function)
0.000000 phosphoglucomutase activity (function)
0.000000 cytoplasm (component)
0.000021 carbohydrate metabolism (process)
0.000000 glucose metabolism (process)
0.001327 calcium ion homeostasis (process)
0.000000 isomerase activity (function)
0.000000 intramolecular transferase activity, phosphotransferases (function)
BLASTX hits:
E-value 6e-23 prot=228..291 DNA=66923379..66923188 fr=562 per=50/64 [EST] [P]
E-value 2e-14 prot=131..184 DNA=66930536..66930375 fr=562 per=38/54 [EST] [P]
E-value 7e-13 prot=292..343 DNA=66922593..66922438 fr=562 per=39/52 [EST] [P]
E-value 7e-13 prot=2..83 DNA=66958234..66957986 fr=562 per=38/83 [EST] [P]
E-value 6e-12 prot=83..137 DNA=66937500..66937336 fr=562 per=47/55 [EST] [P]
E-value 5e-22 prot=228..291 DNA=67162300..67162109 fr=562 per=49/64 [EST] [P]
E-value 2e-14 prot=131..184 DNA=67169457..67169296 fr=562 per=38/54 [EST] [P]
E-value 7e-13 prot=2..83 DNA=67196182..67195934 fr=562 per=38/83 [EST] [P]
E-value 9e-13 prot=292..343 DNA=67161514..67161359 fr=562 per=39/52 [EST] [P]
CANDIDATE 8
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.029342; GO-score = 0.000601
33200000 bp Chromosome 9 67500000 bp
   
   
1 aa NP_524617 1391 aa

Similarity found to protein:
[43767|NP_524617] | Drosophila melanogaster | cubitus interruptus CG2125-PA | length=1391 aa
GO annotation:

0.000034 negative regulation of transcription from RNA polymerase II promoter (process)
0.000207 transcription factor activity (function)
0.000192 specific RNA polymerase II transcription factor activity (function)
0.000074 nucleus (component)
0.000000 cytoplasm (component)
0.000000 smoothened signaling pathway (process)
0.000601 regulation of progression through mitotic cell cycle (process)
0.000000 blastoderm segmentation (process)
0.000050 zinc ion binding (function)
0.000050 membrane (component)
0.000121 transcriptional activator activity (function)
0.000116 transcriptional repressor activity (function)
0.000000 ovarian follicle cell development (sensu Insecta) (process)
0.000000 genital disc anterior/posterior pattern formation (process)
0.000000 Hedgehog signaling complex (component)
0.000000 regulation of transcription (process)
0.000000 positive regulation of transcription from RNA polymerase II promoter (process)
BLASTX hits:
E-value 3e-15 prot=468..602 DNA=39746592..39746224 fr=1391 per=53/135 [EST] [P]
E-value 2e-14 prot=452..602 DNA=39746463..39746056 fr=1391 per=55/151 [EST] [P]
E-value 4e-14 prot=452..602 DNA=39435185..39434778 fr=1391 per=55/151 [EST] [P]
E-value 1e-13 prot=468..600 DNA=39746172..39745810 fr=1391 per=51/133 [EST] [P]
E-value 1e-13 prot=468..600 DNA=39434894..39434532 fr=1391 per=51/133 [EST] [P]
E-value 5e-12 prot=452..652 DNA=39435521..39434961 fr=1391 per=66/202 [EST] [P]
E-value 2e-11 prot=468..602 DNA=39435650..39435282 fr=1391 per=49/135 [EST] [P]
E-value 7e-11 prot=468..578 DNA=39434810..39434505 fr=1391 per=42/111 [EST] [P]
E-value 7e-11 prot=468..578 DNA=39746088..39745783 fr=1391 per=42/111 [EST] [P]
CANDIDATE 9
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.030551; GO-score = 0.000560
33200000 bp Chromosome 9 67500000 bp
   
    
1 aa NP_004344 417 aa

Similarity found to protein:
[871|NP_004344] | Homo sapiens | serine (or cysteine) proteinase inhibitor, clade H, member 1 precursor | length=417 aa
GO annotation:

0.000046 serine-type endopeptidase inhibitor activity (function)
0.000560 collagen binding (function)
0.000029 endoplasmic reticulum (component)
0.000000 protein folding (process)
0.000000 response to unfolded protein (process)
0.000000 unfolded protein binding (function)
BLASTX hits:
E-value 1e-152 prot=33..278 DNA=34308502..34309239 fr=417 per=219/246 [EST] [P]
E-value 1e-152 prot=313..416 DNA=34309337..34309648 fr=417 per=87/104 [EST] [P]
CANDIDATE 10
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.033255; GO-score = 0.000555
33200000 bp Chromosome 9 67500000 bp
   
 
1 aa NP_004030 339 aa

Similarity found to protein:
[302|NP_004030] | Homo sapiens | annexin A2 | length=339 aa
GO annotation:

0.000555 skeletal development (process)
0.000187 phospholipase inhibitor activity (function)
0.000107 calcium ion binding (function)
0.000000 calcium-dependent phospholipid binding (function)
0.000191 soluble fraction (component)
0.000000 plasma membrane (component)
0.000000 cytoskeletal protein binding (function)
BLASTX hits:
E-value 0.0 prot=1..339 DNA=33614273..33615289 fr=339 per=332/339 [EST] [P]