Analysis of acrocallosal syndrome
Analysis of acrocallosal syndrome G2D Home
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REASONS FOR ASSOCIATION OVERVIEW OF CANDIDATES BEST 10 CANDIDATES BEST 100 CANDIDATES

CHROMOSOMAL REGION
Disease mapped: acrocallosal syndrome
Chromosome: 12
Genomic position start-stop: 0-33200000
length: 33200001
Band: 12p13.3-p11.2
 LINKS

EntrezGene: [46]

MEDLINE:

OMIM: [200990] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY
A set of 45 papers related to this disease was derived from MEDLINE using the query:
acrocallosal [tw] AND syndrome [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).

Syndrome [40]
Abnormalities, Multiple [35]
Mental Retardation [15]
Polydactyly [7]
Syndactyly [5]
Hand Deformities, Congenital [5]
Foot Deformities, Congenital [4]
Anencephaly [4]
Craniofacial Dysostosis [4]
Cleft Palate [3]
We show here only the 10 most frequent. You can also see the complete list of 36 MeSH-C terms.

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.

0.000125 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (function)
0.000044 heart development (process)
0.000040 development of secondary sexual characteristics (process)
0.000040 lactose synthase activity (function)
0.000040 determination of anterior/posterior axis, embryo (process)
0.000040 mesodermal cell fate specification (process)
0.000040 dolichol-linked oligosaccharide biosynthesis (process)
0.000039 UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (function)
0.000039 N-acetyllactosamine synthase activity (function)
0.000036 galactose metabolism (process)
We show here only the top 10. You can also see the complete list of 41 GO terms.

Each name is linked to the corresponding term description by GO. The number indicates the strength of association to acrocallosal syndrome. 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_065685]
R-score = 0.000863; GO-score = 0.000044
0 bp Chromosome 12 33200000 bp
   
  
1 aa NP_033886 420 aa

Similarity found to protein:
[12154|NP_033886] | Mus musculus | bone morphogenetic protein 10 preproprotein | length=420 aa
GO annotation:
0.000000 cytokine activity (function)
0.000000 extracellular region (component)
0.000000 extracellular space (component)
0.000044 heart development (process)
0.000000 growth factor activity (function)
0.000000 growth (process)
BLASTX hits:
E-value 2e-16 prot=317..419 DNA=7734053..7733748 fr=420 per=44/103 [EST]
CANDIDATE 2
DNA (Note) PROTEIN: [NP_004976] [NP_203524]
R-score = 0.001381; GO-score = 0.000044
0 bp Chromosome 12 33200000 bp
   
   
1 aa NP_476699 189 aa

Similarity found to protein:
[41140|NP_476699] | Drosophila melanogaster | Ras85D-P1 CG9375-PA | length=189 aa
GO annotation:
0.000000 G1/S transition of mitotic cell cycle (process)
0.000000 regulation of cell growth (process)
0.000000 cell fate specification (process)
0.000000 GTPase activity (function)
0.000000 GTP binding (function)
0.000000 intracellular protein transport (process)
0.000000 receptor mediated endocytosis (process)
0.000000 anti-apoptosis (process)
0.000000 muscle contraction (process)
0.000026 cytoskeleton organization and biogenesis (process)
0.000000 G-protein coupled receptor protein signaling pathway (process)
0.000017 small GTPase mediated signal transduction (process)
0.000000 synaptic transmission (process)
0.000000 border follicle cell migration (sensu Insecta) (process)
0.000000 dorsal closure (process)
0.000000 primary tracheal branching (sensu Insecta) (process)
0.000030 eye development (sensu Endopterygota) (process)
0.000000 wing disc morphogenesis (process)
0.000000 wing morphogenesis (process)
0.000044 heart development (process)
0.000000 torso signaling pathway (process)
0.000040 determination of anterior/posterior axis, embryo (process)
0.000000 cell growth (process)
0.000000 regulation of exocytosis (process)
0.000000 GDP binding (function)
0.000000 positive regulation of cell growth (process)
0.000000 eggshell pattern formation (sensu Insecta) (process)
0.000000 ovarian follicle cell development (sensu Insecta) (process)
0.000000 regulation of growth (process)
0.000000 perineurial glial growth (process)
0.000000 sevenless signaling pathway (process)
0.000000 regulation of hemocyte differentiation (process)
0.000000 negative regulation of retinal cell programmed cell death (sensu Endopterygota) (process)
BLASTX hits:
E-value 4e-22 prot=37..97 DNA=25271617..25271435 fr=189 per=54/61 [EST]
E-value 2e-13 prot=97..149 DNA=25269977..25269819 fr=189 per=39/53 [EST]
CANDIDATE 3
DNA (Note)
R-score = 0.001784; GO-score = 0.000044
0 bp Chromosome 12 33200000 bp
   
  
1 aa NP_523684 354 aa

Similarity found to protein:
[36104|NP_523684] | Drosophila melanogaster | G protein oalpha 47A CG2204-PG | length=354 aa
GO annotation:
0.000000 GTPase activity (function)
0.000000 signal transducer activity (function)
0.000000 GTP binding (function)
0.000000 heterotrimeric G-protein complex (component)
0.000000 G-protein coupled receptor protein signaling pathway (process)
0.000044 heart development (process)
BLASTX hits:
E-value 5e-11 prot=249..354 DNA=14298415..14298729 fr=354 per=47/106 [EST]
CANDIDATE 4
DNA (Note)
R-score = 0.005408; GO-score = 0.000044
0 bp Chromosome 12 33200000 bp
   
   
1 aa NP_524658 1713 aa

Similarity found to protein:
[43930|NP_524658] | Drosophila melanogaster | pericardin CG5700-PB | length=1713 aa
GO annotation:
0.000000 morphogenesis of an epithelium (process)
0.000000 extracellular matrix (sensu Metazoa) (component)
0.000000 basal lamina (component)
0.000044 heart development (process)
0.000000 cell migration (process)
0.000000 establishment and/or maintenance of apical/basal cell polarity (process)
BLASTX hits:
E-value 7e-11 prot=241..810 DNA=2084884..2086620 fr=1713 per=159/611 [EST]
CANDIDATE 5
DNA (Note) PROTEIN: [NP_110402] [NP_116031]
R-score = 0.006386; GO-score = 0.000044
0 bp Chromosome 12 33200000 bp
   
    
1 aa NP_523502 468 aa

Similarity found to protein:
[34009|NP_523502] | Drosophila melanogaster | wingless CG4889-PB | length=468 aa
GO annotation:
0.000000 cell fate specification (process)
0.000000 larval development (sensu Insecta) (process)
0.000000 signal transducer activity (function)
0.000000 receptor binding (function)
0.000000 frizzled-2 binding (function)
0.000000 Notch binding (function)
0.000000 extracellular region (component)
0.000000 regulation of transcription from RNA polymerase II promoter (process)
0.000000 anti-apoptosis (process)
0.000000 frizzled-2 signaling pathway (process)
0.000000 regulation of progression through mitotic cell cycle (process)
0.000000 blastoderm segmentation (process)
0.000000 segment polarity determination (process)
0.000000 dorsal closure (process)
0.000000 dorsal closure, elongation of leading edge cells (process)
0.000000 ectoderm development (process)
0.000000 ventral cord development (process)
0.000000 sensory organ development (process)
0.000000 tracheal system development (sensu Insecta) (process)
0.000000 tracheal epithelial cell fate determination (sensu Insecta) (process)
0.000000 foregut morphogenesis (process)
0.000000 hindgut morphogenesis (process)
0.000000 imaginal disc growth (process)
0.000000 imaginal disc pattern formation (process)
0.000000 dorsal/ventral pattern formation, imaginal disc (process)
0.000030 eye development (sensu Endopterygota) (process)
0.000000 wing disc morphogenesis (process)
0.000000 wing disc proximal/distal pattern formation (process)
0.000000 wing morphogenesis (process)
0.000000 leg disc proximal/distal pattern formation (process)
0.000022 mesoderm development (process)
0.000044 heart development (process)
0.000000 larval visceral muscle development (process)
0.000000 epidermis development (process)
0.000000 wing margin morphogenesis (process)
0.000040 determination of anterior/posterior axis, embryo (process)
0.000000 morphogen activity (function)
0.000000 cytoplasmic membrane-bound vesicle (component)
0.000000 Wnt receptor signaling pathway (process)
0.000000 ommatidial rotation (process)
0.000000 lamellipodium biogenesis (process)
0.000000 ovarian follicle cell development (sensu Insecta) (process)
0.000000 genital disc development (process)
0.000000 genital disc sexually dimorphic development (process)
0.000000 anterior head segmentation (process)
0.000000 posterior head segmentation (process)
0.000000 trunk segmentation (process)
0.000000 wing cell fate specification (process)
0.000000 regulation of cell proliferation (process)
0.000000 negative regulation of phosphorylation (process)
0.000000 actin cable formation (process)
0.000000 lipid raft (component)
0.000000 positive regulation of retinal cell programmed cell death (sensu Endopterygota) (process)
0.000000 filopodium formation (process)
0.000000 wing disc anterior/posterior pattern formation (process)
0.000000 wing disc dorsal/ventral pattern formation (process)
BLASTX hits:
E-value 1e-22 prot=376..467 DNA=1625348..1625623 fr=468 per=50/92 [EST]
E-value 3e-15 prot=123..222 DNA=1619060..1619350 fr=468 per=44/108 [EST]
CANDIDATE 6
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.006444; GO-score = 0.000044
0 bp Chromosome 12 33200000 bp
   
   
1 aa NP_035159 295 aa

Similarity found to protein:
[16785|NP_035159] | Mus musculus | laminin receptor 1 (ribosomal protein SA) | length=295 aa
GO annotation:

0.000000 structural constituent of ribosome (function)
0.000000 receptor activity (function)
0.000000 laminin receptor activity (function)
0.000000 intracellular (component)
0.000000 nuclear euchromatin (component)
0.000000 ribosome (component)
0.000000 protein biosynthesis (process)
0.000044 heart development (process)
0.000000 small ribosomal subunit (component)
0.000000 ribonucleoprotein complex (component)
BLASTX hits:
E-value 7e-55 prot=38..179 DNA=8786408..8786827 fr=295 per=98/142 [EST] [P]
E-value 7e-55 prot=10..42 DNA=8786325..8786423 fr=295 per=25/33 [EST] [P]
E-value 7e-55 prot=181..206 DNA=8786832..8786909 fr=295 per=16/26 [EST] [P]
CANDIDATE 7
DNA (Note) PROTEIN: [NP_068776]
R-score = 0.006501; GO-score = 0.000044
0 bp Chromosome 12 33200000 bp
   
       
1 aa NP_109603 738 aa

Similarity found to protein:
[14936|NP_109603] | Mus musculus | glycogen synthase 1, muscle | length=738 aa
GO annotation:
0.000012 catalytic activity (function)
0.000000 glycogen (starch) synthase activity (function)
0.000000 glycogen biosynthesis (process)
0.000044 heart development (process)
0.000000 transferase activity (function)
0.000000 transferase activity, transferring glycosyl groups (function)
BLASTX hits:
E-value 6e-18 prot=100..164 DNA=21620262..21620068 fr=738 per=38/65 [EST]
E-value 1e-17 prot=145..225 DNA=21618591..21618349 fr=738 per=46/81 [EST]
E-value 1e-16 prot=478..521 DNA=21590663..21590532 fr=738 per=40/44 [EST]
E-value 1e-16 prot=220..274 DNA=21613232..21613068 fr=738 per=43/55 [EST]
E-value 8e-14 prot=40..101 DNA=21624726..21624541 fr=738 per=36/62 [EST]
E-value 9e-13 prot=549..603 DNA=21584776..21584612 fr=738 per=48/55 [EST]
E-value 3e-12 prot=275..315 DNA=21607548..21607426 fr=738 per=35/41 [EST]
E-value 7e-11 prot=313..355 DNA=21607245..21607117 fr=738 per=33/43 [EST]
CANDIDATE 8
DNA (Note) PROTEIN: [NP_002822] [NP_536858] [NP_536859]
R-score = 0.007767; GO-score = 0.000040
0 bp Chromosome 12 33200000 bp
   
   
1 aa NP_477131 945 aa

Similarity found to protein:
[45278|NP_477131] | Drosophila melanogaster | csw-P2 CG3954-PB | length=945 aa
GO annotation:
0.000000 protein tyrosine phosphatase activity (function)
0.000000 non-membrane spanning protein tyrosine phosphatase activity (function)
0.000000 receptor signaling protein tyrosine phosphatase activity (function)
0.000000 protein binding (function)
0.000000 cytoplasm (component)
0.000000 protein amino acid dephosphorylation (process)
0.000000 epidermal growth factor receptor signaling pathway (process)
0.000000 intracellular signaling cascade (process)
0.000000 terminal region determination (process)
0.000000 ventral midline development (process)
0.000000 tracheal epithelial cell migration (sensu Insecta) (process)
0.000000 primary tracheal branching (sensu Insecta) (process)
0.000000 imaginal disc development (process)
0.000000 R7 cell fate commitment (process)
0.000022 mesoderm development (process)
0.000000 dorsal/ventral axis determination, follicular epithelium (sensu Insecta) (process)
0.000000 torso signaling pathway (process)
0.000000 fibroblast growth factor receptor signaling pathway (process)
0.000040 determination of anterior/posterior axis, embryo (process)
0.000000 sevenless signaling pathway (process)
BLASTX hits:
E-value 2e-12 prot=684..748 DNA=6939350..6939637 fr=945 per=45/96 [EST]
CANDIDATE 9
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.010414; GO-score = 0.000034
0 bp Chromosome 12 33200000 bp
   
   
1 aa NP_032927 361 aa

Similarity found to protein:
[18994|NP_032927] | Mus musculus | POU domain, class 3, transcription factor 4 | length=361 aa
GO annotation:

0.000000 DNA binding (function)
0.000017 transcription factor activity (function)
0.000000 nucleus (component)
0.000034 transcription factor complex (component)
0.000000 transcription (process)
0.000017 regulation of transcription, DNA-dependent (process)
0.000000 regulation of transcription (process)
BLASTX hits:
E-value 2e-33 prot=217..335 DNA=8178213..8177857 fr=361 per=74/119 [EST] [P]
CANDIDATE 10
DNA (Note) PROTEIN: [NP_068772] [NP_973731] [NP_973732]
R-score = 0.012542; GO-score = 0.000034
0 bp Chromosome 12 33200000 bp
   
    
1 aa NP_032047 757 aa

Similarity found to protein:
[14235|NP_032047] | Mus musculus | forkhead box M1 | length=757 aa
GO annotation:
0.000000 liver development (process)
0.000000 DNA binding (function)
0.000017 transcription factor activity (function)
0.000000 nucleus (component)
0.000034 transcription factor complex (component)
0.000000 transcription (process)
0.000017 regulation of transcription, DNA-dependent (process)
0.000000 regulation of cell proliferation (process)
BLASTX hits:
E-value 1e-118 prot=420..757 DNA=2839094..2838078 fr=757 per=250/340 [EST]
E-value 9e-50 prot=20..164 DNA=2853849..2853409 fr=757 per=105/147 [EST]
E-value 9e-29 prot=207..280 DNA=2848212..2847991 fr=757 per=62/74 [EST]
E-value 4e-21 prot=363..426 DNA=2843921..2843724 fr=757 per=60/66 [EST]
E-value 1e-15 prot=279..323 DNA=2845955..2845821 fr=757 per=42/45 [EST]
E-value 6e-15 prot=166..217 DNA=2851676..2851521 fr=757 per=41/52 [EST]